-
1
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, et al (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nature Genet 4:398-403
-
(1993)
Nature Genet
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
Telenius, H.4
Theilmann, J.5
Adam, S.6
Starr, E.7
-
2
-
-
0025350263
-
Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban founder-effect population
-
Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, et al (1990) Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet 46:1163-1177
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1163-1177
-
-
Auburger, G.1
Diaz, G.O.2
Capote, R.F.3
Sanchez, S.G.4
Perez, M.P.5
Del Cueto, M.E.6
Meneses, M.G.7
-
3
-
-
0027714831
-
Mapping and cloning of the critical region for the spinocerebellar ataxia type I gene in a yeast artificial chromosome contig spanning 1.2 Mb
-
Banfi S, Chung M-y, Kwiatkowski TJ Jr, Ranum LPW, McCall AE, Chinault AC, Orr HT, et al (1993) Mapping and cloning of the critical region for the spinocerebellar ataxia type I gene in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics 18:627-635
-
(1993)
Genomics
, vol.18
, pp. 627-635
-
-
Banfi, S.1
Chung, M.-Y.2
Kwiatkowski Jr., T.J.3
Ranum, L.P.W.4
McCall, A.E.5
Chinault, A.C.6
Orr, H.T.7
-
4
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
in press
-
Banfi S, Servadio A, Chung M-y, Kwiatkowski TJ Jr, McCall AE, Duvick LA (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet (in press)
-
(1994)
Nature Genet
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
Kwiatkowski Jr., T.J.4
McCall, A.E.5
Duvick, L.A.6
-
5
-
-
0026894334
-
Moderate instability of the trinucleotide repeat in spinobulbar muscular atrophy
-
Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JA (1992) Moderate instability of the trinucleotide repeat in spinobulbar muscular atrophy. Hum Mot Genet 1:255-258
-
(1992)
Hum Mot Genet
, vol.1
, pp. 255-258
-
-
Biancalana, V.1
Serville, F.2
Pommier, J.3
Julien, J.4
Hanauer, A.5
Mandel, J.A.6
-
6
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook JD, McCurrah ME, Harley HG, Buckler AJ, Church D. Aburatani H, Hunter K, et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrah, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
-
7
-
-
0026781867
-
Adult onset spinocerebellar ataxia linked to HLA in a large South African kindred of mixed ancestry
-
Bryer A, Martell RW, duToit ED, Beighton P (1992) Adult onset spinocerebellar ataxia linked to HLA in a large South African kindred of mixed ancestry. Tissue Antigens 40:111-115
-
(1992)
Tissue Antigens
, vol.40
, pp. 111-115
-
-
Bryer, A.1
Martell, R.W.2
DuToit, E.D.3
Beighton, P.4
-
8
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, et al (1992) Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355:547-548
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Van Tongeren, T.5
Aslanidis, C.6
De Jong, P.7
-
9
-
-
0026664470
-
The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)
-
Carson WJ, Radvany J, Farrer LA, Vincent D, Rosenberg RN, MacLeod PM, Rouleau GA, et al (1992) The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1). Genomics 13:852-855
-
(1992)
Genomics
, vol.13
, pp. 852-855
-
-
Carson, W.J.1
Radvany, J.2
Farrer, L.A.3
Vincent, D.4
Rosenberg, R.N.5
MacLeod, P.M.6
Rouleau, G.A.7
-
10
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung M-y, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet 5:254-258
-
(1993)
Nature Genet
, vol.5
, pp. 254-258
-
-
Chung, M.-Y.1
Ranum, L.P.W.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
11
-
-
0017871680
-
Autosomal dominant system degeneration in Portuguese families of the Azores
-
Coutinho P, Andrade C (1978) Autosomal dominant system degeneration in Portuguese families of the Azores. Neurology 28:703-709
-
(1978)
Neurology
, vol.28
, pp. 703-709
-
-
Coutinho, P.1
Andrade, C.2
-
12
-
-
0015410632
-
Spinocerebellar ataxia: Study of a large kindred. I. General information and genetics
-
Currier RD, Glover G, Jackson JF, Tipton AC (1972) Spinocerebellar ataxia: study of a large kindred. I. General information and genetics. Neurology 22:1040-1043
-
(1972)
Neurology
, vol.22
, pp. 1040-1043
-
-
Currier, R.D.1
Glover, G.2
Jackson, J.F.3
Tipton, A.C.4
-
13
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontalli M, Folstein S, et al (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nature Genet 4:387-392
-
(1993)
Nature Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
Frontalli, M.6
Folstein, S.7
-
14
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, et al (1992) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
-
(1992)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.-H.1
