Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Cummings BB"'
Autor:
Sarah R. Pickles, Gaeun Kim, D. W. Dickson, Green Em, Sallee N, Miller G, Harbinski F, Karen Jansen-West, R. C. Petersen, B. F. Boeve, Koike Y, Aaron D. Gitler, Wyatt Dw, Bjorn Oskarsson, Leonard Petrucelli, Hermann Broder Schmidt, Mercedes Prudencio, William W. Seeley, Rodriguez Cm, D. S. Knopman, Xiao Ma, Cummings Bb, Sarat C. Vatsavayai, Kurylo K, Neil Graff-Radford, Casey Cook, Mekhoubad S
A hallmark pathological feature of neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the brain and spinal cord. A major funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3d2eb3026354c7a43fa69512ed6b09e
https://doi.org/10.1101/2021.04.02.438213
https://doi.org/10.1101/2021.04.02.438213
Autor:
Minikel, EV, Karczewski, KJ, Martin, HC, Cummings, BB, Whiffin, N, Rhodes, D, Alfoldi, J, Trembath, RC, Van Heel, DA, Daly, MJ, Schreiber, SL, MacArthur, DG
Publikováno v:
E56
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::5580f0fe5da7b258ccd0cf8852036867
http://hdl.handle.net/10044/1/89827
http://hdl.handle.net/10044/1/89827
Autor:
Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O’Donnell-Luria, AH, Vallabh Minikel, E, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, JM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, J, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Genome Aggregation Database (gnomAD) Consortium, Neale, BM, Daly, MJ, MacArthur, DG
Publikováno v:
Nature
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6347c7a6a3b85daab7617d0e0fc1f8ca
https://trepo.tuni.fi/handle/10024/128033
https://trepo.tuni.fi/handle/10024/128033
Autor:
Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Neale, BM, Daly, MJ, MacArthur, DG
Publikováno v:
E4
E3
E3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::1e8be7f3028cd4fe32f1efd8dec51c61
http://hdl.handle.net/10044/1/95288
http://hdl.handle.net/10044/1/95288
Autor:
Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, N, Cole, JB, Wang, Q, Karczewski, KJ, Cummings, BB, Francioli, L, Laricchia, K, Guan, A, Alipanahi, B, Morrison, P, Baptista, MAS, Merchant, KM, Genome Aggregation Database Production Team^, Genome Aggregation Database Consortium, Ware, J, Havulinna, AS, Iliadou, B, Lee, J-J, Nadkarni, GN, Whiteman, C, Daly, M, Esko, T, Hultman, C, Loos, RJF, Milani, L, Palotie, A, Pato, C, Pato, M, Saleheen, D, Sullivan, PF, Alföldi, J, Cannon, P, MacArthur, DG
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation, and can be valuable indicators of gene function and the potential toxicity of therapeutic in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::4e37a64e74f116dc45d95c97484b4984
http://hdl.handle.net/10044/1/79583
http://hdl.handle.net/10044/1/79583
Autor:
Minikel, EV, Karczewski, KJ, Martin, HC, Cummings, BB, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, RC, Van Heel, DA, Daly, MJ, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber, SL, MacArthur, DG
Naturally occurring human genetic variants predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements cell and model organism knockout studies. Here we report three key findings regarding assessm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::852609b83ffbece9686f0fdb2001d3b7
http://hdl.handle.net/10044/1/78192
http://hdl.handle.net/10044/1/78192
Autor:
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou-Munoz C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG
Publikováno v:
JCI Insight
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes of mutations that may serve as potential targets for precision medicine therapeutics. Here, we show that a deep intronic splice defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::356cc5223cc739e1ed0f9ebd4d5542dc
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16101
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16101
Autor:
Agrawal S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Medicine, Massachusetts General Hospital, Boston, MA.; Department of Medicine, Harvard Medical School, Boston, MA., Luan J; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge Biomedical Campus, Cambridge, U.K., Cummings BB; Marea Therapeutics, San Francisco, CA., Weiss EJ; Marea Therapeutics, San Francisco, CA., Wareham NJ; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge, Cambridge Biomedical Campus, Cambridge, U.K., Khera AV; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Medicine, Harvard Medical School, Boston, MA.; Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA.; Verve Therapeutics, Boston, MA.
Publikováno v:
Diabetes [Diabetes] 2024 Jul 01; Vol. 73 (7), pp. 1099-1111.
