Background While behavioural abnormalities are fundamental features of Rett syndrome (RTT),
few studies have examined the RTT behavioural phenotype. Most of these reports have …

BACKGROUND AND PURPOSE: Previous studies have examined volumetric abnormalities
in Rett syndrome (RTT), using MR imaging and focusing on selective changes. However, …

Objective Duchenne and Becker muscular dystrophies (DBMD) are allelic disorders caused
by mutations in dystrophin. Adults with DBMD develop life‐threatening cardiomyopathy. …

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder
caused by contractions of repetitive elements within the macrosatellite D4Z4 on …

… We collected ∼1 g of tissue each from both biceps and deltoid muscles of 19 individual
donors in seven ‘cohorts,’ where each cohort consisted of one or more FSHD subjects and …

BACKGROUND AND PURPOSE: RTT, caused by mutations in the methyl CPG binding
protein 2 (MeCP2) gene, is a disorder of neuronal maturation and connections. Our aim was to …

The clinical variability of Rett syndrome, associated with mutations in the MECP2 gene, varies
from classically symptomatic female patients to asymptomatic female patients, and male …

X-linked adrenoleukodystrophy (X-ALD) is a progressive peroxisomal disorder affecting
adrenal glands, testes and myelin stability that is caused by mutations in the ABCD1 (…

Objective: To determine safety and perform a preliminary assessment of dose-dependent
efficacy of dextromethorphan in normalizing electrographic spikes, clinical seizures, and …

We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications,
and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded …