The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

The spinocerebellar ataxias (SCAs) comprise more than 40 autosomal dominant
neurodegenerative disorders that present principally with progressive ataxia. Within the past …

There are no disease-modifying treatments for adult human neurodegenerative diseases.
Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 …

Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

Tandem microsatellite repeats are common throughout the human genome and intrinsically
unstable, exhibiting expansions and contractions both somatically and across generations …

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis
(ALS) remain poorly understood. Structural variants within the genome can play a significant …

Since the discovery of repeat-associated non-ATG (RAN) translation, and more recently its
association with amyotrophic lateral sclerosis/frontotemporal dementia, there has been an …

Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome
and have important roles in genome evolution and function. However, the expansion of …

Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy
(FECD) is the presence of an intronic (CTG· CAG) n trinucleotide repeat (TNR) expansion in …

Spinocerebellar ataxias are heritable neurodegenerative diseases caused by a cytosine-
adenine-guanine expansion, which encodes a long glutamine tract (polyglutamine) in the …