The gene for Huntington's disease (HD) was discovered in 1993, after an international collaborative initiative that led researchers to remote regions of South America. It was the most remarkable milestone, since George Huntington's initial description. Through the phenomenological discussions led by ...
and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it...
The mutation rate to Huntington's chorea. J Med Genet. 1982 Jun; 19 (3):161–167.Shaw M, Caro A. The mutation rate to Huntington's chorea. J Med Genet 1982;19:161-7.Shaw, M., Caro, A. (1982) The Mutation Rate to Huntington’s Chorea. J. Med. Genet. 19: pp. 161...
Huntington’s disease is a devastating neurogenerative disorder caused by a mutation in theHTTgene that results in cells producing abnormally large versions of the huntingtin protein. These expanded huntingtin proteins aggregate inside cells and damage them in various ways, although exactly how this res...
Huntington’s disease is a progressive neurodegenerative disease caused by mutation of the huntingtin (HTT) gene. The identification of mutation carriers before symptom onset provides an opportunity to intervene in the early stage of the disease course. Optimal biomarkers are of great value to reflect...
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A. et al. Systems genetics of metabolism: the use of the BXD murine reference panel for multiscalar integration of traits. Cell 150, 1287–1299 (2012). CAS PubMed PubMed Central Google Scholar Youngren, K. K. et al. The Ter mutation in the dead end gene causes germ cell loss and ...
Huntington's disease: a lifelong disease process Huntington's disease (HD) is a dominantly inherited disorder in which all affected individuals have precisely the same type of mutation, the expansion of a normally polymorphic CAG trinucleotide repeat in the HD gene, which lengthens a variable ...
Huntington disease is a neurodegenerative disorder transmitted as an autosomal dominant trait. It is the first neurological disease for which presymptomatic testing has been available for 20 years in France. Follow-up of mutation carriers provided a better understanding of the presymptomatic phase of the...
Huntington's disease (HD) is a fatal, dominant neurogenetic disorder. HD results from polyglutamine repeat expansion (CAG codon, Q) in exon 1 of HD, confer... SQ Harper,PD Staber,X He,... - 《Proceedings of the National Academy of Sciences of the United States of America》 被引量: ...