Authors: Vosa, U., Claringbould, A., Westra, H.J., Bonder, M.J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., Brugge, H., Oelen, R., Vries, D.H. de, Wijst, M.G.P. van der, Kasela, S., Pervjakova, N., Alves, I., Fave, M.J., Agbessi, M., Christiansen, M.W., Jansen, R., Seppala, I., Tong, L., Teumer, A., Schramm, K., Hemani, G., Verlouw, J., Yaghootkar, H., Flitman, R.S., Brown, A., Kukushkina, V., Kalnapenkis, A., Rueger, S., Porcu, E., Kronberg, J., Kettunen, J., Lee, B., Zhang, F.T., Qi, T., Hernandez, J.A., Arindrarto, W., Beutner, F., Dmitrieva, J., Elansary, M., Fairfax, B.P., Georges, M., Heijmans, B.T., Hewitt, A.W., Kahonen, M., Kim, Y., Knight, J.C., Kovacs, P., Krohn, K., Li, S., Loeffler, M., Marigorta, U.M., Mei, H.L., Momozawa, Y., Muller-Nurasyid, M., Nauck, M., Nivard, M.G., Penninx, B.W.J.H., Pritchard, J.K., Raitakari, O.T., Rotzschke, O., Slagboom, E.P., Stehouwer, C.D.A., Stumvoll, M., Sullivan, P., Hoen, P.A.C. 't, Thiery, J., Tonjes, A., Dongen, J. van, Iterson, M. van, Veldink, J.H., Volker, U., Warmerdam, R., Wijmenga, C., Swertz, M., Andiappan, A., Montgomery, G.W., Ripatti, S., Perola, M., Kutalik, Z., Dermitzakis, E., Bergmann, S., Frayling, T., Meurs, J. van, Prokisch, H., Ahsan, H., Pierce, B.L., Lehtimaki, T., Boomsma, D.I., Psaty, B.M., Gharib, S.A., Awadalla, P., Milani, L., Ouwehand, W.H., Downes, K., Stegle, O., Battle, A., Visscher, P.M., Yang, J., Scholz, M., Powell, J., Gibson, G., Esko, T., Franke, L., BIOS Consortium, i2QTL Consortium

Contributors: Interne Geneeskunde, MUMC+: HV - Pieken Maastricht Studie, MUMC+: BC - Interne Geneeskunde, MUMC+: BC - Med.Staf-Artsass. Int. Gen., RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, Biological Psychology, APH - Mental Health, APH - Personalized Medicine, APH - Methodology, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)

Source: Large-scale cis-and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nature Genetics, 53(9), 1300-1310., United KingdomNature Publishing Group. (2021).
Nature Genetics, 53(9), 1300-1310. Nature Publishing Group
Nature Genetics, 53(9), 1300-+. NATURE PORTFOLIO
Nature genetics, 53(9), 1300-1310. Nature Publishing Group
Nature Genetics, 53, 1300-1310. Nature Publishing Group

Subject Terms: Genetics, GENOME-WIDE ASSOCIATION, SERINE BIOSYNTHESIS, HUMAN TRANSCRIPTOME, ARCHITECTURE, DISEASE, DEFICIENCY, RELEVANCE, DISORDER, LINKS, RISK, Blood Proteins/genetics, Gene Expression Regulation/genetics, Genome-Wide Association Study, Humans, Multifactorial Inheritance/genetics, Polymorphism, Single Nucleotide/genetics, Quantitative Trait Loci/genetics, Transcriptome/genetics, Genetics & genetic processes [Life sciences], Génétique & processus génétiques [Sciences du vivant]

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2b95e9d7b4e1b22eefe3d319e4309b3
https://www.nature.com/articles/s41588-021-00913-z.pdf

Authors: Schiff, M., Haack, T., Vilboux, T., Pode-Shakked, B., Thöny, B., Shen, N., Guarani, V., Meissner, T., Mayatepek, E., Trefz, F. K., Martinez, A., Benoist, J., Heimer, G., Malicdan, M. C., Ben-Zeev, B., Blau, N., Hoffmann, G. F., Prokisch, H., Opladen, T., Anikster, Y.

