Shahnaz Ibrahim

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sídney M. Gospe et al. · The American Journal of Human Genetics · 2012 · 378 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Muzammil Ahmad Khan, Muhammad Rafiq, Abdul Noor et al. · The American Journal of Human Genetics · 2012 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Clinical profile and treatment of infantile spasms using vigabatrin and ACTH - a developing country perspective

Shahnaz Ibrahim, Shamshad Gulab, Sidra Ishaque et al. · BMC Pediatrics · 2010 · 150 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +9

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12