Iman G. Mahmoud

TL;DR: Using whole-exome sequencing in combination with network analysis, 18 previously unknown putative HSP genes are identified and validated and link HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.

TL;DR: A new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability is described, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain–containing sorting factor.

TL;DR: These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy, despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.

TL;DR: This report is the first to describe relative frequency and spectrum of clinical and molecular data in a large cohort of Egyptian lysosomal patients, and estimates that over 80 % of Egyptian children presenting to the inherited metabolic disease unit at Cairo University Children’s Hospital do not have access to optimal diagnosis.

TL;DR: This publication includes mutations in ASAH1 collected through the Observational and Cross‐Sectional Cohort Study of the Natural History and Phenotypic Spectrum of Farber Disease, in combination with an up‐to‐date curated list of published mutations.