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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz, Pedro M; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Wei Liu, Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Conti Reed, Umbertina; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Töpf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline; Beeson, David.
Afiliação
  • Rodríguez Cruz PM; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Cossins J; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford, UK.
  • Estephan EP; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Munell F; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Selby K; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Hirano M; University of British Columbia, Vancouver, British Columbia, Canada.
  • Maroofin R; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Mehrjardi MYV; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.
  • Chow G; Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Carr A; Department of Paediatric Neurology, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham, UK.
  • Manzur A; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, UK.
  • Robb S; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Munot P; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Wei Liu W; Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Banka S; Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Fraser H; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • De Goede C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Zanoteli E; Department of Paediatric Neurology, Royal Preston Hospital, Preston, UK.
  • Conti Reed U; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Sage A; Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil.
  • Gratacos M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, NY, USA.
  • Macaya A; Department of Clinical Neurophysiology, Hospital Universitari Vall d'Hebron, Barcelona Spain.
  • Dusl M; Neuromuscular disorders Group, Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany.
  • Töpf A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital LMU Munich, Munich, Germany.
  • Hofer M; Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, UK.
  • Knight R; Department of Neuropathology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.
  • Ramdas S; Department of Clinical Neurophysiology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.
  • Jayawant S; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.
  • Lochmüller H; Department of Paediatric Neurology, John Radcliffe Hospital NHS Foundation Trust, Oxford, UK.
  • Palace J; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Beeson D; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Brain ; 142(6): 1547-1560, 2019 06 01.
Article em En | MEDLINE | ID: mdl-31081514
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transmissão Sináptica / Síndromes Miastênicas Congênitas / Colágeno Tipo XIII / Proteínas Musculares / Junção Neuromuscular Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transmissão Sináptica / Síndromes Miastênicas Congênitas / Colágeno Tipo XIII / Proteínas Musculares / Junção Neuromuscular Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article