BMJ Neurology Open (Aug 2024)
6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing
- Michel Tchan,
- Michael Hayes,
- Lisa Worgan,
- Kate Ahmad,
- Victor SC Fung,
- Kishore R Kumar,
- Karl Ng,
- Laura I Rudaks,
- Marina L Kennerson,
- Dennis Yeow,
- Sanjog Chintalaphani,
- Igor Stevanovski,
- Andre LM Reis,
- Pak L Cheong,
- Ira Deveson
Affiliations
- Michel Tchan
- 4The University of Sydney, Sydney, NSW, Australia
- Michael Hayes
- Mater Hospital, Brisbane, QLD, Australia
- Lisa Worgan
- 2Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia
- Kate Ahmad
- 1Royal North Shore Hospital, St Leonards, NSW, Australia
- Victor SC Fung
- 3Neurology Department, Westmead Hospital, Westmead, NSW, Australia
- Kishore R Kumar
- 5Medical School, University of New South Wales, Randwick, NSW, Australia
- Karl Ng
- 10Neurology Department, Royal North Shore Hospital, Sydney, NSW, Australia
- Laura I Rudaks
- 1Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Sydney, NSW, Australia
- Marina L Kennerson
- 13The Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney Local Health District, Sydney, NSW, Australia
- Dennis Yeow
- 5Neurodegenerative Service, Prince of Wales Hospital, Sydney, NSW, Australia
- Sanjog Chintalaphani
- 4Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, NSW, Australia
- Igor Stevanovski
- 4Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, NSW, Australia
- Andre LM Reis
- 4Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, NSW, Australia
- Pak L Cheong
- 2Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia
- Ira Deveson
- 4Genomics and Inherited Disease Program, The Garvan Institute of Medical Research, Sydney, NSW, Australia
- DOI
- https://doi.org/10.1136/bmjno-2024-ANZAN.6
- Journal volume & issue
-
Vol. 6,
no. Suppl 1
Abstract
No abstracts available.