We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in
seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). …

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuromuscular disease
and is characterized by considerable clinical and genetic heterogeneity 1 . We previously …

The epilepsies are a common, clinically heterogeneous group of disorders defined by
recurrent unprovoked seizures 1. Here we describe identification of the causative gene in …

Clinal patterns of autosomal genetic diversity within Europe have been interpreted in
previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in …

INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory
neuropathy. The axonal form of the disease is designated as "CMT type 2" (CMT2). Although four …

Wilson disease (WD) is an autosomal recessive disorder characterized by toxic accumulation
of copper in the liver and subsequently in the brain and other organs. On the basis of …

We have identified a new T--> C transition on the human Y chromosome. C-allele chromosomes
have been found only in a subset of the populations from Asia and northern Europe and …

Short-read sequencing has enabled the de novo assembly of several individual human
genomes, but with inherent limitations in characterizing repeat elements. Here we sequence a …

Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy that starts in
adolescence. A major JME susceptibility locus (EJM1) was mapped to chromosomal region …