More than 12 neurogenetic disorders are caused by unstable expansions of (CTG)•(CAG)
repeats. The expanded repeats are unstable in germline and somatic cells, with potential …

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 …

Instability of repetitive DNA sequences within the genome is associated with a number of
human diseases. The expansion of trinucleotide repeats is recognized as a major cause of …

Trinucleotide expansions cause disease by both protein-and RNA-mediated mechanisms.
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …

Background Inherited diseases caused by unstable repeated DNA sequences are rare, but
together represent a substantial cause of morbidity. Trinucleotide repeat disorders are …

The number of neurodegenerative diseases resulting from repeat expansion has increased
extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed …

Increases in repeat-DNA copy number are the molecular basis of a growing list of human
genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and …

Myotonic dystrophy (DM), Huntington's disease (HD) and Fragile X syndrome (FRAXA) are
three monogenic disease which are caused by so-called dynamic mutations. These …

Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are
cureless diseases associated with inheriting an abnormally large number of DNA …

Genomic technologies such as next-generation sequencing (NGS) are revolutionizing
molecular diagnostics and clinical medicine. However, these approaches have proven …