Nadirah Damseh

Mutations in <i>SLC1A4</i>, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Nadirah Damseh, Alexandre Simonin, Chaim Jalas et al. · Journal of Medical Genetics · 2015 · 82 citations

Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability

Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen et al. · Journal of Medical Genetics · 2016 · 48 citations

A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration

Nadirah Damseh, Chris M. Danson, Motee Al-Ashhab et al. · Neurogenetics · 2015 · 45 citations · Full text

Neurodegenerative Diseases, Developmental Biology, Infantile Myoclonic Epilepsy +9

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations

Maher Shahrour, Orna Staretz‐Chacham, Danit Dayan et al. · Clinical Genetics · 2016 · 40 citations · Full text

Timm50 Gene, Neurodegenerative Diseases, Mitochondrial Epileptic Encephalopathy +15

A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions

Laura Melchionda, Nadirah Damseh, Bassam Y. Abu Libdeh et al. · Frontiers in Genetics · 2014 · 21 citations · Full text

Genetics, Pathology, Molecular Biology +23