List of works by Lisa G Riley

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

scientific article

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

scientific article published on 07 June 2019

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

scientific article published on 19 November 2019

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

scientific article

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

scientific article published on 10 December 2014

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia

scientific article published on 2 January 2015

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

scientific article

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

scientific article published on August 2013

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

scientific article published on 28 June 2013

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient

scientific article

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

scientific article published on 21 April 2020

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

scientific article published on 22 May 2020

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