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An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.
El-Wahsh, Shadi; Fellner, Avi; Hobbs, Matthew; Copty, Joe; Deveson, Ira; Stevanovski, Igor; Stoll, Marion; Zhu, Danqing; Narayanan, Ramesh K; Grosz, Bianca; Worgan, Lisa; Cheong, Pak Leng; Yeow, Dennis; Rudaks, Laura; Hasan, Md Mehedi; Hayes, Vanessa M; Kennerson, Marina; Kumar, Kishore R; Hayes, Michael.
Afiliación
  • El-Wahsh S; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
  • Fellner A; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
  • Hobbs M; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Copty J; The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
  • Deveson I; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Stevanovski I; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Stoll M; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Zhu D; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
  • Narayanan RK; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
  • Grosz B; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
  • Worgan L; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.
  • Cheong PL; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.
  • Yeow D; Clinical Genetics Service, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • Rudaks L; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
  • Hasan MM; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
  • Hayes VM; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Kennerson M; Royal Prince Alfred Hospital, New South Wales Health Pathology, Sydney, New South Wales, Australia.
  • Kumar KR; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia.
  • Hayes M; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
Mov Disord Clin Pract ; 11(5): 582-585, 2024 May.
Article en En | MEDLINE | ID: mdl-38497520
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / GTP Ciclohidrolasa Límite: Adult / Female / Humans / Male Idioma: En Revista: Mov Disord Clin Pract Año: 2024 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Distónicos / GTP Ciclohidrolasa Límite: Adult / Female / Humans / Male Idioma: En Revista: Mov Disord Clin Pract Año: 2024 Tipo del documento: Article País de afiliación: Australia