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 …

Substantial progress has been realized in the past several years in our understanding of the
molecular mechanisms responsible for the expansions and deletions (genetic instabilities) …

The inherited neurodegenerative disease Friedreich's ataxia (FRDA) is caused by GAA⋅
TTC triplet repeat hyperexpansions within the first intron of the FXN gene, encoding the …

Trinucleotide repeat expansion is the causative mutation for a growing number of diseases
including myotonic dystrophy, Huntington's disease, and fragile X syndrome. A (CTG/CAG) …

A quantitative and selective genetic assay was developed to monitor expansions of
trinucleotide repeats (TNRs) in yeast. A promoter containing 25 repeats allows expression of …

Models for the disease-associated expansion of trinucleotide repeats involve the
participation of alternative DNA structures during replication, repair, or recombination. CAT …

The expansion of trinucleotide repeat sequences is associated with several
neurodegenerative diseases. The mechanism of this expansion is unknown but may involve …

Alterations in the length (instability) of gene-specific microsatellites and minisatellites are
associated with at least 35 human diseases. This review will discuss the various cis …

Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative
disorder caused by expansion of a CGG trinucleotide repeat in the 5′ UTR of the fragile X …

Expansions of specific DNA triplet repeats are the cause of an increasing number of
hereditary neurological disorders in humans. In some diseases, such as Huntington's and …