Source: Journal of Intellectual Disability Research. Sep 01, 2017 61(9):829-829

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00002547-201709000-00010.an

Authors: Porcu, E. (Eleonora), Rueger, S. (Sina), Lepik, K. (Kaido), Agbessi, M. (Mawusse), Ahsan, H. (Habibul), Alves, I. (Isabel), Andiappan, A. (Anand), Arindrarto, W. (Wibowo), Awadalla, P. (Philip), Battle, A. (Alexis), Beutner, F. (Frank), Bonder, M. J. (Marc Jan), Boomsma, D. (Dorret), Christiansen, M. (Mark), Claringbould, A. (Annique), Deelen, P. (Patrick), Esko, T. (Tonu), Fave, M.-J. (Marie-Julie), Franke, L. (Lude), Frayling, T. (Timothy), Gharib, S. A. (Sina A.), Gibson, G. (Gregory), Heijmans, B. T. (Bastiaan T.), Hemani, G. (Gibran), Jansen, R. (Rick), Kahonen, M. (Mika), Kalnapenkis, A. (Anette), Kasela, S. (Silva), Kettunen, J. (Johannes), Kim, Y. (Yungil), Kirsten, H. (Holger), Kovacs, P. (Peter), Krohn, K. (Knut), Kronberg-Guzman, J. (Jaanika), Kukushkina, V. (Viktorija), Lee, B. (Bernett), Lehtimaki, T. (Terho), Loeffler, M. (Markus), Marigorta, U. M. (Urko M.), Mei, H. (Hailang), Milani, L. (Lili), Montgomery, G. W. (Grant W.), Mueler-Nurasyid, M. (Martina), Nauck, M. (Matthias), Nivard, M. (Michel), Penninx, B. (Brenda), Perola, M. (Markus), Pervjakova, N. (Natalia), Pierce, B. L. (Brandon L.), Powell, J. (Joseph), Prokisch, H. (Holger), Psaty, B. M. (Bruce M.), Raitakari, O. T. (Olli T.), Ripatti, S. (Samuli), Rotzschke, O. (Olaf), Saha, A. (Ashis), Scholz, M. (Markus), Schramm, K. (Katharina), Seppala, I. (Ilkka), Slagboom, E. P. (Eline P.), Stehouwer, C. D. (Coen D. A.), Stumvoll, M. (Michael), Sullivan, P. (Patrick), Teumer, A. (Alexander), Thiery, J. (Joachim), Tong, L. (Lin), Tonjes, A. (Anke), van Dongen, J. (Jenny), van Iterson, M. (Maarten), van Meurs, J. (Joyce), Veldink, J. H. (Jan H.), Verlouw, J. (Joost), Visscher, P. M. (Peter M.), Volker, U. (Uwe), Vosa, U. (Urmo), Westra, H.-J. (Harm-Jan), Wijmenga, C. (Cisca), Yaghootkar, H. (Hanieh), Yang, J. (Jian), Zeng, B. (Biao), Zhang, F. (Futao), Beekman, M. (Marian), Boomsma, D. I. (Dorret I.), Bot, J. (Jan), Deelen, J. (Joris), Hofman, B. A. (Bert A.), Hottenga, J. J. (Jouke J.), Isaacs, A. (Aaron), Jhamai, P. M. (P. Mila), Kielbasa, S. M. (Szymon M.), Lakenberg, N. (Nico), Luijk, R. (Rene), Mei, H. (Hailiang), Moed, M. (Matthijs), Nooren, I. (Irene), Pool, R. (Rene), Schalkwijk, C. G. (Casper G.), Slagboom, P. E. (P. Eline), Suchiman, H. E. (H. Eka D.), Swertz, M. A. (Morris A.), Tigchelaar, E. F. (Ettje F.), Uitterlinden, A. G. (Andre G.), van den Berg, L. H. (Leonard H.), van der Breggen, R. (Ruud), van der Kallen, C. J. (Carla J. H.), van Dijk, F. (Freerk), van Duijn, C. M. (Cornelia M.), van Galen, M. (Michiel), van Greevenbroek, M. M. (Marleen M. J.), van Heemst, D. (Diana), van Rooij, J. (Jeroen), Van't Hof, P. (Peter), van Zwet, E. W. (Erik. W.), Vermaat, M. (Martijn), Verbiest, M. (Michael), Verkerk, M. (Marijn), Zhernakova, D. V. (Dasha V.), Zhernakova, S. (Sasha), Santoni, F. A. (Federico A.), Reymond, A. (Alexandre), Kutalik, Z. (Zoltan)

