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Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

Lookup NU author(s): Dr Michael Keogh, Dr Hannah Steele, Dr Konstantinos Douroudis, Dr Angela Pyle, Dr Jennifer Duff, Raf Hussain, Tania Smertenko, Dr Helen GriffinORCiD, Dr Mauro Santibanez Koref, Professor Rita HorvathORCiD, Professor Patrick Chinnery


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Publication metadata

Author(s): Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2015

Volume: 262

Issue: 8

Pages: 1822-1827

Print publication date: 01/08/2015

Online publication date: 16/05/2015

Acceptance date: 29/04/2015

Date deposited: 06/07/2015

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Springer


DOI: 10.1007/s00415-015-7772-x


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Funder referenceFunder name
Newcastle University
National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre based at Newcastle upon Tyne Hospitals NHS Foundation Trust
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
309548European Research Council
G0601943Medical Research Council (UK) Centre for Translational Muscle Disease research
G1000848Medical Research Council (UK)