Authors: Fahsold R, Jutta Gärtner, Ludwig Hc, Stettner Gm, Doron Merkler, Kevin Rostasy

Source: Neuropediatrics. 38:29-31

Subject Terms: Clinical Neurology, General Medicine, Pediatrics, Perinatology, and Child Health, Vestibular nerve, Medicine, business.industry, business, Tinnitus, medicine.symptom, Neurofibromatosis type 2, medicine.disease, Radiology, medicine.medical_specialty, Meningioma, Hearing loss, Spinal cord compression, Bilateral vestibular Schwannoma, Schwannoma, Pathology, otorhinolaryngologic diseases, nervous system diseases, neoplasms

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::e1ee5f62d1b228ae0d44385c592c793f
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2007-980204.pdf

Authors: Stettner, GM, Senning, A, Schmid, R, Knirsch, U, Horst, A, Heyland, K, Meyer, S, Magyar, I, Berger, W

Source: Nervenheilkunde; May 2019, Vol. 38 Issue: 5

Authors: Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland. georg.stettner@kispi.uzh.ch., Hasselmann O; Department of Neuropediatrics, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland., Tscherter A; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Galiart E; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, CH-8032, Zurich, Switzerland., Jacquier D; Pediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland., Klein A; Division of Neuropediatrics, Development and Rehabilitation, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.

Source: BMC neurology [BMC Neurol] 2023 Feb 28; Vol. 23 (1), pp. 88. Date of Electronic Publication: 2023 Feb 28.

Publication Type: Observational Study; Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Authors: Stafki SA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Turner J; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Littel HR; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Bruels CC; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Truong D; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Knirsch U; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Stettner GM; Neuromuscular Center Zürich and Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland., Graf U; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland., Berger W; Institute of Medical Molecular Genetics (IMMG), University of Zürich, Zürich, Switzerland; Neuroscience Center Zurich (NCZ), University and ETH Zürich, Zürich, Switzerland; Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland., Kinali M; Department of Brain Sciences, Imperial College London and Portland Hospital HCA International, London, United Kingdom., Jungbluth H; Evelina Children's Hospital and King's College London, University of Manchester, London, United Kingdom., Pacak CA; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota., Hughes J; Amy and Friends Cockayne Syndrome/Trichothiodystrophy Support, Wirral, United Kingdom., Mirchi A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Derksen A; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada., Vincent-Delorme C; Department of Clinical Genetics, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Theil AF; Department of Molecular Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Bernard G; Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, Canada; Department of Human Genetics, McGill University, Montreal, Canada; Division of Medical Genetics, Department Specialized Medicine, McGill University Health Center, Montreal, Canada., Ellis D; South East Genomics Laboratory Hub, Guy's Hospital, London, United Kingdom., Fassihi H; St. John's Institute of Dermatology, Rare Disease Centre, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom., Lehmann AR; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom., Laugel V; Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Laboratoire de Génétique médicale, INSERM U1112, Institut de génétique médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mohammed S; South East Thames Regional Genetics Service and Rare Diseases Centre Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Kang PB; Department of Neurology and Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, Minneapolis, Minnesota; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, Minnesota. Electronic address: pkang@umn.edu.

Source: Pediatric neurology [Pediatr Neurol] 2023 Jan 24; Vol. 141, pp. 79-86. Date of Electronic Publication: 2023 Jan 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Authors: Tscherter A; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Baumann D; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland., Enzmann C; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland., Hasselmann O; Department of Neuropaediatrics, Children's Hospital of Eastern Switzerland, St.Gallen, Switzerland., Jacquier D; Pediatric Neurorology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland., Jung HH; Department of Neurology, University Hospital Zurich, Zurich, Switzerland., Kruijshaar ME; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherland., Kuehni CE; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Children's University Hospital, Inselspital, University of Bern, Bern, Switzerland., Neuwirth C; Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland., Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Klein A; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland; Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital Bern, Inselspital, University of Bern, Bern, Switzerland. Electronic address: andrea.klein@insel.ch.

