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RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.
Benkirane, Mehdi; Da Cunha, Dylan; Marelli, Cecilia; Larrieu, Lise; Renaud, Mathilde; Varilh, Jessica; Pointaux, Morgane; Baux, David; Ardouin, Olivier; Vangoethem, Charles; Taulan, Magali; Daumas Duport, Benjamin; Bergougnoux, Anne; Corbillé, Anne-Gaelle; Cossée, Mireille; Juntas Morales, Raul; Tuffery-Giraud, Sylvie; Koenig, Michel; Isidor, Bertrand; Vincent, Marie-Claire.
Afiliação
  • Benkirane M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Da Cunha D; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Marelli C; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Larrieu L; Department of Neurology, Montpellier Hospital, Montpellier, France.
  • Renaud M; Molecular Mechanisms of Neurodegenerative Dementia (MMDN), EPHE University of Montpellier, INSERM, Montpellier, France.
  • Varilh J; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Pointaux M; Department of Medical Genetics, Nancy Hospital, Nancy, France.
  • Baux D; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Ardouin O; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Vangoethem C; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Taulan M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Daumas Duport B; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Bergougnoux A; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Corbillé AG; Department of Radiology, Nantes Hospital, Nantes, France.
  • Cossée M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Juntas Morales R; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Tuffery-Giraud S; Department of Neurology, Nantes Hospital, Nantes, France.
  • Koenig M; Department of Molecular Genetics, Institut Universitaire de Recherche Clinique (IURC), Montpellier Hospital, Montpellier, France.
  • Isidor B; Genetics and Pathophysiology of NeuroMuscular Disorders, PhyMedExp Research Unit, CNRS, INSERM, University of Montpellier, Montpellier, France.
  • Vincent MC; Department of Neurology, Montpellier Hospital, Montpellier, France.
Brain ; 145(11): 3770-3775, 2022 11 21.
Article em En | MEDLINE | ID: mdl-35883251
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Proteína de Replicação C / Vestibulopatia Bilateral Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Doenças do Sistema Nervoso Periférico / Proteína de Replicação C / Vestibulopatia Bilateral Limite: Humans Idioma: En Revista: Brain Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França