Robert W Taylor
Affiliation: University of Newcastle
Lim A, Blakely E, Baty K, He L, Hopton S, Falkous G, et al
. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes. Mitochondrion. 2019;: pubmed publisher
Alston C, Heidler J, Dibley M, Kremer L, Taylor L, Fratter C, et al
. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet. 2018;103:592-601 pubmed publisher
Thompson K, Mai N, Oláhová M, Scialò F, Formosa L, Stroud D, et al
. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med. 2018;10: pubmed publisher
..Our data verify the pathogenicity of these OXA1L variants and demonstrate that OXA1L is required for the assembly of multiple respiratory chain complexes. ..
Oliveira R, Sommerville E, Thompson K, Nunes J, Pyle A, Grazina M, et al
. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. JIMD Rep. 2017;33:61-68 pubmed publisher
..We further outline the unique phenotypic spectrum of LTBL and review the neuroradiological features reported in all patients documented in the literature. ..
Ng Y, Hardy S, Shrier V, Quaghebeur G, Mole D, Daniels M, et al
. Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. Neuromuscul Disord. 2016;26:702-705 pubmed publisher
..Interestingly, we documented an increase in the mutant mtDNA heteroplasmy level in her second biopsy (72% compared to 56%), reflecting the progression of clinical disease. ..
Oláhová M, Hardy S, Hall J, Yarham J, Haack T, Wilson W, et al
. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015;138:3503-19 pubmed publisher
Metodiev M, Thompson K, Alston C, Morris A, He L, Assouline Z, et al
. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. Am J Hum Genet. 2016;98:993-1000 pubmed publisher
Thompson K, Majd H, Dallabona C, Reinson K, King M, Alston C, et al
. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016;99:860-876 pubmed publisher
Glasgow R, Thompson K, Barbosa I, He L, Alston C, Deshpande C, et al
. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics. 2017;18:227-235 pubmed publisher
..These data demonstrate the effects of defective mtEFG2 function, caused by previously unreported variants, confirming pathogenicity and expanding the clinical phenotypes associated with GFM2 variants. ..