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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

Lookup NU author(s): Dr Kyle Thompson, Dr Monika Olahova, Dr Filippo Scialo, Dr Nichola Lax, Dr Fiona Robertson, Dr Steven Hardy, Dr Langping He, Professor Bobby McFarlandORCiD, Professor Alberto Sanz Montero, Emerita Professor Zofia Chrzanowska-LightowlersORCiD, Emeritus Professor Robert Lightowlers, Professor Robert TaylorORCiD

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


Publication metadata

Author(s): Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Taylor RW

Publication type: Article

Publication status: Published

Journal: EMBO Molecular Medicine

Year: 2018

Volume: 10

Issue: 9

Print publication date: 01/09/2018

Online publication date: 10/09/2018

Acceptance date: 14/08/2018

Date deposited: 10/09/2018

ISSN (print): 1757-4676

ISSN (electronic): 1757-4684

Publisher: Wiley-Blackwell Publishing Ltd.

URL: https://doi.org/10.15252/emmm.201809060

DOI: 10.15252/emmm.201809060


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Funding

Funder referenceFunder name
1125390
1140851
1140906
203105/Z/16/ZWellcome Trust
1107094
Australian Mitochondria Disease Foundation
BB/M023311/1Biotechnology and Biological Sciences Research Council (BBSRC)
Barbour Foundation
CP09/00011
G0800674
Lily Foundation
Medical Research Council for Translational Research in Neuromuscular Disease
NIHR Biomedical Research Centre for Ageing and Age-related disease award
R01NS083726
UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children

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