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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez, Jorge; González-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andrés; Ortez, Carlos; Comi, Giacomo Pietro; Dam, Leroy Ten; De Visser, Marianne; van der Kooi, A J; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuß, Andrea; Løkken, Nicoline; Storgaard, Jesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Claeys, Kristl G; Gomez-Andrés, David; Munell, Francina; Costa-Comellas, Laura; Haberlová, Jana; Rohlenová, Marie; Elke, De Vos; De Bleecker, Jan L; Dominguez-González, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernández-Torrón, Roberto; López de Munain, Adolfo; Camacho-Salas, Ana; Melegh, Béla.
Afiliação
  • 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.
  • Bello L; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
  • Guglieri M; Department of Neuroscience, University of Padova, Padova, Italy.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
  • Gallano P; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK.
  • Semplicini C; U705 CIBERER, Genetics Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain.
  • Pegoraro E; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
  • Zangaro V; Department of Neuroscience, University of Padova, Padova, Italy.
  • Nascimento A; Department of Neuroscience, University of Padova, Padova, Italy.
  • Ortez C; Department of Neuroscience, University of Padova, Padova, Italy.
  • Comi GP; Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain.
  • Dam LT; Neuromuscular Disorder Unit, Hospital Sant Joan de Deu, Barcelona, Spain.
  • De Visser M; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
  • van der Kooi AJ; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Garrido C; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Santos M; Department of Neurology, Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Schara U; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Gangfuß A; Neuropediatric Department, Centro Hospitalar do Porto, Porto, Portugal.
  • Løkken N; Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany.
  • Storgaard JH; Neuromuscular Centre for Children and Adolescents, Department of Paediatric Neurology, University Hospital Essen, Essen, Germany.
  • Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
  • Schoser B; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
  • Dekomien G; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet and University of Copenhagen, Copenhagen, Denmark.
  • Udd B; Friedrich-Baur-Institute, Department of Neurology Klinikum München Ludwig-Maximilians-University Munich, Munich, Germany.
  • Palmio J; Department of Human Genetics, Ruhr-University Bochum, Germany.
  • D'Amico A; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.
  • Politano L; Neuromuscular Research Center, University of Tampere and Tampere University Hospital, Tampere, Finland.
  • Nigro V; Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Bruno C; Cardiomiology and Medical Genetics, Department of Experimental Medicine, University of Campania, Naples, Italy.
  • Panicucci C; Department of Precision Medicine - University of Campania, Naples, Italy.
  • Sarkozy A; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Abdel-Mannan O; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
  • Alonso-Jimenez A; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Claeys KG; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Gomez-Andrés D; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Munell F; Department of Neurology, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
  • Costa-Comellas L; Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
  • Haberlová J; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.
  • Rohlenová M; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.
  • Elke V; Paediatric Neuromuscular disorders Unit, Pediatric Neurology, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.
  • De Bleecker JL; Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic.
  • Dominguez-González C; Department of Child Neurology, Charles University, 2nd Medical School, University Hospital Motol, Prague, Czech Republic.
  • Tasca G; Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium.
  • Weiss C; Department of Neurology, Ghent University and University Hospital Ghent, Ghent, Belgium.
  • Deconinck N; Department of Neuroscience, University of Padova, Padova, Italy.
  • Fernández-Torrón R; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Instituto de Investigación imas12, Madrid, Spain.
  • López de Munain A; UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Camacho-Salas A; Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Melegh B; Department of Neurology, Queen Fabiola Children's University Hospital (HUDERF), Free University of Brussels, Brussels, Belgium.
Brain ; 143(9): 2696-2708, 2020 09 01.
Article em En | MEDLINE | ID: mdl-32875335
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2020 Tipo de documento: Article