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Exome sequencing in undiagnosed inherited and sporadic ataxias

Lookup NU author(s): Dr Angela Pyle, Tania Smertenko, Dr David Bargiela, Dr Helen GriffinORCiD, Dr Jennifer Duff, Marie Appleton, Dr Konstantinos Douroudis, Dr Gerald Pfeffer, Dr Mauro Santibanez Koref, Gail Eglon, Dr Patrick Yu Wai Man, Dr Vankateswara Ramesh, Professor Rita HorvathORCiD, Professor Patrick Chinnery



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2015

Volume: 138

Issue: 2

Pages: 276-283

Print publication date: 01/02/2015

Online publication date: 13/12/2014

Acceptance date: 13/10/2014

Date deposited: 29/06/2015

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/awu348

PubMed id: 25497598


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Funder referenceFunder name
Bisby Fellowship from the Canadian Institutes of Health Research
National Institute for Health Research (NIHR)
Newcastle NIHR Biomedical Research Centre
Newcastle University
European Research Council
MRC Clinician Scientist Fellowship
National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre based at Newcastle upon Tyne Hospitals NHS Foundation Trust
Wellcome 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)
101876/Z/13/ZWellcome Trust