Your browser doesn't support javascript.
loading
Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review.
Casas-Alba, Dídac; López-Sala, Laura; Pérez-Ordóñez, Marta; Mari-Vico, Rosanna; Bolasell, Mercè; Martínez-Monseny, Antonio F; Muchart, Jordi; Fernández-Fernández, José M; Martorell, Loreto; Serrano, Mercedes.
Afiliação
  • Casas-Alba D; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.
  • López-Sala L; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Pérez-Ordóñez M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Mari-Vico R; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Bolasell M; Department of Pediatric Neurology and Early Stimulation Unit, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Martínez-Monseny AF; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Muchart J; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Fernández-Fernández JM; Department of Radiology, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Martorell L; Department de Ciències Experimentals i de la Salut, Laboratori de Fisiologia Molecular, Universitat Pompeu Fabra, Barcelona, Spain.
  • Serrano M; Department of Genetic and Molecular Medicine IPER, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
Am J Med Genet A ; 185(1): 256-260, 2021 01.
Article em En | MEDLINE | ID: mdl-33098379
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Canais de Cálcio Tipo T / Epilepsia / Hipotonia Muscular Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxias Espinocerebelares / Canais de Cálcio Tipo T / Epilepsia / Hipotonia Muscular Idioma: En Ano de publicação: 2021 Tipo de documento: Article