Toggle Main Menu Toggle Search

Open Access padlockePrints

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Lookup NU author(s): Dr Monika Olahova, Dr Kyle Thompson, Dr Steven Hardy, Maria-Eleni Anagnostou, Dr Kathryn White, Tracey DaveyORCiD, Professor Robert Lightowlers, Professor Zofia Chrzanowska-LightowlersORCiD, Professor Bobby McFarlandORCiD, Professor Robert Taylor



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

Publication metadata

Author(s): Oláhová M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZMA, McFarland R, Deshpande C, Bonnen PE, Taylor RW

Publication type: Article

Publication status: Published

Journal: Journal of Inherited Metabolic Disease

Year: 2017

Volume: 40

Issue: 1

Pages: 121-130

Print publication date: 01/01/2017

Online publication date: 30/09/2016

Acceptance date: 06/09/2016

Date deposited: 20/01/2017

ISSN (print): 0141-8955

ISSN (electronic): 1573-2665

Publisher: Springer Netherlands


DOI: 10.1007/s10545-016-9977-2


Altmetrics provided by Altmetric


Funder referenceFunder name
Department of Health via the NIHR comprehensive Biomedical Research Centre
King's College London
UK NHS Highly Specialised "Rare Mitochondrial Disorders of Adults and Children" Service in Newcastle upon Tyne
Lily Foundation
096919/Z/11/ZWellcome Trust Strategic Award
BB/M012093/1Biotechnology and Biological Sciences Research Council
G0601943MRC Centre for Neuromuscular Diseases
R01NS08372National Institute of Neurological Disorders and Stroke of the National Institutes of Health