Two decades ago, molecular genetic analysis provided a new approach for defining the roots
of inherited disorders. This strategy has proved particularly powerful because, with only a …

Huntington's disease is an inherited disorder in which selective neuronal loss in the brain
leads to a characteristic choreic movement disorder. The successful mapping of the …

Huntington's disease (HD) is a devastating neurodegenerative disorder that directly affects
more than 1 in 10,000 persons in Western societies but, as a family disorder with a long, …

The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification.
We have used haplotype analysis of linkage disequilibrium to spotlight a small segment …

Rare individuals have been multiply exposed to HIV-1 but remain uninfected. The CD4 + T-cells
of two of these individuals, designated EU2 and EU3, are highly resistant in vitro to the …

Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by the occurrence
of bilateral vestibular schwannomas and other central nervous system tumors including …

The genetics of complex disease produce alterations in the molecular interactions of cellular
pathways whose collective effect may become clear through the organized structure of …

Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's
disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a toxic …

Polyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for
the neuronal toxicity associated with Huntington's disease (HD). Although wild-type …

Huntington's disease (HD) is a dominant neurodegenerative disorder caused by expansion
of a CAG repeat in the gene encoding huntingtin, a protein of unknown function. To …