Provider: Nature Publishing Group Content: application/x-research-info-systems TY - JOUR AU - Martin, J.B. AU - Gusella, J.F. TI - Huntington's disease: Pathogenesis and management JO - New Engl. J. Med. PY - 1986/// VL - 315 SP - 1267 EP - 1276 ER - TY - GEN AU - Merrit, A.D. AU - Conneally, P.M. AU - Rahman, N.F. AU - Drew, A.L. TI - Progress in neurogenetics PY - 1969/// ER - TY - JOUR AU - Bird, E.D. AU - Caro, A.J. AU - Pilling, J.B. TI - A sex related factor in the inheritance of Huntington's chorea JO - Ann. hum. Genet. PY - 1974/// VL - 37 SP - 255 EP - 260 ER - TY - JOUR TI - A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes JO - Cell PY - 1993/// VL - 72 SP - 971 EP - 983 ER - TY - JOUR AU - Gusella, J.F. TI - A polymorphic DNA marker genetically linked to Huntington's Disease JO - Nature PY - 1983/// VL - 306 SP - 234 EP - 238 ER - TY - JOUR AU - Wexler, N.S. TI - Homozygotes for Huntington's disease JO - Nature PY - 1987/// VL - 326 SP - 194 EP - 197 M3 - 10.1038/326194a0 N1 - 10.1038/326194a0 UR - http://dx.doi.org/10.1038/326194a0 ER - TY - JOUR AU - Folstein, S.E. TI - Huntington's Disease: Two families with differing clinical features show linkage to the G8 probe JO - Science PY - 1985/// VL - 229 SP - 776 EP - 779 ER - TY - JOUR AU - MacDonald, M.E. TI - The Huntington's disease candidate region exhibits many different haplotypes JO - Nature Genet. PY - 1992/// VL - 1 SP - 99 EP - 103 ER - TY - JOUR AU - MacDonald, M.E. TI - Recombination events suggest possible locations for the Huntington's disease gene JO - Neuron PY - 1989/// VL - 3 SP - 183 EP - 190 M3 - 10.1016/0896-6273(89)90031-7 N1 - 10.1016/0896-6273(89)90031-7 UR - http://dx.doi.org/10.1016/0896-6273(89)90031-7 ER - TY - JOUR AU - Pritchard, C. TI - Recombination of 4p16 DNA markers in an unusual family with Huntington disease JO - Am. J. hum. Genet. PY - 1992/// VL - 50 SP - 1218 EP - 1230 ER - TY - JOUR AU - Meissen, G.J. TI - Predictive testing for Huntington's disease with use of a linked DNA marker JO - New Engl. J. Med. PY - 1988/// VL - 318 SP - 535 EP - 542 ER - TY - JOUR AU - Brandt, J. TI - Presymptomatic diagnosis of delayed-onset disease with linked DNA markers: The experience in Huntington's disease JO - J. Am. med. Assoc. PY - 1989/// VL - 261 SP - 3108 EP - 3114 M3 - 10.1001/jama.261.21.3108 N1 - 10.1001/jama.261.21.3108 UR - http://dx.doi.org/10.1001/jama.261.21.3108 ER - TY - JOUR AU - Suthers, G.K. AU - Huson, S.M. AU - Davies, K.E. TI - Instability versus predictability: the molecular diagnosis of myotonic dystrophy JO - J. med. Genet. PY - 1992/// VL - 29 SP - 761 EP - 765 ER - TY - JOUR AU - Fu, Y.H. TI - Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox JO - Cell PY - 1991/// VL - 67 SP - 1047 EP - 1058 M3 - 10.1016/0092-8674(91)90283-5 N1 - 10.1016/0092-8674(91)90283-5 UR - http://dx.doi.org/10.1016/0092-8674(91)90283-5 ER - TY - JOUR AU - Kremer, E.J. TI - Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n JO - Science PY - 1991/// VL - 252 SP - 1711 EP - 1714 ER - TY - JOUR AU - Verkerk, A.J.M.H. TI - Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome JO - Cell PY - 1991/// VL - 65 SP - 904 EP - 914 ER - TY - JOUR AU - Yu, S. TI - Fragile-X syndrome: unique genetics of the heritable unstable element JO - Am. J. hum. Genet. PY - 1992/// VL - 50 SP - 968 EP - 980 ER - TY - JOUR AU - Brook, J.D. TI - Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3[prime] end of a transcript encoding a protein kinase family member JO - Cell PY - 1992/// VL - 68 SP - 799 