Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Accumulating evidence suggests that many classes of DNA repeats exhibit attributes that
distinguish them from other genetic variants, including the fact that they are more liable to …

Noncoding repeat expansions cause various neuromuscular diseases, including myotonic
dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic …

Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males,
is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG …

Cerebellar cognitive affective syndrome (CCAS; Schmahmann's syndrome) is characterized
by deficits in executive function, linguistic processing, spatial cognition, and affect regulation …

Background Short tandem repeat (STR) expansion disorders are an important cause of
human neurological disease. They have an established role in more than 40 different …

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels
or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we …

RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease
characterized by the presence of intranuclear inclusions of unknown origin. NIID is caused …

DNA methylation is a crucial epigenetic modification of the genome that is involved in
regulating many cellular processes. These include embryonic development, transcription …