Publication & Citation Trends
Publications
82 total
Late-onset multiple-acyl-CoA-dehydrogenase deficiency-like condition: a case series from the West of Scotland.
Cited by 6
Semantic Scholar
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Cited by 6
Semantic Scholar
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype OA
Cited by 1
Semantic Scholar
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Cited by 7
Semantic Scholar
COA5 has an essential role in the early stage of mitochondrial complex IV assembly OA
Cited by 3
Semantic Scholar
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease. OA
Cited by 7
Semantic Scholar
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54 OA
Cited by 5
Semantic Scholar
Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease
Cited by 9
Semantic Scholar
Metabolic effects of bezafibrate in mitochondrial disease OA
Cited by 67
Semantic Scholar
Research Topics
Mitochondrial Function and Pathology
(67)
Metabolism and Genetic Disorders
(52)
ATP Synthase and ATPases Research
(31)
RNA modifications and cancer
(21)
RNA and protein synthesis mechanisms
(7)
Affiliations
National Health Service
University of Helsinki
Radboud University Nijmegen
Inserm
University of Sussex