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Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.
Cadieux-Dion, Maxime; Turcotte-Gauthier, Maude; Noreau, Anne; Martin, Caroline; Meloche, Caroline; Gravel, Micheline; Drouin, Christian Allen; Rouleau, Guy A; Nguyen, Dang Khoa; Cossette, Patrick.
Afiliação
  • Cadieux-Dion M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Turcotte-Gauthier M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Noreau A; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Martin C; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Meloche C; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Gravel M; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Drouin CA; Department of Dermatology, Grand Portage Hospital, Rivière du Loup, Quebec, Canada.
  • Rouleau GA; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
  • Nguyen DK; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
  • Cossette P; Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.
JAMA Neurol ; 71(4): 470-5, 2014 Apr.
Article em En | MEDLINE | ID: mdl-24566826
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Proteínas do Olho / Eritroceratodermia Variável / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: JAMA Neurol Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Mutação de Sentido Incorreto / Ataxias Espinocerebelares / Proteínas do Olho / Eritroceratodermia Variável / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: America do norte Idioma: En Revista: JAMA Neurol Ano de publicação: 2014 Tipo de documento: Article