Huntington's disease is an autosomal-dominant, progressive neurodegenerative disorder
with a distinct phenotype, including chorea and dystonia, incoordination, cognitive decline …

Several neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and
spinocerebellar ataxia (SCA) are caused by non‐coding nucleotide repeat expansions …

An intronic G 4 C 2 hexanucleotide repeat expansion in C9ORF72 is a major cause of
amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Several mechanisms …

Now in a thoroughly revised and updated Sixth Edition, Localization in Clinical Neurology is
cornerstone in clinical neurology. Designed to aid clinicians in their quest to locate the …

Junctophilins (JPHs) comprise a family of structural proteins that connect the plasma
membrane to intracellular organelles such as the endo/sarcoplasmic reticulum (ER/SR) …

We previously reported that a (CTG) n expansion causes spinocerebellar ataxia type 8
(SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic …

Chorea is one of the major types of involuntary movement disorders originating from
dysfunctional neuronal networks interconnecting the basal ganglia and frontal cortical motor …

Microsatellite expansions cause a number of dominantly-inherited neurological diseases.
Expansions in coding-regions cause protein gain-of-function effects, while non-coding …

Expansion of the polymorphic CGG repeats within the 5′-UTR of the FMR1 gene is
associated with variable transcriptional regulation of FMR1. Here we report a novel gene …

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases
characterized by the association of red blood cell acanthocytosis and progressive …