Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Ewen W Sommerville

1-10 of 10 results

View this query on the Wikidata Query Service
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

scientific article published on 14 December 2017
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

scientific article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

scientific article published on 10 April 2017
Retrospective natural history of thymidine kinase 2 deficiency

scientific article
Adult-onset Mendelian PEO Associated with Mitochondrial Disease

scientific article published on January 2014
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

article
De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

scientific article published on 22 September 2017
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019
Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

scientific article published on 15 December 2017

Paulina is supported by:

About Paulina

Help