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Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn, Martin; Tomschik, Matthias; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Rath, Jakob; Klotz, Sigrid; Gelpi, Ellen; Bsteh, Gabriel; Keritam, Omar; Colonna, Isabella; Paternostro, Chiara; Jäger, Fiona; Lindeck-Pozza, Elisabeth; Iglseder, Stephan; Grinzinger, Susanne; Schönfelder, Martina; Hohenwarter, Christina; Freimüller, Manfred; Embacher, Norbert; Wanschitz, Julia; Topakian, Raffi; Töpf, Ana; Straub, Volker; Quasthoff, Stefan; Zimprich, Fritz; Löscher, Wolfgang N; Cetin, Hakan.
Afiliação
  • Krenn M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Tomschik M; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Wagner M; Institute of Human Genetics, Technical University Munich, Munich, Germany.
  • Zulehner G; Institute for Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.
  • Weng R; LMU University Hospital, Department of Pediatrics, Dr. von Hauner Children's Hospital, Division of Pediatric Neurology, LMU Center for Development and Children with Medical Complexity, Ludwig-Maximilians-University, Munich, Germany.
  • Rath J; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Klotz S; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Gelpi E; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Bsteh G; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Keritam O; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Colonna I; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Paternostro C; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Jäger F; Department of Neurology, Medical University of Graz, Graz, Austria.
  • Lindeck-Pozza E; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Iglseder S; Department of Neurology, Medical University of Vienna, Vienna, Austria.
  • Grinzinger S; Department of Neurology, Klinik Favoriten, Vienna, Austria.
  • Schönfelder M; Department of Neurology, KH der Barmherzigen Brüder, Linz, Austria.
  • Hohenwarter C; Department of Neurology, Paracelsus Medical University of Salzburg, Salzburg, Austria.
  • Freimüller M; Department of Neurology, Klinikum Klagenfurt am Wörthersee, Klagenfurt, Austria.
  • Embacher N; Department of Neurorehabilitation, Gailtal-Klinik, Hermagor, Austria.
  • Wanschitz J; Department of Neurorehabilitation, Gailtal-Klinik, Hermagor, Austria.
  • Topakian R; Department of Neurology, University Hospital St. Pölten, St. Pölten, Austria.
  • Töpf A; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
  • Straub V; Department of Neurology, Klinikum Wels-Grieskirchen, Wels, Austria.
  • Quasthoff S; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Zimprich F; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Löscher WN; Department of Neurology, Medical University of Graz, Graz, Austria.
  • Cetin H; Department of Neurology, Medical University of Vienna, Vienna, Austria.
Eur J Neurol ; 29(6): 1815-1824, 2022 06.
Article em En | MEDLINE | ID: mdl-35239206
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Doenças Musculares Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros / Doenças Musculares Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Áustria