Contributors: eQTLGen Consortium, BIOS Consortium, Agbessi, M., Ahsan, H., Alves, I., Andiappan, A., Arindrarto, W., Awadalla, P., Battle, A., Beutner, F., Jan Bonder, M., Boomsma, D., Christiansen, M., Claringbould, A., Deelen, P., Esko, T., Favé, M.J., Franke, L., Frayling, T., Gharib, S.A., Gibson, G., Heijmans, B.T., Hemani, G., Jansen, R., Kähönen, M., Kalnapenkis, A., Kasela, S., Kettunen, J., Kim, Y., Kirsten, H., Kovacs, P., Krohn, K., Kronberg-Guzman, J., Kukushkina, V., Lee, B., Lehtimäki, T., Loeffler, M., Marigorta, U.M., Mei, H., Milani, L., Montgomery, G.W., Müller-Nurasyid, M., Nauck, M., Nivard, M., Penninx, B., Perola, M., Pervjakova, N., Pierce, B.L., Powell, J., Prokisch, H., Psaty, B.M., Raitakari, O.T., Ripatti, S., Rotzschke, O., Saha, A., Scholz, M., Schramm, K., Seppälä, I., Slagboom, E.P., Stehouwer, CDA, Stumvoll, M., Sullivan, P., 't Hoen, PAC, Teumer, A., Thiery, J., Tong, L., Tönjes, A., van Dongen, J., van Iterson, M., van Meurs, J., Veldink, J.H., Verlouw, J., Visscher, P.M., Völker, U., Võsa, U., Westra, H.J., Wijmenga, C., Yaghootkar, H., Yang, J., Zeng, B., Zhang, F., Beekman, M., Boomsma, D.I., Bot, J., Deelen, J., Hofman, B.A., Hottenga, J.J., Isaacs, A., Bonder, M.J., Jhamai, P.M., Kielbasa, S.M., Lakenberg, N., Luijk, R., Moed, M., Nooren, I., Pool, R., Schalkwijk, C.G., Slagboom, P.E., Suchiman, HED, Swertz, M.A., Tigchelaar, E.F., Uitterlinden, A.G., van den Berg, L.H., van der Breggen, R., van der Kallen, CJH, van Dijk, F., van Duijn, C.M., van Galen, M., van Greevenbroek, MMJ, van Heemst, D., van Rooij, J., Van't Hof, P., van Zwet, E.W., Vermaat, M., Verbiest, M., Verkerk, M., Zhernakova, D.V., Zhernakova, S., MUMC+: HV - Pieken Maastricht Studie, MUMC+: BC - Interne Geneeskunde, Interne Geneeskunde, RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, RS: CARIM - R3 - Vascular biology, MUMC+: BC - Endocrinologie, MUMC+: BC - Maag Darm Lever, MUMC+: BC - Hematologie, MUMC+: BC - Medische Oncologie, RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, MUMC+: BC - Med.Staf-Artsass. Int. Gen., MUMC+: BC - Nefrologie, MUMC+: BC - Reumatologie, RS: CARIM - R1 - Thrombosis and haemostasis, Biochemie, RS: Carim - B01 Blood proteins & engineering, RS: FHML MaCSBio, University of Helsinki, University of Lausanne, University of Helsinki, University Management, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, Clinical chemistry, Clinical genetics, VU University medical center, APH - Methodology, Biological Psychology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Stem Cell Aging Leukemia and Lymphoma (SALL), Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, Department of Internal Medicine, Department of Epidemiology

Source: Nature communications, vol. 10, no. 1, pp. 3300
Nature Communications, 10:3300. Nature Publishing Group
Nature Communications, 10(1):3300. Nature Publishing Group UK
Nature Communications, 10
Nature Communications, 10(1):3300. Nature Publishing Group
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
eQTLGen Consortium & BIOS Consortium 2019, ' Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits ', Nature Communications, vol. 10, no. 1, 3300 . https://doi.org/10.1038/s41467-019-10936-0
Nature Communications
Nature Communications, 10(1)

Subject Terms: Brain Diseases/genetics, GTP-Binding Protein gamma Subunits, Gene Expression Profiling, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Transcriptome, Chemistry(all), Biochemistry, Genetics and Molecular Biology(all), Physics and Astronomy(all), INSTRUMENTAL VARIABLES, VARIANTS, DISEASE, ASSOCIATION, MUTATION, STATISTICS, EXPRESSION, PLEIOTROPY, OBESITY, FAMILY, 1184 Genetics, developmental biology, physiology, Biochemistry, Genetics and Molecular Biology(all), lcsh:Science, lcsh:Q, General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Single-nucleotide polymorphism, Expression quantitative trait loci, Computational biology, Mendelian randomization, Genome-wide association study, Quantitative trait locus, Pleiotropy, Biology, Mendelian inheritance, symbols.namesake, symbols, Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology, Science, Article, Quantitative trait, Statistical methods, Gene expression, SNP, Genetic association, Locus (genetics)

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Authors: Kretschmer, A., Möller, G., Lee, H., Laumen, H., von Toerne, C., Schramm, K., Prokisch, H., Eyerich, S., Wahl, S., Baurecht, H., Franke, A., Claussnitzer, M., Eyerich, K., Teumer, A., Milani, L., Klopp, N., Hauck, S. M., Illig, T., Peters, A., Waldenberger, M., Adamski, J., Reischl, E., Weidinger, S.

Source: Allergy: European Journal of Allergy and Clinical Immunology. May 01, 2014 69(5):632-642

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Authors: Karin, I., Gallenmüller, C., Haack, T. B., Hartig, M., Hayflick, S. J., Strom, T. M., Meitinger, T., Prokisch, H., Klopstock, T.

Source: European Journal of Neurology. May 01, 2014 21 Suppl 1:207-207

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Authors: Gallenmüller, C., Haack, T. B., Graf, E., Wieland, T., Strom, T. M., Meitinger, T., Prokisch, H., Klopstock, T.

Source: European Journal of Neurology. May 01, 2014 21 Suppl 1:207-207

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Authors: Haack, T. B., Freisinger, P., Mayr, H., Sperl, W., Kornblum, C., Klopstock, T., Strom, T. M., Meitinger, T., Prokisch, H.

Source: European Journal of Neurology. May 01, 2014 21 Suppl 1:94-94

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Authors: KURIAN, M A, HAACK, T B, MEYER, E, KARA, E, HOULDEN, H, BHATIA, K, HARDY, J, KAMINSKA, M, LIN, J P, LASCELLES, K, SAUNDERS, D E, GREGORY, A, MEITINGER, T, PROKISCH, H, HOGARTH, P, HAYFLICK, S J

Source: Developmental Medicine & Child Neurology. Jan 01, 2013 55 Suppl 1:8-9

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00003434-201301001-00018.an

Authors: Timmers, Paul RHJ, Mounier, Ninon, Lall, Kristi, Fischer, Krista, Ning, Zheng, Feng, Xiao, Bretherick, Andrew D, Clark, David W, Agbessi, M, Ahsan, H, Alves, I, Andiappan, A, Awadalla, P, Battle, A, Bonder, MJ, Boomsma, D, Christiansen, M, Claringbould, A, Deelen, P, van Dongen, J, Esko, T, Favé, M, Franke, L, Frayling, T, Gharib, SA, Gibson, G, Hemani, G, Jansen, R, Kalnapenkis, A, Kasela, S, Kettunen, J, Kim, Y, Kirsten, H, Kovacs, P, Krohn, K, Kronberg-Guzman, J, Kukushkina, V, Kutalik, Z, Kähönen, M, Lee, B, Lehtimäki, T, Loeffler, M, Marigorta, U, Metspalu, A, van Meurs, J, Milani, L, Müller-Nurasyid, M, Nauck, M, Nivard, M, Penninx, B, Perola, M, Pervjakova, N, Pierce, B, Powell, J, Prokisch, H, Psaty, BM, Raitakari, O, Ring, S, Ripatti, S, Rotzschke, O, Ruëger, S, Saha, A, Scholz, M, Schramm, K, Seppälä, I, Stumvoll, M, Sullivan, P, Teumer, A, Thiery, J, Tong, L, Tönjes, A, Verlouw, J, Visscher, PM, Võsa, U, Völker, U, Yaghootkar, H, Yang, J, Zeng, B, Zhang, F, Shen, Xia, Esko, Tõnu, Kutalik, Zoltán, Wilson, James F, Joshi, Peter K, eQTLGen Consortium

Contributors: Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, Lääketieteen ja terveysteknologian tiedekunta - Faculty of Medicine and Health Technology, Tampere University, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Biological Psychology, APH - Personalized Medicine, eQTLGen Consortium, University of Helsinki, Institute for Molecular Medicine Finland, University of Helsinki, National Institute for Health and Welfare (THL), University of Helsinki, Centre of Excellence in Complex Disease Genetics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)

Source: eLife, 8. eLife Sciences Publications Limited
eQTLGen Consortium, Timmers, P R, Mounier, N, Lall, K, Fischer, K, Ning, Z, Feng, X, Bretherick, A D & Clark, D W 2019, ' Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances ', eLife, vol. 8 . https://doi.org/10.7554/eLife.39856
eLife
2019, ' Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances ', eLIFE, vol. 8, e39856 . https://doi.org/10.7554/eLife.39856
eLife, 8:e39856, 1-40. eLife Sciences Publications
eLife, vol. 8, pp. e39856
eLife, Vol 8 (2019)
eLife, 8:39856. ELIFE SCIENCES PUBLICATIONS LTD

Subject Terms: complex trait, genetics, genomics, human, lifespan, longevity, Neuroscience(all), Biochemistry, Genetics and Molecular Biology(all), Immunology and Microbiology(all), Biolääketieteet - Biomedicine, Biochemistry, Genetics and Molecular Biology(all), Research Communication, Genetics and Genomics, General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Medicine, General Neuroscience, Bioinformatics, Dementia, medicine.disease, medicine, Biology, Disease, Locus (genetics), Population, education.field_of_study, education, Genome-wide association study, Longevity, media_common.quotation_subject, media_common, Dorsolateral prefrontal cortex, medicine.anatomical_structure, Genomics, Age Factors, Aged, Bayes Theorem, DNA Methylation/genetics, Disease/genetics, Female, Genetic Loci, Genome-Wide Association Study, Humans, Longevity/genetics, Male, Middle Aged, Multifactorial Inheritance/genetics, Parents, Polymorphism, Single Nucleotide/genetics, Risk Factors, Sex Characteristics, Signal Transduction/genetics, Survival Analysis, ta3111, WIDE ASSOCIATION, HUMAN LONGEVITY, RISK, GWAS, GENE, HERITABILITY, METAANALYSIS, POPULATION, SELECTION, MODELS, 3111 Biomedicine, Medicine, Science, Biology (General), QH301-705.5

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https://research.vumc.nl/en/publications/81c01164-94f3-4740-91d6-9a6d94f5dedc

Authors: Olsen, R.K.J., Koå, 710, aå, 8482, 227, 173, kovã, 161, Giancaspero, T.A., Mosegaard, S., Boczonadi, V., Matakoviä, 8225, Veauville MerlliÃ, 169, Terrile, C., Schwarzmayr, T., Haack, T.B., Auranen, M., Leone, P., Galluccio, M., Imbard, A., Gutierrez Rios, P., Palmfeldt, J., Graf, E., Vianey Saban, C., Oppenheim, M., Schiff, M., Pichard, S., Rigal, O., Pyle, A., Chinnery, P.F., Konstantopoulou, V., Mã, 182, slinger, D., Feichtinger, R.G., Talim, B., Topaloglu, H., Coskun, T., Gucer, S., Botta, A., Pegoraro, E., Malena, A., Vergani, L., Mazzã, amp, nbsp, Zollino, M., Ghezzi, D., Acquaviva, C., Tyni, T., Boneh, A., Meitinger, T., Strom, T.M., Gregersen, N., Mayr, J.A., Horvath, R., Barile, M., Prokisch, H.

Contributors: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université de Lyon-Institut National des Sciences Appliquées (INSA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Institut National de la Recherche Agronomique (INRA), Institut National de la Recherche Agronomique (INRA)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National des Sciences Appliquées de Lyon (INSA Lyon), Université de Lyon-Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hospices Civils de Lyon (HCL), University of Helsinki, Anu Wartiovaara / Principal Investigator, University of Helsinki, Research Programme for Molecular Neurology, Meyer Foundation, Danish Council for Independent Research, Aarhus University Research Foundation, European Commission, Ministero della Salute, European Research Council, Medical Research Council (UK), Federal Ministry of Education and Research (Germany), Fondazione Telethon

Source: Olsen, R K J, Koňaříková, E, Giancaspero, T A, Mosegaard, S, Boczonadi, V, Mataković, L, Veauville-Merllié, A, Terrile, C, Schwarzmayr, T, Haack, T B, Auranen, M, Leone, P, Galluccio, M, Imbard, A, Gutierrez-Rios, P, Palmfeldt, J, Graf, E, Vianey-Saban, C, Oppenheim, M, Schiff, M, Pichard, S, Rigal, O, Pyle, A, Chinnery, P F, Konstantopoulou, V, Möslinger, D, Feichtinger, R G, Talim, B, Topaloglu, H, Coskun, T, Gucer, S, Botta, A, Pegoraro, E, Malena, A, Vergani, L, Mazzà, D, Zollino, M, Ghezzi, D, Acquaviva, C, Tyni, T, Boneh, A, Meitinger, T, Strom, T M, Gregersen, N, Mayr, J A, Horvath, R, Barile, M & Prokisch, H 2016, ' Riboflavin-Responsive and-Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency ', American Journal of Human Genetics, vol. 98, no. 6, pp. 1130-45 . https://doi.org/10.1016/j.ajhg.2016.04.006
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1130-45

