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Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Nishide, Masahiro; Le Marquand, Kathleen; Davis, Mark R; Halmágyi, Gábor M; Fellner, Avi; Narayanan, Ramesh K; Kennerson, Marina L; Reddel, Stephen W; Worgan, Lisa; Panegyres, Peter K; Kumar, Kishore R.
Afiliación
  • Nishide M; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia.
  • Le Marquand K; Clinical Genetics Service, Royal Prince Alfred Hospital, Camperdown, NSW, 2050, Australia.
  • Davis MR; Department of Diagnostic Genomics, Path West Laboratory Medicine, QEII Medical Centre, Hospital Avenue, Nedlands, WA, Australia.
  • Halmágyi GM; Neurology Department, Royal Prince Alfred Hospital, Camperdown and the University of Sydney, Sydney, NSW, 2050, Australia.
  • Fellner A; Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.
  • Narayanan RK; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, 4941492, Petah Tikva, Israel.
  • Kennerson ML; Department of Neurology, Rabin Medical Center, Beilinson Hospital, 4941492, Petah Tikva, Israel.
  • Reddel SW; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia.
  • Worgan L; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, 2139, Australia.
  • Panegyres PK; Sydney Medical School, University of Sydney, Camperdown, NSW, 2050, Australia.
  • Kumar KR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, NSW, 2139, Australia.
Cerebellum ; 23(1): 268-277, 2024 Feb.
Article en En | MEDLINE | ID: mdl-36696030
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Cutáneas Genéticas / Ataxia Cerebelosa / Ataxias Espinocerebelosas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article