Autor:
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Guirguis F; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Orbach R; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Dana-Dwek Children's Hospital, Tel Aviv 64239, Israel., McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Sarathy A; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Norato G; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Cummings BB; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Lek M; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK., Butterfield RJ; Departments of Neurology and Pediatrics, University of Utah, Salt Lake City, UT 84132, USA., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg 79110, Germany., Nascimento A; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain., Benito DN; Neuromuscular Unit, Neuropediatrics Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu. CIBERER ISCIII. Barcelona 08950, Spain., Quijano-Roy S; Garches Neuromuscular Reference Center, Child Neurology and ICU Department, APHP Raymond Poincare University Hospital (UVSQ Paris Saclay), Garches 92380, France., Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris 75013, France., Merlini L; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40126, Italy., Comi G; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Ryan M; Department of Neurology, The Royal Children's Hospital, Parkville, VIC 3052, Australia., McDonald D; Department of Neurodisability, Children's Health Ireland at Tallaght, Dublin 24 Ireland., Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK., Yoon G; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Leung E; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada., Finanger E; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.; Department of Pediatrics and Neurology, Oregon Health & Science University, Portland, OR 97239, USA., Collins J; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Tian C; Divisions of Neurology and Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA., Cocanougher BT; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., Chu ML; Department of Neurology, New York University School of Medicine, New York, NY 10016, USA., Scavina M; Division of Neurology, Nemours Children's Hospital Delaware, Wilmington, DE 19803, USA., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA 92123, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA., Kossak BD; Department of Neurology, Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA., Gospe SM Jr; Department of Neurology and Pediatrics, University of Washington, Seattle, WA 98105, USA., Bhise V; Departments of Pediatrics and Neurology, Rutgers Robert Wood Johnson Medical School, Rutgers University, New Brunswick, NJ 08901, USA., Taurina G; Children's Clinical University Hospital, Medical Genetics and Prenatal Diagnostic Clinic, Riga 1004, Latvia., Lace B; Riga East Clinical University, Institute of Clinical and Preventive Medicine of the University of Latvia, Riga 1586, Latvia., Troncoso M; Pediatric Neuropsychiatry Service, Hospital Clínico San Borja Arriarán, Pediatric Department, Universidad de Chile, Santiago 1234, Chile., Shohat M; The Genomics Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan 52621, Israel., Shalata A; The Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 32000, Israel., Chan SHS; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, China., Jokela M; Clinical Neurosciences, University of Turku, Turku, Finland and Neurocenter, Turku University Hospital, Turku 20520, Finland.; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland., Palmio J; Neuromuscular Research Center, Tampere University and Tampere University Hospital, Tampere 33101, Finland., Haliloğlu G; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara 06230, Turkey., Jou C; Pathology department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona 08950, Spain., Gartioux C; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France., Solomon-Degefa H; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Freiburg CD; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Schiavinato A; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Zhou H; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK., Aguti S; Neurodegenerative Disease Department, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Nevo Y; Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan., Jimenez-Mallebrera C; Laboratorio de Investigación Aplicada en Enfermedades Neuromusculares, Unidad de Patología Neuromuscular, Servicio de Neuropediatría, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain., Lamandé SR; Department of Paediatrics, University of Melbourne, The Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Allamand V; INSERM, Institut de Myologie, Centre de Recherche en Myologie, Sorbonne Université, Paris 75013, France., Gualandi F; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy., Ferlini A; Unit of Medical Genetics, Department of Medical Sciences and Department of Mother and Child, University Hospital S. Anna Ferrara, Ferrara 44121, Italy., MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University; Centre for Neuromuscular and Neurological Disorders, Perron Institute for Neurological and Translational Science, The University of Western Australia, Nedlands, WA 6009, Australia., Wagener R; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne 50931, Germany., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London WC1N 1EH, UK.; National Institute of Health Research, Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Mar 29. Date of Electronic Publication: 2024 Mar 29.
Autor:
Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ana.topf@ncl.ac.uk., Cox D; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Di Leo V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Life Sciences, University of Trieste, Trieste, Italy., Sarparanta J; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Jonson PH; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Sealy IM; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK., Smolnikov A; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., White RJ; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK., Vihola A; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland., Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland., Merteroglu M; School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy., Wali N; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Venturini C; Division of Infection and Immunity, University College London, London, UK., Vroling B; Bio-Prodict, Nijmegen, The Netherlands., Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Cummings BB; Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy., Harris E; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK., Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Henderson M; Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Barresi R; IRCCS San Camillo Hospital, Venice, Italy., Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Patrick J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK., Al-Husayni S; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Biancalana V; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Bodi I; Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK., Bommireddipalli S; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Cairns A; Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia., Chiew MT; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Claeys KG; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium., Cooper ST; Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia., Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Erasmus CE; Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands., Fassad MR; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Grosmann C; Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA., Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Löscher WN; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Malfatti E; APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Creteil, France., Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Martí P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain., Mongini TE; Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino, Torino, Italy., Muelas N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain.; Department of Medicine, Universitat de Valencia, Valencia, Spain.; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain., Nishikawa A; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Ogonuki N; RIKEN BioResource Research Center, Tsukuba, Japan., O'Grady GL; Starship Children's Health, Auckland District Health Board, Auckland, New Zealand., O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Paquay S; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Pletcher BA; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA., Romero NB; Neuromuscular Morphology Unit, Myology Institute, Sorbonne Université, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), GH Pitié-Salpêtrière, Paris, France., Schouten M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Shah S; Department of Neurology, Perth Children's Hospital, Nedlands, Western Australia, Australia., Smuts I; Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa., Sznajer Y; Center for Human Genetic, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium., Tasca G; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS 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.; 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Publikováno v:
Nature genetics [Nat Genet] 2024 Mar; Vol. 56 (3), pp. 395-407. Date of Electronic Publication: 2024 Mar 01.