Corporate Authors: Swiss-Reg-NMD group

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 399-409. Date of Electronic Publication: 2022 Feb 09.

Publication Type: Journal Article; Multicenter Study; Observational Study; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

MeSH Terms: Muscular Atrophy, Spinal* , Spinal Muscular Atrophies of Childhood*/drug therapy, Adolescent ; Adult ; Child ; Child, Preschool ; Humans ; Infant ; Oligonucleotides/therapeutic use ; Switzerland ; Young Adult

Authors: Tremblay-Laganière C; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Nguyen TTM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada., Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's Hospital, University of London, London, UK.; Next Generation Genetic Polyclinic, Mashhad, Iran., Kirmani S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan., Akbar F; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan., Ibrahim S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan., Afroze B; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan., Doosti M; Next Generation Genetic Polyclinic, Mashhad, Iran., Ashrafzadeh F; Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Christoforou M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan., Ladda RL; Department of Pediatrics, Milton S Hershey Medical Centre, Hershey, PA, USA., McLaughlin HM; Invitae Corporation, San Francisco, CA, USA., Truty R; Invitae Corporation, San Francisco, CA, USA., Mahida S; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Baranano K; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Ismail FY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, United Arab Emirates University, Al Ain, UAE., Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nagy A; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, AB, Canada., Maki Y; Department of Chemistry, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Project Research Center for Fundamental Sciences, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan., Sachdev R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK., Macintosh R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK., Palmer EE; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands., Steinfeld R; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.; Institute for Neurogenomics Helmholtz Zentrum München, Neuherberg, Germany., Wortmann SB; University Children's Hospital, Paracelsus Medical School, Salzburg, Austria.; Amalias Children's Hospital, RadboudUMC, Nijmegen, the Netherlands., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK., Brady AF; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK., Stals KL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK., Bernardo D; University of California San Francisco, Clinical Neurology, San Francisco, CA, UK., Nugent K; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA., McLean SD; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan., Campeau PM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca., Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 1873-1881. Date of Electronic Publication: 2021 Jun 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

MeSH Terms: Autism Spectrum Disorder* , Intellectual Disability*, Phosphotransferases (Alcohol Group Acceptor)/*genetics, Humans ; Membrane Proteins ; Pedigree ; Seizures ; Virulence

Authors: Korinthenberg R; Division of Neuropaediatrics and Muscular Disorders, Faculty of Medicine, University Medical Center (UMC), University of Freiburg, 79106 Freiburg, Germany., Trollmann R; Department of Pediatrics, Division of Neuropaediatrics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054 Erlangen, Germany., Plecko B; Department of Pediatrics and Adolescent Medicine, Medical University Graz, 8036 Graz, Austria., Stettner GM; Neuromuscular Center Zurich, Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Blankenburg M; Department of Pediatric Neurology, Klinikum Stuttgart, Olgahospital, 70174 Stuttgart, Germany., Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany., Schoser B; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336 Munich, Germany., Müller-Felber W; Department of Neuropaediatrics, UMC, LMU Munich, 80337 Munich, Germany., Lochbuehler N; Pediatric Radiology, Institute of Radiology, Olgahospital, Klinikum Stuttgart, 70174 Stuttgart, Germany., Hahn G; Department of Radiological Diagnostics, UMC, University of Dresden, 01307 Dresden, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.

Source: Children (Basel, Switzerland) [Children (Basel)] 2021 Aug 09; Vol. 8 (8). Date of Electronic Publication: 2021 Aug 09.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE

Authors: Rüsch CT; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland.; Division of Pediatric Neurology, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland., Knirsch U; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Weber DM; Division of Hand Surgery, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Rohrbach M; Division of Metabolism, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Eichenberger A; Division of Radiology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland., Lütschg J; Division of Pediatric Neurology, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland., Weber K; Division of Hand Surgery, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland., Broser PJ; Division of Pediatric Neurology, Children's Hospital of Eastern Switzerland, 9006 St. Gallen, Switzerland., Stettner GM; Neuromuscular Center Zurich and Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, 8032 Zurich, Switzerland.

