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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Lookup NU author(s): Dr Monika Olahova, Dr Steven Hardy, Dr John Yarham, William Wilson, Dr Charlotte Alston, Dr Langping He, Erik Aznauryan, Dr Andrew Morris, Professor Robert Lightowlers, Professor Bobby McFarlandORCiD, Professor Zofia Chrzanowska-LightowlersORCiD, Professor Robert Taylor



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

Publication metadata

Author(s): Olahova M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AAM, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZMA, Taylor RW

Publication type: Article

Publication status: Published

Journal: Brain

Year: 2015

Volume: 138

Issue: 12

Pages: 3503-3519

Print publication date: 01/12/2015

Online publication date: 28/10/2015

Acceptance date: 11/08/2015

Date deposited: 03/12/2015

ISSN (print): 0006-8950

ISSN (electronic): 1460-2156

Publisher: Oxford University Press


DOI: 10.1093/brain/awv291

PubMed id: 26510951


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Funder referenceFunder name
King's College London
Lily Foundation
UK NHS Highly Specialised "Rare Mitochondrial Disorders of Adults and Children" Service in Newcastle upon Tyne and Oxford
Department of Health via the NIHR comprehensive Biomedical Research Centre
01GM1207E-Rare project GENOMIT
096919/Z/11/ZWellcome Trust
FKZ 01ZX1405CJuniorverbund in der Systemmedizin "mitOmics"
G0601943MRC Centre for Neuromuscular Diseases
NIHR-HCS-D12-03-04NIHR/CSO Healthcare Science Research Fellowship from the National Institute for Health Research
096919/Z/11/ZWellcome Trust