New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Autor: Alonso-Pérez J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain., González-Quereda L; U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain., Bello L; Department of Neuroscience, University of Padova, Padova, Italy., Guglieri M; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Gallano P; U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain., Semplicini C; Department of Neuroscience, University of Padova, Padova, Italy., Pegoraro E; Department of Neuroscience, University of Padova, Padova, Italy., Zangaro V; Department of Neuroscience, University of Padova, Padova, Italy., Nascimento A; Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain., Ortez C; Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain., Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy., Dam LT; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands., De Visser M; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands., van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands., Garrido C; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal., Santos M; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal., Schara U; Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany., Gangfuß A; Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany., Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark., Storgaard JH; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark., Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark., Schoser B; Friedrich-Baur-Institute, Department of Neurology Klinikum München Ludwig-Maximilians-University Munich, Munich, Germany., Dekomien G; Department of Human Genetics, Ruhr-University Bochum, Germany., Udd B; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland., Palmio J; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland., D'Amico A; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy., Politano L; Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy., Nigro V; Department of Precision Medicine - University of Campania, Naples, Italy., Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy., Panicucci C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy., Sarkozy A; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK., Abdel-Mannan O; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK., Alonso-Jimenez A; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Claeys KG; Department of Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium., Gomez-Andrés D; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Munell F; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Costa-Comellas L; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain., Haberlová J; Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic., Rohlenová M; Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic., Elke V; Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium., De Bleecker JL; Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium., Dominguez-González C; Department of Neuroscience, University of Padova, Padova, Italy.; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Instituto de Investigación imas12, Madrid, Spain., Tasca G; UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Weiss C; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Deconinck N; Department of Neurology, Queen Fabiola Children's University Hospital (HUDERF), Free University of Brussels, Brussels, Belgium., Fernández-Torrón R; Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain., López de Munain A; Neurosciences, BioDonostia Health Research Institute, Hospital Donostia, San Sebastián, Spain., Camacho-Salas A; Division of Child Neurology, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Madrid, Spain., Melegh B; Department of Medical Genetics, and Szentagothai Research Center, University of Pécs, School of Medicine, Pécs, Hungary., Hadzsiev K; Department of Medical Genetics, and Szentagothai Research Center, University of Pécs, School of Medicine, Pécs, Hungary., Leonardis L; Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Koritnik B; Institute of Clinical Neurophysiology, University Medical Centre, Department of Neurology, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Garibaldi M; Neuromuscular and Rare Disease Center, Department of Neurosciences, Mental Health and Sensory Organs (NESMOS), SAPIENZA Università di Roma, Rome, Italy., de Leon-Hernández JC; Department of Neurology, Hospital Universitario Nuestra Señora de la Candelaria, Tenerife, Spain., Malfatti E; Department of Neurology, Raymond-Poincaré teaching hospital, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, AP-HP, Garches, France., Fraga-Bau A; Department of Neurology, Álvaro Cunqueiro Hospital, Vigo, Spain., Richard I; Integrare (UMR_S951), Inserm, Généthon, Univ Evry, Université Paris-Saclay, 91002, Evry, France., Illa I; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Department of Neuroscience, University of Padova, Padova, Italy., Díaz-Manera J; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.

Publikováno v: Brain : a journal of neurology [Brain] 2020 Sep 01; Vol. 143 (9), pp. 2696-2708.