Source: Children (Basel, Switzerland) [Children (Basel)] 2021 Jul 23; Vol. 8 (8). Date of Electronic Publication: 2021 Jul 23.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE

Authors: Rüsch CT; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Wortmann SB; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Pediatrics, Radboud Center for Mitochondrial Medicine, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.; Paracelcus Medical University (PMU), University Children's Hospital, Salzburg, Austria., Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, München, Germany.; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis University, Budapest, Hungary., Grehten P; Department of Diagnostic Imaging and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Latal B; Division of Child Department and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland., Stettner GM; Division of Pediatric Neurology and Children's Research Center, University Children's Hospital Zurich, Zürich, Switzerland.

Source: Neuropediatrics [Neuropediatrics] 2021 Apr; Vol. 52 (2), pp. 126-132. Date of Electronic Publication: 2020 Nov 23.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Hippokrates Verlag Country of Publication: Germany NLM ID: 8101187 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1439-1899 (Electronic) Linking ISSN: 0174304X NLM ISO Abbreviation: Neuropediatrics Subsets: MEDLINE

MeSH Terms: Neurodegenerative Diseases/*diet therapy , Neurodegenerative Diseases/*physiopathology , Thiamin Pyrophosphokinase/*deficiency , Thiamin Pyrophosphokinase/*genetics , Thiamine/*pharmacology , Vitamin B Complex/*pharmacology, Child ; Dietary Supplements ; Humans ; Magnesium/administration & dosage ; Rare Diseases ; Thiamine/administration & dosage ; Vitamin B Complex/administration & dosage

Authors: Fernandez-Garcia MA; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, F02 - Becket House, Lambeth Palace Road, London SE1 7EU, United Kingdom., Stettner GM; Division of Paediatric Neurology, University Children´s Hospital Zurich, Zurich, Switzerland., Kinali M; Department of Paediatric Neurology, The Portland Hospital, HCA Healthcare, United Kingdom; Imperial College, London, United Kingdom., Clarke A; Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Fallon P; Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Knirsch U; Division of Paediatric Neurology, University Children´s Hospital Zurich, Zurich, Switzerland., Wraige E; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, F02 - Becket House, Lambeth Palace Road, London SE1 7EU, United Kingdom., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, F02 - Becket House, Lambeth Palace Road, London SE1 7EU, United Kingdom; Muscle Signalling Section, Randall Division for Cell and Molecular Biophysics, King's College, London, United Kingdom; Department of Basic and Clinical Neuroscience, King's College, IoPPN, London, United Kingdom. Electronic address: Heinz.Jungbluth@gstt.nhs.uk.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Feb; Vol. 31 (2), pp. 113-122. Date of Electronic Publication: 2020 Nov 30.

Publication Type: Journal Article; Review

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

MeSH Terms: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/*diagnosis, Adolescent ; Child ; Disease Progression ; Electrodiagnosis ; Female ; Humans ; Male ; Mutation ; Neural Conduction ; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/genetics

Authors: Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Stettner GM; Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany.; Division of Pediatric Neurology, University Children's Hospital Zürich, Zürich, Switzerland., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Writzl K; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Škofljanec A; Department of Paediatric Intensive Care, University Medical Centre Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia., Munell F; Neuromuscular Unit, Pediatric Neurology Department, Vall d'Hebron University Hospital', Vall d'Hebron Research Institute, Barcelona, Spain., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Bosio M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Shinawi M; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany., Strom TM; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Wilichowski E; Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany., Troxell R; Mercy Children's Hospital Springfield, Springfield, Missouri., Collins J; Mercy Children's Hospital Springfield, Springfield, Missouri., Warner BB; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.; Fetal Care Center, Washington University School of Medicine, St. Louis, Missouri., Schmidt RE; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri., Pestronk A; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri., Steinfeld R; Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany.

