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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, Professor Zofia Chrzanowska-LightowlersORCiD, Professor Robert Lightowlers, Professor Robert Taylor

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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
1107094
1125390
1140851
1140906
203105/Z/16/ZWellcome Trust
Barbour Foundation
Australian Mitochondria Disease Foundation
BB/M023311/1Biotechnology and Biological Sciences Research Council (BBSRC)
CP09/00011
Lily Foundation
Medical Research Council for Translational Research in Neuromuscular Disease
G0800674
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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