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Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
Verdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schlüter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agustí; Macaya, Alfons; Becker, Hubert Dominique; Pujol, Aurora.
Afiliação
  • Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Senger B; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Raspall-Chaure M; Université de Strasbourg 1, Strasbourg, France.
  • Schlüter A; Pediatric Neurology Research Group, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, 08035, Barcelona, Catalonia, Spain.
  • Launay N; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035, Barcelona, Catalonia, Spain.
  • Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Casasnovas C; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Rodriguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Macaya A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Becker HD; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.
  • Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
J Med Genet ; 59(12): 1227-1233, 2022 12.
Article em En | MEDLINE | ID: mdl-36041817
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina-tRNA Ligase / Aminoacil-tRNA Sintetases / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina-tRNA Ligase / Aminoacil-tRNA Sintetases / Deficiência Intelectual / Microcefalia Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article