Authors: Martikainen, MH, Ng, YS, Gorman, GS, Alston, CL
Source: Jama Neurology. 73(6):668-674
Subject Terms: ta3124
Access URL:
https://explore.openaire.eu/search/publication?articleId=CSC_________::eb2ea93794f5cba9df42d779659c778b
http://juuli.fi/Record/0279216316
Authors: Martikainen, MH, Grady, JP, Ng, YS, Alston, CL, Gorman, GS
Source: European Journal of Human Genetics. 25(10):1162-1164
Subject Terms: ta3124
Access URL:
https://explore.openaire.eu/search/publication?articleId=CSC_________::60f143db9acf0100a3b8f4e3bc8d99e5
http://juuli.fi/Record/0286050817
Authors: Tuppen, HA, Hogan, VE, He, L, Blakely, EL, Worgan, L, Al-Dosary, M, Saretzki, G, Alston, CL, Morris, AA, Clarke, M, Jones, S, Devlin, AM, Mansour, S, Chrzanowska-Lightowlers, ZM, Thorburn, DR, McFarland, R, Taylor, RW
Source: Brain
Subject Terms: Original Articles, mitochondrial disease, Leigh syndrome, complex I deficiency, NDUFS2, recurrent mutation, Clinical Neurology, Mitochondrial disease, medicine.disease, medicine, Leigh disease, Single-nucleotide polymorphism, Splice site mutation, Compound heterozygosity, Mutation, medicine.disease_cause, NDUFS8, Haplotype, Genetics, Biology, congenital, hereditary, and neonatal diseases and abnormalities
File Description: application/pdf
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http://europepmc.org/articles/PMC2947428
Authors: Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF, Pfeffer, Gerald, Blakely, Emma L, Alston, Charlotte L, Hassani, Adam, Boggild, Mike, Horvath, Rita, Samuels, David C, Taylor, Robert W, Chinnery, Patrick F
Source: Journal of Neurology, Neurosurgery & Psychiatry; Sep2012, Vol. 83 Issue 9, p883-886, 4p
Authors: Low JM, Griffith GR, Alston CL
Source: Australian Journal of Rural Health; Aug1996, Vol. 4 Issue 3, p179-189, 11p
Authors: Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW
Source: Neurology; 6/7/2011, Vol. 76 Issue 23, p2032-2034, 3p
Authors: Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW, Whittaker, R G, Blackwood, J K, Alston, C L, Blakely, E L, Elson, J L, McFarland, R, Chinnery, P F, Turnbull, D M, Taylor, R W
Source: Neurology; 2/10/2009, Vol. 72 Issue 6, p568-569, 2p
Authors: Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Sergeant K; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Alston CL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Woodward C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Smith C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Patel Y; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Hodsdon P; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Baines JP; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Blakely EL; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Polke J; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK., Taylor RW; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Carl.Fratter@ouh.nhs.uk.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Feb; Vol. 31 (2), pp. 148-163. Date of Electronic Publication: 2022 Dec 13.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
MeSH Terms: Mitochondrial Diseases*/genetics , Genome, Mitochondrial*, Pregnancy ; Female ; Humans ; Genome-Wide Association Study ; DNA, Mitochondrial/genetics ; Genetic Testing/methods ; Mitochondria/genetics
Authors: Deen D; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hudson G; Wellcome Centre for Mitochondrial Research, Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. angela.pyle@newcastle.ac.uk.
Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2023; Vol. 2615, pp. 397-425.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE
MeSH Terms: Exome* , Mitochondrial Diseases*/genetics, Humans ; Genomics ; Exome Sequencing ; Cell Nucleus
Authors: Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Stenton SL; Institute of Human Genetics, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Hudson G; Wellcome Centre for Mitochondrial Research, Bioscience Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Prokisch H; Institute of Human Genetics, Technische Universität München, München, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Source: The Journal of pathology [J Pathol] 2021 Jul; Vol. 254 (4), pp. 430-442. Date of Electronic Publication: 2021 Mar 26.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE
Accede al texto completo Authors: Nolden KA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Egner JM; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Collier JJ; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Canada., Russell OM; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Harwig MC; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Widlansky ME; Department of Medicine, Division of Cardiovascular Medicine and Department of Pharmacology, Medical College of Wisconsin, Milwaukee, WI, USA., Sasorith S; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire and PhyMedExp, INSERM U1046, CNRS UMR 9214, Montpellier, France., Barbosa IA; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK., Douglas AG; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, Plymouth, UK., Walker M; Department of Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Donnelly DE; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast, UK., Morris AA; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Tan HJ; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Kurian MA; Developmental Neurosciences Department, Zayed Centre for Research into Rare Diseases in Children, University College London Great Ormond Street Institute of Child Health, Faculty of Population Health Sciences, London, UK., Gorman K; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland., Mordekar S; Department of Paediatric Neurology, Sheffield Children's Hospital, Sheffield, UK., Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London, UK., Samanta R; Department of Paediatric Neurology, University Hospitals Leicester NHS Trust, Leicester, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Hill RB; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK.; The National Health Service (NHS) Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne, UK monika.olahova@ncl.ac.uk.
