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Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Lookup NU author(s): Dr Charlotte Alston, Dr Monika Olahova, Dr John Yarham, Dr Langping He, Professor Robert Taylor



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

Publication metadata

Author(s): Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Vancoster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2016

Volume: 99

Issue: 1

Pages: 217-227

Print publication date: 07/07/2016

Online publication date: 30/06/2016

Acceptance date: 18/05/2016

Date deposited: 24/08/2016

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1016/j.ajhg.2016.05.021

PubMed id: 27374774


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Funder referenceFunder name
Association Belge contre les Maladies Neuro-Musculaires
Lily Foundation
UK National Health Service Highly Specialised "Rare Mitochondrial Disorders of Adults and Children" service
Victorian Government's Operational Infrastructure Support Program
01GM1113BBMBF through the German Network for Mitochondrial Disorders
01GM1113CBMBF through the German Network for Mitochondrial Disorders
01GM1207E-Rare project GENOMIT
096919/Z/11/ZWellcome Trust Strategic Award
1102896Australian National Health and Medical Research Council (NHMRC)
1102971Australian National Health and Medical Research Council (NHMRC)
317433European Commission FP7-PEOPLE-ITN MEET Project (GA)
3G020010Belgian Fund for Scientific Research
BOF 01DI2714Ghent University
E-12/15/076-MAYParacelsus Medical University
FKZ 01ZX1405CFederal Ministry of Education and Research (BMBF) through the Juniorverbund in der Systemmedizin "mitOmics"
G.0.200Fonds voor Wetenschappelijk Onderzoek
G0601943MRC Centre for Neuromuscular Diseases
NIHR-HCS-D12-03-04National Institute for Health Research (NIHR)
S136/13Children's Memorial Health Institute
SFB 815/Z1Deutsche Forschungsgemeinschaft