Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage your publications. Semantic Scholar automatically creates author pages based on data aggregated from public sources and our publisher partners.
S El-Assal, C Alonso-Blanco, A J M Peeters, V Raz & M Koornneef Nature Genet. 29, 435–440 (2001). By error, three corrections were not made to proofs of the manuscript during its preparation for the… Expand
The genetic aetiologies of at least 20% of autosomal dominant spinocerebellar ataxias (SCAs) have yet to be elucidated. We have recently identified a novel form of autosomal dominant SCA, termed… Expand
A Trockenbacher, V Suckow, J Foerster, J Winter, S Kraus, H-H Ropers, R Schneider & S Schweiger Nature Genet. 29, 287–294 (2001). The correct date of receipt is 8 January 2001.
Huntington's disease (HD) is an autosomal dominant disorder characterized by abnormalities of movement, cognition, and emotion and selective atrophy of the striatum and cerebral cortex. While the… Expand
Huntington disease (HD) is an autosomal dominant degenerative disorder caused by an expanded and unstable trinucleotide repeat (CAG)n in a gene (IT-15) on chromosome 4. HD exhibits genetic… Expand
The two most consistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic anticipation-may be present in forms of dementia,… Expand
Abstract Twelve diseases, most with neuropsychiatric features, arise from trinucleotide repeat expansion mutations. Expansion mutations may also cause a number of other disorders, including several… Expand
RNase BN, a tRNA-processing enzyme previously shown to be required for the 3′-maturation of certain bacteriophage T4-encoded tRNAs, was overexpressed and purified to near homogeneity from Escherichia… Expand
Purpose: Children with high-risk neuroblastoma have a poor prognosis with chemotherapy alone, and hematopoietic stem cell transplantation offers improved survival. As a dose-escalation strategy,… Expand