Source: Life science alliance [Life Sci Alliance] 2022 Aug 01; Vol. 5 (12). Date of Electronic Publication: 2022 Aug 01.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE
MeSH Terms: Mitochondrial Dynamics*/genetics , Mitochondrial Proteins*/genetics , Mitochondrial Proteins*/metabolism, Dynamins/genetics ; GTP Phosphohydrolases/genetics ; GTP Phosphohydrolases/metabolism ; Humans ; Microtubule-Associated Proteins/genetics ; Microtubule-Associated Proteins/metabolism ; Mitochondria/metabolism
Authors: Yépez VA; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany.; Quantitative Biosciences Munich, Department of Biochemistry, Ludwig-Maximilians-Universität, Munich, Germany., Gusic M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Munich, Germany., Kopajtich R; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Mertes C; Department of Informatics, Technical University of Munich, Garching, Germany., Smith NH; Department of Informatics, Technical University of Munich, Garching, Germany., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Ban R; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Center for Pediatric Research Leipzig (CPL), Center for Rare Diseases, University Hospitals, University of Leipzig, Leipzig, Germany., Berutti R; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Blessing H; Department for Inborn Metabolic Diseases, Children's and Adolescents' Hospital, University of Erlangen-Nürnberg, Erlangen, Germany., Ciara E; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich-Heine-University, Düsseldorf, Germany., Freisinger P; Department of Pediatrics, Klinikum Reutlingen, Reutlingen, Germany., Häberle J; University Children's Hospital Zurich and Children's Research Centre, Zürich, Switzerland., Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Itkis YS; Research Centre for Medical Genetics, Moscow, Russia., Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan.; Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Krylova TD; Research Centre for Medical Genetics, Moscow, Russia., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy., Lenz D; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Makowski C; Department of Pediatrics, Technical University of Munich, Munich, Germany., Mosegaard S; Research Unit for Molecular Medicine, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Müller MF; Department of Informatics, Technical University of Munich, Garching, Germany., Muñoz-Pujol G; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Nadel A; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Ohtake A; Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan.; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan., Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, Japan., Procopio E; Inborn Metabolic and Muscular Disorders Unit, Anna Meyer Children Hospital, Florence, Italy., Schwarzmayr T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Smet J; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Stenton SL; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Strom TM; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Terrile C; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Tort F; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Van Coster R; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Vanlander A; Department of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium., Wagner M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Xu M; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Mayr JA; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria., Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Ribes A; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Rötig A; Université de Paris, Institut Imagine, INSERM UMR 1163, Paris, France., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK., Wortmann SB; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc Nijmegen, Nijmegen, The Netherlands., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan., Meitinger T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Gagneur J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.; Department of Informatics, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Computational Biology, Helmholtz Zentrum München, Neuherberg, Germany. gagneur@in.tum.de., Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. prokisch@helmholtz-muenchen.de.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany. prokisch@helmholtz-muenchen.de.; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. prokisch@helmholtz-muenchen.de.
Source: Genome medicine [Genome Med] 2022 Apr 05; Vol. 14 (1), pp. 38. Date of Electronic Publication: 2022 Apr 05.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
MeSH Terms: RNA* , Transcriptome*, Alleles ; Humans ; Sequence Analysis, RNA/methods ; Exome Sequencing
Authors: Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.
Publication Type: Published Erratum
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE
Authors: Alahmad A; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Centre, Al-Sabah Medical Area, Kuwait., Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Heidler J; SFB815 Core Unit, Functional Proteomics, Medical School, Goethe-Universität, Frankfurt am Main, Germany., Thompson K; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Faculty of Medical Sciences, Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK., Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Meisterknecht J; SFB815 Core Unit, Functional Proteomics, Medical School, Goethe-Universität, Frankfurt am Main, Germany., Spagnolo M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., He L; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Alameer S; Pediatric Department, Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia.; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.; King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Hakami F; Section of Molecular Medicine, King Abdulaziz Medical City-WR, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia., Almehdar A; Department of Medical Imaging, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City-WR, National Guard Health Affairs, Jeddah, Saudi Arabia., Ardissone A; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Wittig I; SFB815 Core Unit, Functional Proteomics, Medical School, Goethe-Universität, Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner site RheinMain, Frankfurt, Germany., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Source: EMBO molecular medicine [EMBO Mol Med] 2020 Nov 06; Vol. 12 (11), pp. e12619. Date of Electronic Publication: 2020 Sep 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE
Authors: Lim AZ; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Ng YS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Blain A; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Jiminez-Moreno C; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Nesbitt V; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Simmons L; Birmingham Children's Hospital, Birmingham, UK., Santra S; Birmingham Children's Hospital, Birmingham, UK., Wassmer E; Birmingham Children's Hospital, Birmingham, UK., Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Turnbull DM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; National Health Service Highly Specialised Services for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, UK.
