SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

Gama, Maria Thereza Drumond; Houle, Gabrielle; Noreau, Anne; Dionne-Laporte, Alexandre; Dion, Patrick A; Rouleau, Guy A; Barsottini, Orlando G P; Pedroso, José Luiz

Gama, Maria Thereza Drumond; Houle, Gabrielle; Noreau, Anne; Dionne-Laporte, Alexandre; Dion, Patrick A; Rouleau, Guy A; Barsottini, Orlando G P; Pedroso, José Luiz.

Afiliação

Gama MT; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.
Houle G; Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Noreau A; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Dionne-Laporte A; Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Dion PA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Rouleau GA; Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Barsottini OG; Montreal Neurological Institute, Department of Neurology and Neurosurgery, Montréal, Québec, Canada.
Pedroso JL; Division of General Neurology and Ataxia Unit, Department of Neurology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil.

Mov Disord ; 31(11): 1754-1756, 2016 11.

Article em En | MEDLINE | ID: mdl-27671794

Assuntos

Ataxia/genética; Ataxia/fisiopatologia; Proteínas do Tecido Nervoso/genética; Proteínas Nucleares/genética; Adulto; Brasil; Proteínas do Citoesqueleto; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Proteínas Nucleares / Proteínas do Tecido Nervoso Limite: Adult / Female / Humans / Male / Middle aged País/Região como assunto: America do sul / Brasil Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Brasil

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