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A Novel Compound Heterozygous Mutation in Aprataxin Causes Slowly Progressive Ataxia without Oculomotor Apraxia.
Satolli, Sara; De Micco, Rosa; Galatolo, Daniele; Tessa, Alessandra; Cirillo, Mario; Tessitore, Alessandro; Santorelli, Filippo Maria.
Afiliação
  • Satolli S; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • De Micco R; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Galatolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Tessa A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Cirillo M; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Tessitore A; Department of Advanced Medical and Surgical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Santorelli FM; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris, Pisa, Italy.
Mov Disord Clin Pract ; 11(9): 1156-1159, 2024 Sep.
Article em En | MEDLINE | ID: mdl-38881152
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apraxias / Proteínas de Ligação a DNA / Mutação Limite: Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Apraxias / Proteínas de Ligação a DNA / Mutação Limite: Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2024 Tipo de documento: Article