The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

The purpose of this article is to present contemporary information on the clinical and
molecular diagnosis and the treatment of Pelizaeus-Merzbacher's disease (PMD) and …

Alternative splicing is an important regulator of the transcriptome. However, mutations may
cause alteration of splicing patterns, which in turn leads to disease. During the past 10 …

The high degree of similarity between mouse and human physiology and genomes makes
mice the animal model of choice to study the functions and dysfunctions of the central …

The protein composition of myelin in the central nervous system (CNS) has changed at the
evolutionary transition from fish to tetrapods, when a lipid-associated transmembrane …

Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central
nervous system (CNS)—a rare disorder that especially concerns males. Its estimated …

Objective The objective of this study was to investigate the genetic etiology of the X‐linked
disorder “Hypomyelination of Early Myelinating Structures”(HEMS). Methods We included 16 …

Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and
DM20, due to alternative use of 5′ splice sites with the same acceptor site in intron 3. The …

Leukodystrophies are a group of orphan genetic diseases that primarily affect the white
matter (WM) of the brain. The diagnosis and classification of these pathologies have been …

Background Sequencing of both healthy and disease singletons yields many novel and low
frequency variants of uncertain significance (VUS). Complete gene and genome sequencing …