RV Kantety, M La Rota, DE Matthews… - Plant molecular biology, 2002 - Springer
Plant genomics projects involving model species and many agriculturally important crops are resulting in a rapidly increasing database of genomic and expressed DNA sequences …
G Imbert, F Saudou, G Yvert, D Devys, Y Trottier… - Nature …, 1996 - nature.com
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …
S Holbert, I Denghien, T Kiechle… - Proceedings of the …, 2001 - National Acad Sciences
Huntington's disease (HD) is a neurodegenerative disease caused by polyglutamine expansion in the protein huntingtin (htt). Pathogenesis in HD appears to involve the …
Schizophrenia is one of the most common, devastating, and least understood neuropsychiatric illnesses present in the human population. Despite decades of research …
O Riess, L Schöls, H Böttger, D Nolte… - Human molecular …, 1997 - academic.oup.com
Recently, moderate (CAG)> 20 repeat expansions in the α1A-voltage-dependent calcium channel gene (CACNL1A4) have been identified in a previously unmapped type of SCA …
There are currently 13 diseases known to be caused by unstable triplet repeat mutations; however, there are some instances (as with FRAXF and FRA16) when these mutations …
M Seri, R Cusano, P Forabosco, R Cinti, F Caroli… - The American Journal of …, 1999 - cell.com
We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with …
RL Margolis, MR Abraham, SB Gatchell, SH Li… - Human genetics, 1997 - Springer
Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders …
S Holbert, A Dedeoglu, S Humbert… - Proceedings of the …, 2003 - National Acad Sciences
Huntington's disease (HD) is a neurodegenerative disease caused by polyglutamine (polyQ) expansion in the protein huntingtin (htt). Pathogenesis in HD seems to involve the formation …