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RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck, M; van Engelen, B G M; Küsters, B; Lammens, M; Meijer, R; Molenaar, J P F; Raaphorst, J; Verschuuren-Bemelmans, C C; Straathof, C S M; Sie, L T L; de Coo, I F; van der Pol, W L; de Visser, M; Scheffer, H; Treves, S; Jungbluth, H; Voermans, N C; Kamsteeg, E-J.
Afiliação
  • Snoeck M; National MH Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.
  • van Engelen BG; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Küsters B; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Lammens M; Department of Pathology, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Meijer R; Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Molenaar JP; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.
  • Raaphorst J; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Verschuuren-Bemelmans CC; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Straathof CS; Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Sie LT; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
  • de Coo IF; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van der Pol WL; Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands.
  • de Visser M; Department of Neuropediatrics, Juliana Children's Hospital/Haga Hospital, The Hague, Nijmegen, The Netherlands.
  • Scheffer H; Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
  • Treves S; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Jungbluth H; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
  • Voermans NC; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Kamsteeg EJ; Departments of Anesthesia and Biomedicine, University Hospital Basel, Basel, Switzerland.
Eur J Neurol ; 22(7): 1094-112, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25960145

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Liberação de Cálcio do Receptor de Rianodina / Hipertermia Maligna / Doenças Musculares Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canal de Liberação de Cálcio do Receptor de Rianodina / Hipertermia Maligna / Doenças Musculares Tipo de estudo: Observational_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda