Ahmad Alahmad
Dr Angela Pyle
Professor Bobby McFarland
Professor Robert Taylor
| Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement | 2022 |
|
Ahmad Alahmad
Professor Robert Taylor
Professor Bobby McFarland
| Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency | 2022 |
|
Ahmad Alahmad
Dr Kyle Thompson
Dr Monika Olahova
Dr Langping He
Dr Charlotte Alston
et al. | Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I | 2020 |
|
Ahmad Alahmad
Haya AL-Balool
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
et al. | Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing | 2019 |
|
Dr Kyle Thompson
Ahmad Alahmad
Dr Langping He
Professor Robert Taylor
| Expanding the clinical phenotype of IARS2-related mitochondrial disease | 2018 |
|
