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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Beijer, Danique; Dohrn, Maike F; De Winter, Jonathan; Fazal, Sarah; Cortese, Andrea; Stojkovic, Tanya; Fernández-Eulate, Gorka; Remiche, Gauthier; Gentile, Mattia; Van Coster, Rudy; Dufke, Claudia; Synofzik, Matthis; De Jonghe, Peter; Züchner, Stephan; Baets, Jonathan.
Afiliação
  • Beijer D; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • Dohrn MF; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • De Winter J; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Fazal S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Cortese A; Department of Neurology, Medical Faculty RWTH Aachen University, Aachen, Germany.
  • Stojkovic T; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
  • Fernández-Eulate G; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Remiche G; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Gentile M; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, USA.
  • Van Coster R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology, London, UK.
  • Dufke C; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
  • Synofzik M; Reference Center for Neuromuscular Diseases, Neuro-myology Department, Pitié-Salpêtrière University Hospital, APHP, Paris, France.
  • De Jonghe P; Reference Center for Neuromuscular Diseases, Neuro-myology Department, Pitié-Salpêtrière University Hospital, APHP, Paris, France.
  • Züchner S; Neuro-Metabolism Unit, Reference Center for Lysosomal Diseases, Neurology Department, Pitié-Salpêtrière University Hospital, APHP, Paris, France.
  • Baets J; Centre de Référence Neuromusculaire, Department of Neurology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.
Eur J Neurol ; 29(7): 2156-2161, 2022 07.
Article em En | MEDLINE | ID: mdl-35253317
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatias Hereditárias Sensoriais e Autônomas / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neuropatias Hereditárias Sensoriais e Autônomas / Doenças Vestibulares / Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Vestibulopatia Bilateral Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Eur J Neurol Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Bélgica