E. Sommerville

发表

Identifying new genes in mitochondrial disease

E. Sommerville, 2017 .

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

Robert W. Taylor, P. Chinnery, G. Falkous, 2017, Neurology: Genetics.

Dosimetric Response to Gamma-rays and Neutrons of a Tissue-equivalent Microstrip Gas Counter

J. Dubeau, M. Rayner, E. Sommerville, 2000 .

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

Robert W. Taylor, D. Turnbull, H. Prokisch, 2017, JAMA neurology.

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Robert W. Taylor, R. Lightowlers, M. Falkenberg, 2018, Human molecular genetics.

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance

Robert W. Taylor, L. Hedstrom, P. Chinnery, 2019, Clinical genetics.

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

Robert W. Taylor, P. Chinnery, L. Diogo, 2016, JIMD reports.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

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

Robert W. Taylor, D. Turnbull, E. Larsson, 2018, Molecular cell.

Topoisomerase 3 α is required for decatenation and segregation of human mitochondrial DNA

D. Turnbull, E. Larsson, C. Gustafsson, 2017 .

POLRMT mutations impair mitochondrial transcription causing neurological disease

Robert W. Taylor, M. Tarnopolsky, H. Ropers, 2021, Nature Communications.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency

Robert W. Taylor, A. Rötig, N. Hauser, 2019, Genetics in Medicine.

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

H. Smeets, R. Rodenburg, P. Bonnen, 2022, The Journal of clinical investigation.

Retrospective natural history of thymidine kinase 2 deficiency

Robert W. Taylor, S. Dimauro, P. Chinnery, 2018, Journal of Medical Genetics.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Robert W. Taylor, Carol J. Saunders, C. Saunders, 2018, Human molecular genetics.

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Robert W. Taylor, D. Turnbull, P. Chinnery, 2017, Neurology: Genetics.

Adult-onset Mendelian PEO Associated with Mitochondrial Disease.

Robert W. Taylor, P. Chinnery, G. Gorman, 2014, Journal of neuromuscular diseases.