Mohammed A. Saleh

AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder

Naiara Akizu, Vincent Cantagrel, Jana Schroth et al. · Cell · 2013 · 113 citations · Full text

Is Mutated, Neurodegenerative Diseases, Neurophysiology +8

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Wu‐Lin Charng, Ender Karaca, Zeynep Coban‐Akdemir et al. · BMC Medical Genomics · 2016 · 108 citations · Full text

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan et al. · The American Journal of Human Genetics · 2016 · 84 citations · Full text

Facial Dysmorphism, Genetic Disorder, Cause Intellectual Disability +5

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Tamar Harel, Gözde Yeşil, Yavuz Bayram et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Developmental Biology, Mendelian Disorder, Biallelic Variants +9

<i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai et al. · Human Mutation · 2017 · 63 citations · Full text

Genetics, Pathology, Molecular Biology +23