Source: Human mutation [Hum Mutat] 2017 Nov; Vol. 38 (11), pp. 1477-1484. Date of Electronic Publication: 2017 Aug 17.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Authors: Syrbe S; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany. steffen.syrbe@med.uni-heidelberg.de., Stettner GM; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Bally J; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Borggraefe I; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Bien CI; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Ferfoglia RI; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Huppke P; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Kern J; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Polster T; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Probst-Müller E; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Schmid S; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Steinfeld R; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Strozzi S; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Weichselbaum A; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Weitz M; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Ziegler A; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Wandinger KP; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Leypoldt F; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany., Bien CG; From the Division of Pediatric Epileptology (S. Syrbe), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Germany; Division of Pediatric Neurology (G.M.S., R.S.), University Children's Hospital Zurich; Department of Neurology (J.B., R.I.F.), University & University Hospitals of Geneva, Switzerland; Division of Pediatric Neurology (I.B.), Developmental Neurology and Social Pediatrics, Department of Pediatrics and Epilepsy Center for Children, Adolescents and Adults, University Hospital LMU Munich; Laboratory Krone (C.I.B., C.G.B.), Bad Salzuflen; Department of Pediatrics and Pediatric Neurology (P.H.), Faculty of Medicine, Georg August University, Goettingen; Department of Child Neurology (J.K., A.W.), University Children's Hospital, Tuebingen; Epilepsy Center Bethel (T.P., C.G.B.), Krankenhaus Mara, Bielefeld, Germany; Clinic of Immunology (E.P.-M.), University Hospital Zurich; Kantonsspital Graubünden (S. Schmid, S. Strozzi), Chur; Pediatric Nephrology Unit (M.W.), University Children's Hospital Zurich, Switzerland; Division of Child Neurology and Metabolic Medicine (A.Z.), Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Institute of Clinical Chemistry (K.-P.W., F.L.), Neuroimmunology Section, University Hospital Schleswig-Holstein Kiel/Lübeck; Department of Neurology (K.-P.W.), University of Lübeck; and Department of Neurology (F.L.), Christian-Albrechts-University Kiel, Germany.

Source: Neurology [Neurology] 2020 Jun 02; Vol. 94 (22), pp. e2290-e2301. Date of Electronic Publication: 2020 May 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

MeSH Terms: Autoantibodies/*blood , Autoimmunity/*physiology , Brain Diseases/*blood , Hypertension/*blood , Membrane Proteins/*blood , Nerve Tissue Proteins/*blood , Syringomyelia/*blood, Adolescent ; Autoantibodies/immunology ; Brain Diseases/immunology ; Brain Diseases/therapy ; Child ; Child, Preschool ; Female ; Humans ; Hypertension/immunology ; Hypertension/therapy ; Immunotherapy/methods ; Infant ; Male ; Membrane Proteins/immunology ; Nerve Tissue Proteins/immunology ; Retrospective Studies ; Syringomyelia/immunology ; Syringomyelia/therapy

Authors: Stendel C; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Neuhofer C; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Floride E; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Yuqing S; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Ganetzky RD; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Park J; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Freisinger P; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Kornblum C; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Kleinle S; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Schöls L; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Distelmaier F; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Stettner GM; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Büchner B; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Falk MJ; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Mayr JA; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Synofzik M; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Abicht A; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Haack TB; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Prokisch H; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Wortmann SB; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Murayama K; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Fang F; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany., Klopstock T; Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

Corporate Authors: ATP6 Study Group

Source: Neurology. Genetics [Neurol Genet] 2020 Jan 13; Vol. 6 (1), pp. e393. Date of Electronic Publication: 2020 Jan 13 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Authors: Volgin DV; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Lu JW; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Stettner GM; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Mann GL; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Ross RJ; Behavioral Health Service, Philadelphia Veterans Affairs Medical Center, Philadelphia, Pennsylvania, United States of America ; Department of Psychiatry, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America ; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Morrison AR; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Kubin L; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.

