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 …

Disease-causing repeat instability is an important and unique form of mutation that is linked
to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat …

Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge
both genetic discovery and molecular diagnosis. In this study, we identified an intronic (GAA) …

To elucidate the pathogenic mechanisms in Huntington's disease (HD) elicited by
expression of full-length human mutant huntingtin (fl-mhtt), a bacterial artificial chromosome …

Repetitive DNA motifs are abundant in the genomes of various species and have the
capacity to adopt non-canonical (ie, non-B) DNA structures. Several non-B DNA structures …

▪ Abstract Fragile X syndrome is one of the most common forms of inherited mental
retardation. In most cases the disease is caused by the methylation-induced transcriptional …

Expansions of simple DNA repeats are responsible for more than two dozen hereditary
disorders in humans, including fragile X syndrome, myotonic dystrophy, Huntington's …

Background Huntington's disease is a fatal neurodegenerative disorder that is caused by
CAG-CAA repeat expansion, encoding polyglutamine, in the huntingtin (HTT) gene. Current …

Since its discovery in 2001, our understanding of fragile X-associated tremor/ataxia
syndrome (FXTAS) has undergone a remarkable transformation. Initially characterized …

Fragile sites are heritable specific chromosome loci that exhibit an increased frequency of
gaps, poor staining, constrictions or breaks when chromosomes are exposed to partial DNA …