An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa-Responsive Dystonia.

Autor: El-Wahsh S; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Fellner A; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; The Neurogenetics Clinic, Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel., Hobbs M; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Copty J; Garvan Institute of Medical Research, Sydney, New South Wales, Australia., 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; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Zhu D; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia., Narayanan RK; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia., Grosz B; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia., Worgan L; Clinical Genetics Service, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.; Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Cheong PL; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; Royal Prince Alfred Hospital, New South Wales Health Pathology, Sydney, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia., Yeow D; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; Neuroscience Research Australia, Sydney, New South Wales, Australia., Rudaks L; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia., Hasan MM; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Hayes VM; Ancestry and Health Genomics Laboratory, Charles Perkins Centre, School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.; School of Health Systems & Public Health, University of Pretoria, Pretoria, South Africa.; Manchester Cancer Research Centre, University of Manchester, Manchester, UK., Kennerson M; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute-Sydney Local Health District, Concord, New South Wales, Australia.; Institute of Precision Medicine and Bioinformatics, Sydney Local Health District, Sydney, New South Wales, Australia., Kumar KR; Neurology Department, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Concord Clinical School, Sydney Medical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.; 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.
Jazyk: angličtina
Zdroj: Movement disorders clinical practice [Mov Disord Clin Pract] 2024 May; Vol. 11 (5), pp. 582-585. Date of Electronic Publication: 2024 Mar 18.
DOI: 10.1002/mdc3.14023
Databáze: MEDLINE