Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors-Reference-Cited by-同舟云学术

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

Published:2018-02-07 Issue:3 Volume:5 Page:333-345
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Pickett Sarah J.¹^ORCID,Grady John P.¹,Ng Yi Shiau¹,Gorman Gráinne S.¹,Schaefer Andrew M.¹,Wilson Ian J.²,Cordell Heather J.²,Turnbull Doug M.¹,Taylor Robert W.¹,McFarland Robert¹

Affiliation:

1. Wellcome Centre for Mitochondrial Research; Institute of Neuroscience; Newcastle University; Newcastle upon Tyne UK

2. Institute of Genetic Medicine; Newcastle University; Newcastle upon Tyne UK

Funder

Wellcome Trust

Mitochondrial Research Guild

Medical Research Council

Lily Foundation

National Institute on Handicapped Research

Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust

UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Reference51 articles.

1. The genetics and pathology of mitochondrial disease;Alston;J Pathol,2017

2. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins;Calvo;Nucleic Acids Res,2016

3. Mitochondrial diseases;Gorman;Nat Rev Dis Primers,2016

4. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies;Goto;Nature,1990

5. Pathogenic mitochondrial DNA mutations are common in the general population;Elliott;Am J Hum Genet,2008

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