Subject Terms: Genetics(clinical), Genetics, [SDV]Life Sciences [q-bio], Article, Adult, Blotting, Western, Case-Control Studies, Cells, Cultured, Electron Transport, Female, Fibroblasts, Flavin-Adenine Dinucleotide, Frameshift Mutation, Gene Expression Profiling, Humans, Infant, Infant, Newborn, Liver, Male, Mitochondrial Diseases, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Muscle, Skeletal, Mutagenesis, Site-Directed, Nucleotidyltransferases, Protein Binding, RNA, Messenger, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Riboflavin, Skin, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Vitamin B Complex, Young Adult, Genetics (clinical), ELECTRON-TRANSFER FLAVOPROTEIN, VIALETTO-VAN LAERE, OVER-EXPRESSION, FUNCTIONAL-CHARACTERIZATION, ESCHERICHIA-COLI, ISOFORM 2, MITOCHONDRIA, DISEASE, SYNTHETASE, COFACTORS, 3111 Biomedicine, Settore MED/03 - Genetica Medica, Phenotype, Cofactor, biology.protein, biology, Dehydrogenase, Mitochondrion, Flavin adenine dinucleotide, chemistry.chemical_compound, chemistry, Biochemistry, Gene expression profiling, Frameshift mutation, Multiple Acyl-CoA Dehydrogenase Deficiency

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0648ab861900f18a779a0e869eb00f88

Authors: Elstner, M, Morris, C, Metha, D, Mader, M, Klopstock, T, Prokisch, H, Turnbull, D

Source: Aktuelle Neurologie; 20230101, Issue: Preprints

Authors: van den Bosch, B J C, Gerards, M, Sluiter, W, Stegmann, A P A, Jongen, E L C, Hellebrekers, D M E I, Oegema, R, Lambrichs, E H, Prokisch, H, Danhauser, K, Schoonderwoerd, K, de Coo, I F M, Smeets, H J M

Source: Journal of Medical Genetics. Jan 01, 2012 49(1):10-15

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00005005-201201000-00002.an

Authors: Pham, T. T., Giesert, F., Röthig, A., Floss, T., Kallnik, M., Weindl, K., Hölter, S. M., Ahting, U., Prokisch, H., Becker, L., Klopstock, T., Hrabé de Angelis, M., Beyer, K., Görner, K., Kahle, P. J., Vogt Weisenhorn, D. M., Wurst, W.

Source: Genes, Brain and Behavior. Apr 01, 2010 9(3):305-317

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00134380-201004000-00006.an

Authors: Rodríguez, E, Gieger, C, Baurecht, H, Mempel, M, Wagenpfeil, S, Ollert, M, Ring, J, Behrendt, H, Heinrich, J, Novak, N, Bieber, T, Prokisch, H, Depner, M, von Mutius, E, Liang, L, Moffatt, M, Cookson, W, Kabesch, M, Wichmann, H, Illig, T, Weidinger, S

Source: Allergy: European Journal of Allergy and Clinical Immunology. Jan 01, 2009 64 Suppl 90:50-50

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00000381-200964001-00103.an

Authors: Danhauser, K., Herebian, D., Haack, T.B., Rodenburg, R.J., Strom, T.M., Meitinger, T., Klee, D., Mayatepek, E., Prokisch, H., Distelmaier, F.

Source: European Journal of Human Genetics, 24, 450-454

Subject Terms: Genetics(clinical), Genetics, Encephalopathy, medicine.disease, medicine, Internal medicine, medicine.medical_specialty, Mitochondrial respiratory chain, Biology, Respiratory chain complex, Lactic acidosis, Exome sequencing, Neonatal encephalopathy, Endocrinology, Coenzyme Q10, chemistry.chemical_compound, chemistry, Respiratory chain, Short Report

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51e715d4b70f1f491783b6f3b244981
http://www.nature.com/articles/ejhg2015133.pdf

