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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Akademický článek
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Autor:
Ranta-Aho J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Felice KJ; Department of Neuromuscular Medicine, Hospital for Special Care, 2150 Corbin Avenue, New Britain, Connecticut, 06053, USA., Jonson PH; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Sarparanta J; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland., Yvorel C; Cardiology Department, Hôpital Nord, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Harzallah I; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Touraine R; Genetic Department, Hôpital Nord, CHU de Saint Etienne, Avenue Albert Raimond, Saint Priest-en-Jarez, 42270, France., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 2 Brookline Place, Boston, Massachusetts, 02445, USA., Austin-Tse CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Department of Neurology, Brigham and Women's Hospital, 60 Fenwood Road, Boston, Massachusetts, 02115, USA., O'Leary MC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, 105 Broadway, Cambridge, Massachusetts, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Boston, Massachusetts, 02114, USA., Hehir MK; Department of Neurology, Larner College of Medicine at the University of Vermont, 149 Beaumont Avenue, Burlington, Vermont, 05405, USA., Subramony S; Department of Neurology, University of Florida College of Medicine, 1505 SW Archer Road, Gainesville, Florida, 32610, USA., Wu Q; Department of Pathology, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, Connecticut, 06030, USA., Udd B; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University and Tampere University Hospital, Biokatu 8, Tampere, 33520, Finland., Savarese M; Folkhälsan Research Center, Haartmaninkatu 8, 00290, Helsinki, Finland.; Department of Medical Genetics, Medicum, University of Helsinki, Haartmaninkatu 8, Helsinki, 00290, Finland.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Sep; Vol. 11 (9), pp. 2392-2405. Date of Electronic Publication: 2024 Aug 02.
Autor:
Claeys KG; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Savarese M; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Jonson PH; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Goosens V; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Topf A; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Vihola A; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Straub V; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland., Udd B; From the Department of Neurology (K.G.C.), University Hospitals Leuven; Department of Neurosciences (K.G.C.), Laboratory for Muscle Diseases and Neuropathies, KU Leuven, and Leuven Brain Institute (LBI), Belgium; Folkhälsan Research Center and Medicum (M.S., P.H.J., A.V., B.U.), University of Helsinki, Finland; Department of Radiology (V.G.), University Hospitals Leuven, Belgium; John Walton Muscular Dystrophy Research Centre (A.T., V.S.), Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Neuromuscular Research Center (B.U.), Department of Neurology, Tampere University and University Hospital; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2024 Aug 12; Vol. 10 (5), pp. e200185. Date of Electronic Publication: 2024 Aug 12 (Print Publication: 2024).
Autor:
Zhong H; Department of Neurology, Huashan Rare Disease Center, Huashan Hospital, Fudan University, Shanghai, China. huatwofold@outlook.com., Sian V; Department of Precision Medicine, 'Luigi Vanvitelli' University of Campania, Via L. De Crecchio 7, Naples, Italy., Johari M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia., Katayama S; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden., Oghabian A; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Jonson PH; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Hackman P; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Savarese M; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland., Udd B; Department of Medical and Clinical Genetics, Folkhälsan Research Center, Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, University Hospital, Tampere, Finland.
Publikováno v:
Communications biology [Commun Biol] 2024 Apr 10; Vol. 7 (1), pp. 438. Date of Electronic Publication: 2024 Apr 10.
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.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Tuite A; Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA., Van den Bergh P; Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium., VanNoy G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands., Wanschitz JV; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Wraige E; Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK., Yoshimura K; Department Neurology, Nankoku Hospital, Kochi, Japan., Oates EC; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia., Nakagawa O; Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan., Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France., Vilchez JJ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Neuromuscular Research Group, IIS La Fe, Valencia, Spain., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK., Cordell HJ; Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Udd B; 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., Busch-Nentwich EM; 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., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, UCL & Great Ormond Street Hospital Trust, London, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. volker.straub@ncl.ac.uk.
Publikováno v:
Nature genetics [Nat Genet] 2024 Mar; Vol. 56 (3), pp. 395-407. Date of Electronic Publication: 2024 Mar 01.