EP - 808 M3 - 10.1016/0092-8674(92)90154-5 N1 - 10.1016/0092-8674(92)90154-5 UR - http://dx.doi.org/10.1016/0092-8674(92)90154-5 ER - TY - JOUR AU - Aslanidis, C. TI - Cloning of the essential myotonic dystrophy region and mapping of the putative defect JO - Nature PY - 1992/// VL - 355 SP - 548 EP - 551 M3 - 10.1038/355548a0 N1 - 10.1038/355548a0 UR - http://dx.doi.org/10.1038/355548a0 ER - TY - JOUR AU - Buxton, J. TI - Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy JO - Nature PY - 1992/// VL - 355 SP - 547 EP - 548 M3 - 10.1038/355547a0 N1 - 10.1038/355547a0 UR - http://dx.doi.org/10.1038/355547a0 ER - TY - JOUR AU - Fu, Y.H. TI - An unstable triplet repeat in a gene related to myotonic muscular dystrophy JO - Science PY - 1992/// VL - 255 SP - 1256 EP - 1259 ER - TY - JOUR AU - Harley, H.G. TI - Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy JO - Nature PY - 1992/// VL - 355 SP - 545 EP - 546 M3 - 10.1038/355545a0 N1 - 10.1038/355545a0 UR - http://dx.doi.org/10.1038/355545a0 ER - TY - JOUR AU - Harley, H.G. TI - Unstable DNA sequence in myotonic dystrophy JO - Lancet PY - 1992/// VL - 339 SP - 1125 EP - 1128 M3 - 10.1016/0140-6736(92)90729-M N1 - 10.1016/0140-6736(92)90729-M UR - http://dx.doi.org/10.1016/0140-6736(92)90729-M ER - TY - JOUR AU - Mahadevan, M. TI - Myotonic dystrophy mutation: an unstable CTG repeat in the 3[prime] untranslated region of the gene JO - Science PY - 1992/// VL - 255 SP - 1253 EP - 1255 ER - TY - JOUR AU - Tsilfidis, C. AU - McKenzie, A.E. AU - Mettler, G. AU - Barcelo, J. AU - Komeluk, R.G. TI - Correlation between CTG trinucleotide repeat length and frequency of severe congential myotonic dystrophy JO - Nature Genet. PY - 1992/// VL - 1 SP - 192 EP - 195 ER - TY - JOUR AU - Bruner, H.G. TI - Reverse mutation in myotonic dystrophy JO - New Engl. J. Med. PY - 1993/// VL - 328 SP - 476 EP - 480 M3 - 10.1056/NEJM199302183280705 N1 - 10.1056/NEJM199302183280705 UR - http://dx.doi.org/10.1056/NEJM199302183280705 ER - TY - JOUR AU - LaSpada, A.R. AU - Wilson, E.M. AU - Lubahn, D.B. AU - Harding, A.E. AU - Fishbeck, H. TI - Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy JO - Nature PY - 1991/// VL - 352 SP - 77 EP - 79 M3 - 10.1038/352077a0 N1 - 10.1038/352077a0 UR - http://dx.doi.org/10.1038/352077a0 ER - TY - JOUR AU - LaSpada, A.R. TI - Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy JO - Nature Genet PY - 1992/// VL - 2 SP - 301 EP - 304 ER - TY - JOUR AU - Biancalana, V. AU - Serville, F. AU - Pommier, J. AU - Julien, J. AU - Hanauer, A. AU - Mandel, J.L. TI - Moderate instability of the trinucleotide repeat in spino-bulbar muscular atrophy JO - Hum. molec. Genet. PY - 1992/// VL - 1 SP - 255 EP - 258 ER - TY - JOUR AU - Conneally, P.M. TI - Huntington disease: No evidence for locus heterogeneity JO - Genomics PY - 1989/// VL - 5 SP - 304 EP - 308 ER - TY - JOUR AU - Anderson, M.A. AU - Gusella, J.F. TI - Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines JO - In Vitro PY - 1984/// VL - 20 SP - 856 EP - 858 ER - TY - GEN PY - 1989/// ER - TY - JOUR AU - Orr, H.T. TI - Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1 JO - Nature Genet. PY - 1993/// VL - 4 SP - 221 EP - 226 M3 - 10.1038/ng0793-221 N1 - 10.1038/ng0793-221 UR - http://dx.doi.org/10.1038/ng0793-221 ER - TY - JOUR AU - Gispert, S. TI - Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23[ndash]24.1 JO - Nature Genet. PY - 1993/// VL - 4 SP - 295 EP - 299 M3 - 10.1038/ng0793-295 N1 - 10.1038/ng0793-295 UR - http://dx.doi.org/10.1038/ng0793-295 ER -