Authors: Repp, B.M., Mastantuono, E., Alston, C.L., Schiff, M., Haack, T.B., Rö, tig, A., Ardissone, A., Lombè, s, A., Catarino, C.B., Diodato, D., Schottmann, G., Poulton, J., Burlina, A., Jonckheere, A., Munnich, A., Rolinski, B., Ghezzi, D., Rokicki, D., Wellesley, D., Martinelli, D., Wenhong, D., Lamantea, E., Ostergaard, E., Pronicka, E., Pierre, G., Smeets, H.J.M., Wittig, I., Scurr, I., De Coo, I.F.M., Moroni, I., Smet, J., Mayr, J.A., Dai, L., De Meirleir, L., Schuelke, M., Zeviani, M., Morscher, R.J., McFarland, R., Seneca, S., Klopstock, T., Meitinger, T., Wieland, T., Strom, T.M., Herberg, U., Ahting, U., Sperl, W., Nassogne, M., Ling, H., Fang, F., Freisinger, P., Van Coster, R., Strecker, V., Taylor, R.W., Hä, berle, J., Vockley, J., Prokisch, H., Wortmann, S.

Contributors: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, RS: FHML MaCSBio, Department of Neurology

Source: Orphanet Journal of Rare Diseases, Vol. 13, no. 1, p. 120 [1-10] (2018)
Orphanet journal of rare diseases
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd
Repp, Birgit M; Mastantuono, Elisa; Alston, Charlotte L; et al; Häberle, Johannes (2018). Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet Journal of Rare Diseases, 13:120.
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Repp, B M, Mastantuono, E, Alston, C L, Schiff, M, Haack, T B, Rötig, A, Ardissone, A, Lombès, A, Catarino, C B, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H J M, Wittig, I, Scurr, I, de Coo, I F M, Moroni, I, Smet, J, Mayr, J A, Dai, L, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R J, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T M, Herberg, U, Ahting, U, Sperl, W, Nassogne, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R W, Häberle, J, Vockley, J, Prokisch, H & Wortmann, S 2018, ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? ', Orphanet Journal of Rare Diseases, vol. 13, 120 . https://doi.org/10.1186/s13023-018-0784-8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet journal of rare diseases, 13(1)
Orphanet Journal of Rare Diseases 13(1) 120

Subject Terms: Activities of daily living, Cardiomyopathy, Complex I, Heart transplantation, Lactic acidosis, Mitochondrial disorder, Neonatal, Prognosis, Treatment, Vitamin, Genetics (clinical), Pharmacology (medical), Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia, Genetics(clinical), General Medicine, medicine.disease, medicine, Mitochondrial respiratory chain complex I, medicine.medical_treatment, business.industry, business, Cohort, Internal medicine, medicine.medical_specialty, Riboflavin, Exercise intolerance, medicine.symptom, Disease, Human medicine, ddc:610, Munich Cluster for Systems Neurology (SyNergy), Research, ddc, COMPLEX-I DEFICIENCY, PHENOTYPIC SPECTRUM, SKELETAL-MUSCLE, OXIDATION, MUTATIONS, BEZAFIBRATE, DISORDERS, DIAGNOSIS, CELLS, PAGE, Medical Clinic, 610 Medicine & health, lcsh:Medicine, lcsh:R, Acidosis/genetics, Acyl-CoA Dehydrogenase/deficiency, Amino Acid Metabolism, Inborn Errors/genetics, Cardiomyopathy, Hypertrophic/genetics, Electron Transport Complex I/metabolism, Female, Humans, Male, Mitochondrial Diseases/genetics, Muscle Weakness/drug therapy, Riboflavin/therapeutic use, Journal Article, Research Support, Non-U.S. Gov't, Medicine and Health Sciences, Biology and Life Sciences

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Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccb5c71e31a57b8e58924e578694e05c

Authors: Horváth, R, Abicht, A, Holinski-Feder, E, Laner, A, Gempel, K, Prokisch, H, Lochmüller, H, Klopstock, T, Jaksch, M

Source: JOURNAL OF NEUROLOGY, NEUROSURGERY, & PSYCHIATRY. Jan 01, 2006 77(1):74-76

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00005069-200601000-00019.an

Authors: Prokisch, H., Andreoli, C., Ahting, U., Heiss, K., Ruepp, A., Scharfe, C., Meitinger, T.

Source: Nucleic Acids Research. Jan 01, 2006 34 Database Issue:D705-D711

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00006178-200601011-00149.an

Authors: Andreoli, C., Prokisch, H., Hörtnagel, K., Mueller, J. C., Münsterkötter, M., Scharfe, C., Meitinger, T.

