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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.
Reumers, Stacha F I; Braun, Frederik; Spillane, Jennifer E; Böhm, Johann; Pennings, Maartje; Schouten, Meyke; van der Kooi, Anneke J; Foley, A Reghan; Bönnemann, Carsten G; Kamsteeg, Erik-Jan; Erasmus, Corrie E; Schara-Schmidt, Ulrike; Jungbluth, Heinz; Voermans, Nicol C.
Afiliação
  • Reumers SFI; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Braun F; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Spillane JE; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Böhm J; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Pennings M; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Schouten M; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • van der Kooi AJ; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Foley AR; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Bönnemann CG; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Kamsteeg EJ; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Erasmus CE; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Schara-Schmidt U; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Jungbluth H; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
  • Voermans NC; From the Department of Neurology (S.F.I.R., N.C.V.), Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics (M.P., E.-j.K.), and Department of Clinical Genetics (M.S.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatric Neurology and Neu
Neurology ; 97(5): e501-e512, 2021 08 03.
Article em En | MEDLINE | ID: mdl-34011573
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Heterozigoto Tipo de estudo: Etiology_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Heterozigoto Tipo de estudo: Etiology_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article