Ahmad Alahmad

Mutations in <i>ELAC2</i> associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Makenzie Saoura, Christopher A. Powell, Robert Kopajtich et al. · Human Mutation · 2019 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Barbara Vona, Reza Maroofian, Emanuele Bellacchio et al. · BMC Medical Genetics · 2018 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Ahmad Alahmad, Alessia Nasca, Juliana Heidler et al. · EMBO Molecular Medicine · 2020 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

Rauan Kaiyrzhanov, Sami E.M. Mohammed, Reza Maroofian et al. · The American Journal of Human Genetics · 2022 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification and characterization of novel <scp><i>MPC1</i></scp> gene variants causing mitochondrial pyruvate carrier deficiency

Huafang Jiang, Ahmad Alahmad, Song Fu et al. · Journal of Inherited Metabolic Disease · 2021 · 16 citations

Life Sciences, Genetics, Molecular Genetics +12