Kuhl, D.P.A.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.M.H.7
-
15
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, et al (1993) Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nature Genet 4:295-299
-
(1993)
Nature Genet
, vol.4
, pp. 295-299
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
-
16
-
-
0027359989
-
Molecular analysis of new mutations for Huntington's disease: Intermediate alleles and sex of origin effects
-
Goldberg YP, Kremer B, Andrew SE, Theilmann J, Graham RK, Squitieri F, Telenius, H, et al (1993) Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nature Genet 5:174-178
-
(1993)
Nature Genet
, vol.5
, pp. 174-178
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
Theilmann, J.4
Graham, R.K.5
Squitieri, F.6
Telenius, H.7
-
17
-
-
0024853961
-
Olivopontocerebellar atrophy in a large lakut kinship in eastern Siberia
-
Goldfarb LG, Chumakov MP, Petrov PA, Fedorova NI, Gajdusek DC (1989) Olivopontocerebellar atrophy in a large lakut kinship in eastern Siberia. Neurology 39:1527-1530
-
(1989)
Neurology
, vol.39
, pp. 1527-1530
-
-
Goldfarb, L.G.1
Chumakov, M.P.2
Petrov, P.A.3
Fedorova, N.I.4
Gajdusek, D.C.5
-
19
-
-
0021741939
-
Spinocerebellar ataxia in a large kindred: Age at onset, reproduction, and genetic linkage studies
-
Haines JL, Schut LJ, Weitkamp LR, Thayer M, Anderson VE (1984) Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 34:1542-1548
-
(1984)
Neurology
, vol.34
, pp. 1542-1548
-
-
Haines, J.L.1
Schut, L.J.2
Weitkamp, L.R.3
Thayer, M.4
Anderson, V.E.5
-
20
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, et al (1992) Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-546
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
-
21
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research Group, The (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
22
-
-
0017389522
-
Spinocerebellar ataxia and HLA linkage - Risk prediction by HLA typing
-
Jackson JF, Currier RD, Terasaki PI, Morton NE (1977) Spinocerebellar ataxia and HLA linkage - risk prediction by HLA typing. N Engl J Med 296:1138-1141
-
(1977)
N Engl J Med
, vol.296
, pp. 1138-1141
-
-
Jackson, J.F.1
Currier, R.D.2
Terasaki, P.I.3
Morton, N.E.4
-
23
-
-
0026040407
-
Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded
-
Keats BJB, Pollack MS, McCall A, Wilensky MA, Ward LJ, Lu M, Zoghbi HY (1991) Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet 49:972-977
-
(1991)
Am J Hum Genet
, vol.49
, pp. 972-977
-
-
Keats, B.J.B.1
Pollack, M.S.2
McCall, A.3
Wilensky, M.A.4
Ward, L.J.5
Lu, M.6
Zoghbi, H.Y.7
-
24
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6:9-13
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
-
25
-
-
0025800165
-
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
-
Kremer EJ, Pritchard M, Lynch M, Yu S, Holman K, Baker E, Warren ST, et al (1991) Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252:1711-1714
-
(1991)
Science
, vol.252
, pp. 1711-1714
-
-
Kremer, E.J.1
Pritchard, M.2
Lynch, M.3
Yu, S.4
Holman, K.5
Baker, E.6
Warren, S.T.7
-
26
-
-
0022546210
-
Hereditary cerebellar ataxia and genetic linkage with HLA
-
Kumar D, Blank CE, Gelsthorpe K (1986) Hereditary cerebellar ataxia and genetic linkage with HLA. Hum Genet 72:327-332
-
(1986)
Hum Genet
, vol.72
, pp. 327-332
-
-
Kumar, D.1
Blank, C.E.2
Gelsthorpe, K.3
-
27
-
-
0027486438
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus
-
Kwiatkowski TJ Jr, Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, et al (1993) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 53:391-400
-
(1993)
Am J Hum Genet
, vol.53
, pp. 391-400
-
-
Kwiatkowski Jr., T.J.1
Orr, H.T.2
Banfi, S.3
McCall, A.E.4
Jodice, C.5
Persichetti, F.6
Novelletto, A.7
-
28
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
-
Li S-H, McInnis MG, Margolis RL, Antonarakis SE, Ross CA (1993) Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms. Genomics 16:572-579
-
(1993)
Genomics
, vol.16
, pp. 572-579
-
-
Li, S.-H.1
McInnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
-
30
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
-
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neville, C.7
-
31
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, et al (1994) Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6:14-18
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
-
32
-
-
0018892013
-
A family with hereditary ataxia: HLA typing
-
Nino HE, Noreen HJ, Dubey DP, Resch JA, Namboodiri K, Elston RC, Yunis EJ (1980) A family with hereditary ataxia: HLA typing. Neurology 30:12-20
-
(1980)
Neurology
, vol.30
, pp. 12-20
-
-
Nino, H.E.1
Noreen, H.J.2
Dubey, D.P.3
Resch, J.A.4
Namboodiri, K.5
Elston, R.C.6
Yunis, E.J.7
-
33
-
-
