Publications by Ahmad Alahmad - ePrints

Newcastle Authors	Title	Year
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