Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …

The role of colony‐stimulating factor‐1 receptor (CSF‐1R) in macrophage and organismal
development has been extensively studied in mouse. Within the last decade, mutations in …

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …

Background Approximately two third of patients with a rare genetic disease remain
undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures …

Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous
origin, with> 100 causal genes identified to date. Classic targeted approaches achieve a …

Technological advancements have facilitated the availability of reliable and thorough
genetic analysis in many medical fields, including neurology. In this review, we focus on the …

Adult-onset leukodystrophies though individually rare are not uncommon. This group
includes several disorders with isolated adult presentations, as well as several childhood …

The translocase of outer mitochondrial membrane (TOMM) complex is the entry gate for
virtually all mitochondrial proteins and is essential to build the mitochondrial proteome …

The role of genetic testing in neurologic clinical practice has increased dramatically in recent
years, driven by research on genetic causes of neurologic disease and increased …

This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies
in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for …