Source: Nucleic Acids Research. Jan 01, 2004 32(Database Issue):D459-D462

Availability: http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=fulltext&D=ovft&CSC=Y&NEWS=N&SEARCH=00006178-200401010-00110.an

Authors: Wahl, S., Drong, A., Lehne, B., Loh, M., Scott, W.R., Kunze, S., Tsai, P., Ried, J.S., Zhang, W., Yang, Y., Tan, S., Fiorito, G., Franke, L., Guarrera, S., Kasela, S., Kriebel, J., Richmond, R.C., Adamo, M., Afzal, U., Ala Korpela, M., Albetti, B., Ammerpohl, O., Apperley, J.F., Beekman, M., Bertazzi, P.A., Black, S.L., Blancher, C., Bonder, M., Brosch, M., Carstensen Kirberg, M., De Craen, A.J.M., De Lusignan, S., Dehghan, A., Elkalaawy, M., Fischer, K., Franco, O.H., Gaunt, T.R., Hampe, J., Hashemi, M., Isaacs, A., Jenkinson, A., Jha, S., Kato, N., Krogh, V., Laffan, M., Meisinger, C., Meitinger, T., Mok, Z.Y., Motta, V., H. K., N., Nikolakopoulou, Z., Nteliopoulos, G., Panico, S., Pervjakova, N., Prokisch, H., Rathmann, W., Roden, M., Rota, F., Rozario, M.A., Sandling, J.K., Schafmayer, C., Schramm, K., Siebert, R., Slagboom, P.E., Soininen, P., Stolk, L., Strauch, K., Tai, E., Tarantini, L., Thorand, B., Tigchelaar, E.F., Tumino, R., Uitterlinden, A.G., Van Duijn, C., Van Meurs, J.B.J., Vineis, P., Wickremasinghe, A.R., Wijmenga, C., Yang, T., Yuan, W., Zhernakova, A., Batterham, R.L., Smith, G.D., Deloukas, P., Heijmans, B.T., Herder, C., Hofman, A., Lindgren, C.M., Milani, L., Van Der Harst, P., Peters, A., Illig, T., Relton, C.L., Waldenberger, M., Jä, rvelin, M., Bollati, V., Soong, R., Spector, T.D., Scott, J., Mccarthy, M.I., Elliott, P., Bell, J.T., Matullo, G., Gieger, C., Kooner, J.S., Grallert, H., Chambers, J.C.

Contributors: Erasmus MC: University Medical Center Rotterdam, Department of Epidemiology, RS: FHML MaCSBio, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Cardiovascular Centre (CVC), Stem Cell Aging Leukemia and Lymphoma (SALL), British Heart Foundation, Medical Research Council (MRC), Wellcome Trust, National Institute for Health Research, Imperial College Healthcare NHS Trust- BRC Funding, Action on Hearing Loss, British Society For Haematology

Source: Nature, 541(7635), 81
Nature: international weekly journal of science, 541(7635), 81-86
Nature
Nature, 541(7635), 81-86. Nature Publishing Group
Wahl, S, et al., Richmond, R C, Ala-Korpela, M, Gaunt, T, Davey Smith, G & Relton, C L 2017, ' Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity ', Nature, vol. 541, no. 7635, pp. 81-86 . https://doi.org/10.1038/nature20784
Nature, 541(81), 81-86. Nature Publishing Group

Subject Terms: Article, Adipose Tissue/metabolism, Adiposity/genetics, Asian Continental Ancestry Group/genetics, Blood/metabolism, Body Mass Index, Cohort Studies, DNA Methylation/genetics, Diabetes Mellitus, Type 2/complications, Epigenesis, Genetic, Epigenomics, Europe/ethnology, European Continental Ancestry Group/genetics, Female, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, India/ethnology, Male, Obesity/blood, Overweight/blood, DNA METHYLATION, MENDELIAN RANDOMIZATION, TRENDS, GLUCOSE, BARIATRIC SURGERY, HEALTH, TISSUE, OBESITY, DISEASE, Obesity, Adipose Tissue, Adiposity, Asian Continental Ancestry Group, Blood, DNA Methylation, Diabetes Mellitus, Type 2, Europe, European Continental Ancestry Group, India, Overweight, Medicine (all), Multidisciplinary, Settore MED/44 - Medicina del Lavoro, Internal medicine, medicine.medical_specialty, medicine, DNA methylation, Genome-wide association study, Epigenome, Endocrinology, Genetic association, Biology, Methylation, Genetics, Type 2 diabetes, medicine.disease, Body mass index, Diabetes Mellitus, Type 2/complications, Epigenesis, Genetic, Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, MD Multidisciplinary, General Science & Technology

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Access URL: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8882d6c81a5693b8bed088494c24a17
http://hdl.handle.net/1887/115861