Source: PloS one [PLoS One] 2014 Jan 21; Vol. 9 (1), pp. e86545. Date of Electronic Publication: 2014 Jan 21 (Print Publication: 2014).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Authors: Stettner GM; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America., Lei Y, Benincasa Herr K, Kubin L

Source: PloS one [PLoS One] 2013 Apr 22; Vol. 8 (4), pp. e62410. Date of Electronic Publication: 2013 Apr 22 (Print Publication: 2013).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Authors: Brandes IF; Department of Anaesthesiology, Emergency and Intensive Care Medicine, University Medicine Gottingen, Georg August University, Gottingen, Germany., Stettner GM, Mörschel M, Kubin L, Dutschmann M

Source: Experimental physiology [Exp Physiol] 2011 May; Vol. 96 (5), pp. 548-55. Date of Electronic Publication: 2011 Feb 18.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 9002940 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-445X (Electronic) Linking ISSN: 09580670 NLM ISO Abbreviation: Exp Physiol Subsets: MEDLINE

Authors: Oláhová M; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Hardy SA; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Hall J; 2 Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne, NE1 3BZ, UK., Yarham JW; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Haack TB; 3 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstrasse 1, D-85764 Neuherberg, Germany 4 Institut für Humangenetik, Technische Universität München, Arcisstrasse 21, 80333 Munich, Germany., Wilson WC; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Alston CL; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., He L; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Aznauryan E; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Brown RM; 5 Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK., Brown GK; 5 Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK., Morris AA; 6 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK., Mundy H; 7 Centre for Inherited Metabolic Disease, Evelina Children's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 7EH, UK., Broomfield A; 6 Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, UK., Barbosa IA; 8 Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, SE1 9RY, UK., Simpson MA; 8 Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, SE1 9RY, UK., Deshpande C; 9 Department of Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK., Moeslinger D; 10 Department of Paediatrics, University Children's Hospital, A-1090 Vienna, Austria., Koch J; 11 Department of Paediatrics, Paracelsus Medical University Salzburg, 5020 Salzburg, Austria., Stettner GM; 12 Department of Paediatric Neurology, Georg August University, 37075 Göttingen, Germany., Bonnen PE; 13 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Prokisch H; 3 Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstrasse 1, D-85764 Neuherberg, Germany 4 Institut für Humangenetik, Technische Universität München, Arcisstrasse 21, 80333 Munich, Germany., Lightowlers RN; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., McFarland R; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Chrzanowska-Lightowlers ZM; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Taylor RW; 1 Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK robert.taylor@ncl.ac.uk.

Source: Brain : a journal of neurology [Brain] 2015 Dec; Vol. 138 (Pt 12), pp. 3503-19. Date of Electronic Publication: 2015 Oct 27.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

MeSH Terms: Cytochrome-c Oxidase Deficiency/*genetics , Mitochondrial Diseases/*genetics , Neoplasm Proteins/*genetics , Proteins/*genetics, Canada ; Cells, Cultured ; Child, Preschool ; Cytochrome-c Oxidase Deficiency/enzymology ; Electron Transport Complex IV/metabolism ; Female ; Fibroblasts/metabolism ; Humans ; Infant ; Infant, Newborn ; Leucine-Rich Repeat Proteins ; Male ; Mitochondrial Diseases/enzymology ; Mitochondrial Diseases/metabolism ; Mitochondrial Proteins/metabolism ; Muscle, Skeletal/metabolism ; Mutation ; Pedigree ; Proteins/metabolism ; RNA, Messenger/metabolism ; RNA, Mitochondrial

Authors: Rukhadze I; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA , USA., Kalter J; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA , USA., Stettner GM; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA , USA., Kubin L; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania , Philadelphia, PA , USA.

