Journal article

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

Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Olahova, Tobias B Haack, Joel Smet, Katrien Stouffs, Peter Diakumis, Elzbieta Ciara, David Cassiman, Nadine Romain, John W Yarham, Langping He, Boel De Paepe, Arnaud V Vanlander, Sara Seneca, Rene G Feichtinger, Rafal Poski, Dariusz Rokicki Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2016

Grants

Awarded by National Institute for Health Research (NIHR)


Awarded by Federal Ministry of Education and Research (BMBF) through the Juniorverbund in der Systemmedizin "mitOmics"


Awarded by Ghent University


Awarded by Belgian Fund for Scientific Research


Awarded by Fonds voor Wetenschappelijk Onderzoek


Awarded by Children's Memorial Health Institute


Awarded by NIH


Awarded by Paracelsus Medical University


Awarded by European Commission FP7-PEOPLE-ITN MEET Project (GA)


Awarded by BMBF through the German Network for Mitochondrial Disorders


Awarded by E-Rare project GENOMIT


Awarded by Deutsche Forschungsgemeinschaft


Awarded by Australian National Health and Medical Research Council (NHMRC)


Awarded by NHMRC


Awarded by Wellcome Trust Strategic Award


Awarded by MRC Centre for Neuromuscular Diseases


Awarded by Medical Research Council


Awarded by National Institute for Health Research


Funding Acknowledgements

This work was supported by a National Institute for Health Research (NIHR) doctoral fellowship (NIHR-HCS-D12-03-04 to C.L.A.), the Federal Ministry of Education and Research (BMBF) through the Juniorverbund in der Systemmedizin "mitOmics" (FKZ 01ZX1405C to T.B.H.), Ghent University (BOF 01DI2714 to A.V.V.), the Belgian Fund for Scientific Research (3G020010 to J.S., B.D.P., and R.V.C.), the Association Belge contre les Maladies Neuro-Musculaires and Fonds voor Wetenschappelijk Onderzoek G.0.200 (to S.S.), the Children's Memorial Health Institute (S136/13 to E.P.), the NIH (RO1-ARO50597 to R.G.H.), Paracelsus Medical University (E-12/15/076-MAY to J.A.M.), the European Commission FP7-PEOPLE-ITN MEET Project (GA no. 317433 to H.P.), the BMBF through the German Network for Mitochondrial Disorders (01GM1113C to H.P. and 01GM1113B to I.W.), the E-Rare project GENOMIT (01GM1207 to H.P.), the Deutsche Forschungsgemeinschaft (SFB 815/Z1 to I.W.), Australian National Health and Medical Research Council (NHMRC) Principal and Senior Research Fellowships (1102896 to D.R.T. and 1102971 to M.B.), NHMRC grants (1054618 to M.B., 1068409 to D.R.T. and A.G.C., and 1068056 to M.T.R.), the Victorian Government's Operational Infrastructure Support Program (D.R.T., A.G.C., and M.B.), a Wellcome Trust Strategic Award (096919/Z/11/Z to R.W.T.), the MRC Centre for Neuromuscular Diseases (G0601943 to R.W.T.), the UK National Health Service Highly Specialised "Rare Mitochondrial Disorders of Adults and Children" service (to R.W.T.), and the Lily Foundation (to R.W.T.). The views expressed are those of the authors and not necessarily of the NHS, NIHR, or the Department of Health.