| Authors: |
Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Schuermans N; Program for Undiagnosed Rare Diseases (UD-PrOZA), Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Sommer AK; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Thomas C; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK., Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy., Bullich G; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK., Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Cohen E; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Danis D; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA., de Sainte Agathe JM; Department of Genetics, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Pitié-Salpêtrière University Hospital, Paris, France., Denommé-Pichon AS; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France., 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., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Faivre L; University of Burgundy, Dijon, France.; Genetics Department, Dijon University Hospital, Dijon, France.; Centre of Reference for Rare Diseases: Development Disorders and Malformation Syndromes, Dijon University Hospital, Dijon, France.; University of Burgundy-Franche Comté, Dijon, France.; GIMI institute, Dijon University Hospital, Dijon, France., Fernandez-Callejo M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Freeberg M; European Bioinformatics Institute, European Molecular Biology Laboratory, Cambridge, UK., Garcia-Pelaez J; Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal., Guillot-Noel L; Institut du Cerveau, Sorbonne University, Paris, France., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hanna M; MRC Centre for Neuromuscular Diseases and National Hospital for Neurology and Neurosurgery, UCL Queen Square Institute of Neurology, London, UK., Hengel H; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Johansson L; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Johari M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Kellner M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands., Lacombe D; MRGM, Maladies Rares: Génétique et Métabolisme, INSERM U1211, Université de Bordeaux, Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France., Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada., López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain., Macaya A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Marcé-Grau A; Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Musacchia F; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nelson I; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Nigro V; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Olimpio C; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Oliveira C; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.; Faculty of Medicine, University of Porto, Porto, Portugal.; Institut du Cerveau, Sorbonne University, Paris, France., Paulasová Schwabová J; Centre of Hereditary Ataxia, Department of Neurology, Charles University Prague-2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Pauly MG; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University Hospital Schleswig Holstein, Lübeck, Germany., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peters S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Piluso G; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Posada M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain., Reich S; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Renieri A; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Medical Genetics, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Ryba L; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Šablauskas K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Institute of Data Science and Digital Technologies, Vilnius University, Vilnius, Lithuania., Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland., Schöls L; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Steinke-Lange V; Medizinische Klinik und Poliklinik IV - Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; MGZ - Medical Genetics Center, Munich, Germany., Stevanin G; Institut du Cerveau, Sorbonne University, Paris, France., 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., Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Te Paske IBAW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Thompson R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Trainor C; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Udd B; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere, Finland.; Vasa Central Hospital, Vaasa, Finland., Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium., van de Warrenburg B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., van Reeuwijk J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Vitobello A; University of Burgundy, Dijon, France.; Functional Unit for Diagnostic Innovation in Rare Diseases, Dijon Bourgogne University Hospital, Dijon, France., Vos J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Vyhnálková E; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Wijngaard R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., William D; Institute of Clinical Genetics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; National Center for Tumor Diseases (NCT), Dresden, Germany., Xu J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Yaldiz B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Zalatnai L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Brookes AJ; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Evangelista T; Centre de Recherche en Myologie, Sorbonne Université, Inserm, Institut de Myologie, Paris, France., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Hoogerbrugge N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; NGS Competence Center Tübingen (NCCT), University of Tübingen, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany., Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany., Verloes A; Dept of Genetics, Assistance Publique-Hôpitaux de Paris, Université de Paris, Robert DEBRE University Hospital, Paris, France.; INSERM UMR 1141 'NeuroDiderot', Hôpital Robert DEBRE, Paris, France., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Development and Oncology, University of Maastricht, Maastricht, the Netherlands., Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany., de Voer RM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands., 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., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain. sergi.beltran@cnag.eu.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.eu., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Radboud Institute for Medical Innovation, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, the Netherlands. alexander.hoischen@radboudumc.nl. |
