Ewen W. Sommerville
Newcastle Upon Tyne, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
Journal: The Journal of clinical investigation
Published: November 04, 2020
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Journal: Nature communications
Published: May 13, 2020
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance.
Journal: Clinical genetics
Published: August 16, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 09, 2019
Characterization of the BspA and Pmp protein family of trichomonads.
Journal: Parasites & vectors
Published: April 02, 2019
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Journal: Human molecular genetics
Published: June 12, 2018
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Journal: Human molecular genetics
Published: December 04, 2017
Retrospective natural history of thymidine kinase 2 deficiency.
Journal: Journal of medical genetics
Published: October 03, 2017
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.
Journal: Molecular cell
Published: June 21, 2017
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.
Journal: Neurology. Genetics
Published: June 08, 2017
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.
Journal: Neurology. Genetics
Published: May 19, 2017
Last Updated: 09/26/2026