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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
Vissing, John; Johnson, Katherine; Töpf, Ana; Nafissi, Shahriar; Díaz-Manera, Jordi; French, Vanessa M; Schindler, Roland F; Sarathchandra, Padmini; Løkken, Nicoline; Rinné, Susanne; Freund, Max; Decher, Niels; Müller, Thomas; Duno, Morten; Krag, Thomas; Brand, Thomas; Straub, Volker.
Afiliação
  • Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Denmark.
  • Johnson K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Töpf A; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Nafissi S; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
  • Díaz-Manera J; Department of Neurology, Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • French VM; Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital de la Santa Creu i Sant Pau de Barcelona and CIBERER, Madrid, Spain.
  • Schindler RF; Developmental Dynamics, Myocardial Function, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Sarathchandra P; Developmental Dynamics, Myocardial Function, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Løkken N; Heart Science Centre, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
  • Rinné S; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Denmark.
  • Freund M; Institute for Physiology and Pathophysiology, AG Vegetative Physiology, Philipps-University of Marburg, Marburg, Germany.
  • Decher N; Institute for Physiology and Pathophysiology, AG Vegetative Physiology, Philipps-University of Marburg, Marburg, Germany.
  • Müller T; Institute for Physiology and Pathophysiology, AG Vegetative Physiology, Philipps-University of Marburg, Marburg, Germany.
  • Duno M; Institute for Molecular Plant Physiology and Biophysics, Julius-von-Sachs Platz 2, 97082, Würzburg, Germany.
  • Krag T; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Denmark.
  • Brand T; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Denmark.
  • Straub V; Developmental Dynamics, Myocardial Function, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Ann Neurol ; 86(6): 832-843, 2019 12.
Article em En | MEDLINE | ID: mdl-31610034
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Moléculas de Adesão Celular / Músculo Esquelético / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Moléculas de Adesão Celular / Músculo Esquelético / Distrofia Muscular do Cíngulo dos Membros / Proteínas Musculares Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: Ann Neurol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Estados Unidos