Source: Annals of neurology [Ann Neurol] 2022 Jan; Vol. 91 (1), pp. 117-130. Date of Electronic Publication: 2021 Nov 12.
Publication Type: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
MeSH Terms: Leigh Disease*, Child ; Child, Preschool ; Cohort Studies ; Cost of Illness ; Disease Progression ; Female ; Humans ; Infant ; Longitudinal Studies ; Male
Authors: Lujan SA; Genome Integrity and Structural Biology Laboratory, DNA Replication Fidelity Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Longley MJ; Genome Integrity and Structural Biology Laboratory, Mitochondrial DNA Replication Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Humble MH; Genome Integrity and Structural Biology Laboratory, Mitochondrial DNA Replication Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Lavender CA; Integrative Bioinformatics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Burkholder A; Integrative Bioinformatics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Blakely EL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Gorman GS; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Turnbull DM; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Kunkel TA; Genome Integrity and Structural Biology Laboratory, DNA Replication Fidelity Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA., Copeland WC; Genome Integrity and Structural Biology Laboratory, Mitochondrial DNA Replication Group, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, 27709, USA. copelan1@niehs.nih.gov.
Source: Genome biology [Genome Biol] 2020 Sep 17; Vol. 21 (1), pp. 248. Date of Electronic Publication: 2020 Sep 17.
Publication Type: Evaluation Study; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 100960660 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-760X (Electronic) Linking ISSN: 14747596 NLM ISO Abbreviation: Genome Biol Subsets: MEDLINE
Authors: Mingirulli N; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany., Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hathazi D; Biomedical Research Department, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Kohlschmidt N; Institute of Clinical Genetics and Tumor Genetics, Bonn, Germany., O'Grady G; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Waddell L; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Evesson F; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia., Cooper SBT; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia., Turner C; Discipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.; Cardiology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Duff J; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Topf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Yubero D; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Jou C; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Nascimento A; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Ortez C; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., García-Cazorla A; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Gross C; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., O'Callaghan M; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Santra S; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Preece MA; Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Champion M; Department of Inherited Disease, St Thomas Hospital, London, UK., Korenev S; Department of Inherited Disease, St Thomas Hospital, London, UK., Chronopoulou E; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK., Anirban M; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK., Pierre G; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK., McArthur D; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts., Thompson K; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Navas P; Centro Andaluz de Biología del Desarrollo, Uníversidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Madrid, Spain., Ribes A; Secció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain., Tort F; Secció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Institut d'Investìgacío Biomedíca de Bellvitge (IDIBELL), and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., Montero R; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Sarquella G; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada., Jiménez-Mallebrera C; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Taylor RW; Kid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Artuch R; Department of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany., Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany., Roos A; Biomedical Research Department, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Pediatric Neurology, University Children's Hospital, University of Duisburg-Essen, Faculty of Medicine, Essen, Germany., Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Mar; Vol. 43 (2), pp. 297-308. Date of Electronic Publication: 2019 Aug 13.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Authors: Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Collier JJ; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Glasgow RIC; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Robertson FM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Pyle A; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Blakely EL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Jan; Vol. 43 (1), pp. 36-50. Date of Electronic Publication: 2019 May 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Authors: Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.
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: Cardiomyopathies*/genetics , Death, Sudden, Cardiac*/etiology, Adolescent ; Alleles ; Child, Preschool ; Humans ; Inorganic Pyrophosphatase/genetics ; Inorganic Pyrophosphatase/metabolism ; Mitochondrial Proteins/genetics ; Mutation
Authors: Saoura M; York College, The City University of New York, Jamaica, New York., Powell CA; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Kopajtich R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Alahmad A; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Al-Balool HH; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Albash B; Kuwait Medical Genetics Center, Kuwait City, Kuwait., Alfadhel M; Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia., Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Bertini E; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Bratkovic D; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Carrozzo R; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Donati MA; Metabolic Unit, A. Meyer Children's Hospital, Florence, Italy., Di Nottia M; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy., Goldstein A; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, USA., Haan E; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Horvath R; Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Invernizzi F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lucas B; York College, The City University of New York, Jamaica, New York., Pinnock KG; York College, The City University of New York, Jamaica, New York., Pujantell M; York College, The City University of New York, Jamaica, New York., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK., Rebelo-Guiomar P; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Graduate Program in Areas of Basic and Applied Biology, University of Porto, Porto, Portugal., Santra S; Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, UK., Verrigni D; Department of Neurosciences, Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children's Research Hospital, IRCCS, Rome, Italy., McFarland R; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Prokisch H; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Genetics of Mitochondrial Disorders, Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK., Levinger L; York College, The City University of New York, Jamaica, New York., Minczuk M; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
Source: Human mutation [Hum Mutat] 2019 Oct; Vol. 40 (10), pp. 1731-1748. Date of Electronic Publication: 2019 Jun 18.
Publication Type: Journal Article; 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