James Gusella, PhD, Jong-Min Lee, PhD, Marcy E. MacDonald, PhD
Huntington’s disease: nearly four decades of human molecular genetics.

Hum Mol Genet. 2021 Oct 1;30(R2):R254-R263. doi: 10.1093/hmg/ddab170. PMID: 34169318; PMCID: PMC8490011.

Huntington’s disease (HD) is a devastating neurogenetic disorder whose familial nature and progressive course were first described in the 19th century but for which no disease-modifying treatment is yet available. Through the active participation of HD families, this disorder has acted as a flagship for the application of human molecular genetic strategies to identify disease genes, understand pathogenesis and identify rational targets for development of therapies.


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