It is becoming increasingly evident that the underlying mutation of a single locus is often
insufficient for the prediction of the comprehensive phenotype in human Mendelian …

Huntington's disease (HD) is a prototypical autosomal dominant human disorder in which a
strong effect genetic defect causes a devastating neurodegenerative disease. It was the first …

For almost three decades, Huntington's disease has been a prototype for the application of
genetic strategies to human disease. HD, the Huntington's disease gene, was the first …

Genetic analysis aims to identify the variations in DNA sequence whose functional
consequences produce heritable variations in phenotype. In one of the first successes of …

Identifying molecular drivers of pathology provides potential therapeutic targets.
Differentiating between drivers and coincidental molecular alterations presents a major …

Huntington disease (HD) is a neurodegenerative disorder that is caused by a CAG repeat
expansion in HTT. The length of this repeat, however, only explains a proportion of the …

Huntington's disease (HD) is caused by the expansion of a CAG repeat within exon 1 of the
huntingtin (HTT) gene. Although the variation in age at onset is partly explained by the …

Age at onset of Huntington disease, an inherited neurodegenerative disorder, is influenced
by the size of the disease-causing CAG trinucleotide repeat expansion in HTT and by …

Huntington's disease (HD) is an incurable and fatal hereditary neurodegenerative disorder
of mid-life onset characterized by chorea, emotional distress, and progressive cognitive …

In the decades since the genes and mutations associated with the commoner Mendelian
disorders were first discovered, technological advances in genetic analysis have made …