Source: Frontiers in neurology [Front Neurol] 2014 Apr 28; Vol. 5, pp. 61. Date of Electronic Publication: 2014 Apr 28 (Print Publication: 2014).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Authors: Kirschner J; Department of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany. Electronic address: janbernd.kirschner@uniklinik-freiburg.de., Schorling D; Department of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany., Hauschke D; Institute of Medical Biometry and Medical Informatics, University of Freiburg, Germany., Rensing-Zimmermann C; Department of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany., Wein U; Department of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany., Grieben U; Department of Neuropaediatrics, Charité University Medical School, Berlin, Germany., Schottmann G; Department of Neuropaediatrics, Charité University Medical School, Berlin, Germany., Schara U; Department of Paediatric Neurology, University Hospital Essen, Germany., Konrad K; Department of Paediatric Endocinology, University Hospital Essen, Germany., Müller-Felber W; Department of Paediatric Neurology and Developmental Medicine, Dr. Von Hauner Children's Hospital, München, Germany., Thiele S; Department of Paediatric Neurology and Developmental Medicine, Dr. Von Hauner Children's Hospital, München, Germany., Wilichowski E; Department of Paediatrics and Paediatric Neurology, Georg August University, Göttingen, Germany., Hobbiebrunken E; Department of Paediatrics and Paediatric Neurology, Georg August University, Göttingen, Germany., Stettner GM; Department of Paediatrics and Paediatric Neurology, Georg August University, Göttingen, Germany., Korinthenberg R; Department of Neuropaediatrics and Muscle Disorders, University Medical Center, Freiburg, Germany.

Source: Neuromuscular disorders : NMD [Neuromuscul Disord] 2014 Feb; Vol. 24 (2), pp. 134-42. Date of Electronic Publication: 2013 Nov 13.

Publication Type: Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

MeSH Terms: Hormone Replacement Therapy*/adverse effects, Human Growth Hormone/*therapeutic use , Spinal Muscular Atrophies of Childhood/*drug therapy, Adolescent ; Adult ; Child ; Cross-Over Studies ; Disability Evaluation ; Double-Blind Method ; Female ; Human Growth Hormone/adverse effects ; Humans ; Lower Extremity/physiopathology ; Male ; Motor Activity/drug effects ; Muscle Strength/drug effects ; Pilot Projects ; Respiratory Function Tests ; Spinal Muscular Atrophies of Childhood/physiopathology ; Treatment Outcome ; Upper Extremity/physiopathology ; Young Adult

Authors: Volgin DV; Department of Animal Biology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104-6046, USA. Electronic address: dvolgin@vet.upenn.edu., Stettner GM, Kubin L

Source: Respiratory physiology & neurobiology [Respir Physiol Neurobiol] 2013 Sep 15; Vol. 188 (3), pp. 301-7. Date of Electronic Publication: 2013 May 09.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 101140022 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1519 (Electronic) Linking ISSN: 15699048 NLM ISO Abbreviation: Respir Physiol Neurobiol Subsets: MEDLINE

MeSH Terms: Circadian Rhythm/*physiology , Hypoglossal Nerve/*physiology , Motor Neurons/*physiology , Receptors, Neurotransmitter/*physiology , Wakefulness/*physiology, Animals ; Hypoglossal Nerve/cytology ; Male ; Medulla Oblongata/metabolism ; Norepinephrine/metabolism ; Orexin Receptors/drug effects ; Orexin Receptors/physiology ; RNA, Messenger/biosynthesis ; RNA, Messenger/genetics ; Rats ; Rats, Sprague-Dawley ; Receptor, Serotonin, 5-HT2A/physiology ; Receptors, Adrenergic, alpha-1/drug effects ; Receptors, Adrenergic, alpha-1/physiology ; Rest/physiology ; Sleep/physiology ; Sleep Apnea Syndromes/physiopathology