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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz, Vicente; Planas-Serra, Laura; Sveden, Abigail; Tam, Amy; Kim, Hyo-Min; Zubair, Umar; Resch, Dario; Saffari, Afshin; Danzi, Matt C; Züchner, Stephan; Chopra, Maya; Schierbaum, Luca; Pujol, Aurora; Eklund, Erik A; Ebrahimi-Fakhari, Darius.
Afiliação
  • Quiroz V; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Planas-Serra L; Neurometabolic Diseases, IDIBELL, Barcelona, Spain.
  • Sveden A; CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
  • Tam A; RSZ Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Kim HM; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Zubair U; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Resch D; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Saffari A; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Danzi MC; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Züchner S; Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
  • Chopra M; Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
  • Schierbaum L; RSZ Translational Neuroscience Center, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Pujol A; Movement Disorders Program, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Eklund EA; Neurometabolic Diseases, IDIBELL, Barcelona, Spain.
  • Ebrahimi-Fakhari D; CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
J Clin Invest ; 134(17)2024 Jul 11.
Article em En | MEDLINE | ID: mdl-38990652
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Limite: Child, preschool / Female / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Limite: Child, preschool / Female / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos