Mahmoud Y. Issa

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki et al. · Science · 2014 · 526 citations · Full text

Neurological Disorder, Genetics, Network Analysis +18

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Periklis Makrythanasis, Mitsuhiro Kato, Maha S. Zaki et al. · The American Journal of Human Genetics · 2016 · 85 citations · Full text

Mendelian Disorder, Neurological Disorder, Genetic Disorder +8

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Clara D.M. van Karnebeek, Rúben J. Ramos, Xiao‐Yan Wen et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Allelic Variant, Genetic Disorder, Pathogenesis +4

Novel congenital disorder of <i>O</i>-linked glycosylation caused by GALNT2 loss of function

Monica Zilmer, Andrew C. Edmondson, Sumeet A. Khetarpal et al. · Brain · 2020 · 80 citations · Full text

High Density, Protein Glycosylation, Developmental Biology +15