0027327418
-
Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families
-
Norremolle A, Riess O, Epplen JT, Fenger K, Hasholt L, Sorensen SA (1993) Trinucleotide repeat elongation in the Huntington gene in Huntington disease patients from 71 Danish families. Hum Mol Genet 2:1475-1476
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1475-1476
-
-
Norremolle, A.1
Riess, O.2
Epplen, J.T.3
Fenger, K.4
Hasholt, L.5
Sorensen, S.A.6
-
34
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
-
Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, Auburger G (1990) Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40:1369-1375
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco Diaz, G.1
Nodarse Fleites, A.2
Cordoves Sagaz, R.3
Auburger, G.4
-
35
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M-y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, et al (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:211-226
-
(1993)
Nature Genet
, vol.4
, pp. 211-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
-
36
-
-
0025887289
-
Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds within an 8-cM subregion of chromosome 6p
-
Ranum LPW, Duvick LA, Rich SS, Schut LJ, Litt M, Orr HT (1991) Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds within an 8-cM subregion of chromosome 6p. Am J Hum Genet 49:31-41
-
(1991)
Am J Hum Genet
, vol.49
, pp. 31-41
-
-
Ranum, L.P.W.1
Duvick, L.A.2
Rich, S.S.3
Schut, L.J.4
Litt, M.5
Orr, H.T.6
-
37
-
-
0026553569
-
Autosomal dominant spinocerebellar ataxia: Locus heterogeneity in a Nebraska kindred
-
Ranum LPW, Rich SS, Nance MA, Duvick LA, Aita JF, Orr HT, Anton-Johnson S, et al (1992) Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology 43:344-347
-
(1992)
Neurology
, vol.43
, pp. 344-347
-
-
Ranum, L.P.W.1
Rich, S.S.2
Nance, M.A.3
Duvick, L.A.4
Aita, J.F.5
Orr, H.T.6
Anton-Johnson, S.7
-
38
-
-
0020691438
-
Joseph disease in a non-Portuguese family
-
Sakai T, Ohta M, Ishino H (1983) Joseph disease in a non-Portuguese family. Neurology 33:74-80
-
(1983)
Neurology
, vol.33
, pp. 74-80
-
-
Sakai, T.1
Ohta, M.2
Ishino, H.3
-
39
-
-
0000051759
-
Hereditary ataxia: Clinical study through six generations
-
Schur JW (1950) Hereditary ataxia: clinical study through six generations. Arch Neurol Psychiatry 63:535-586
-
(1950)
Arch Neurol Psychiatry
, vol.63
, pp. 535-586
-
-
Schur, J.W.1
-
40
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, et al (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 4:393-397
-
(1993)
Nature Genet
, vol.4
, pp. 393-397
-
-
Snell, R.G.1
MacMillan, J.C.2
Cheadle, J.P.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
MacDonald, M.E.7
-
41
-
-
0027432418
-
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
-
Strong TV, Tagle DA, Valdes JM, Elmer LW, Boehm K, Swaroop M, Kaatz KW, et al (1993) Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nature Genet 5:259-265
-
(1993)
Nature Genet
, vol.5
, pp. 259-265
-
-
Strong, T.V.1
Tagle, D.A.2
Valdes, J.M.3
Elmer, L.W.4
Boehm, K.5
Swaroop, M.6
Kaatz, K.W.7
-
42
-
-
0027279503
-
The gene for Machado-Joseph disease maps to human chromosome 14q
-
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, et al (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet 4:300-304
-
(1993)
Nature Genet
, vol.4
, pp. 300-304
-
-
Takiyama, Y.1
Nishizawa, M.2
Tanaka, H.3
Kawashima, S.4
Sakamoto, H.5
Karube, Y.6
Shimazaki, H.7
-
43
-
-
0027381482
-
Molecular analysis of juvenile Huntington disease: The major influence on (CAG)n repeat length is the sex of the affected parent
-
Telenius H, Kremer HPH, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, et al (1993) Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet 2:1535-1540
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1535-1540
-
-
Telenius, H.1
Kremer, H.P.H.2
Theilmann, J.3
Andrew, S.E.4
Almqvist, E.5
Anvret, M.6
Greenberg, C.7
-
44
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.J.M.H.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.-H.4
Kuhl, D.P.A.5
Pizzuti, A.6
Reiner, O.7
-
46
-
-
0025871615
-
The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds
-
Zoghbi HY, Jodice C, Sandkuijl LA, Kwaitkowski TJ Jr, McCall AE, Huntoon SA, Lulli, P, et al (1991) The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet 49:23-30
-
(1991)
Am J Hum Genet
, vol.49
, pp. 23-30
-
-
Zoghbi, H.Y.1
Jodice, C.2
Sandkuijl, L.A.3
Kwaitkowski Jr., T.J.4
McCall, A.E.5
Huntoon, S.A.6
Lulli, P.7
-
47
-
-
0023875234
-
Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred
-
Zoghbi HY, Pollack MS, Lyons LA, Ferrell RE, Daiger SP, Beaudet AL, et al (1988) Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann Neuroal 23:580-584
-
(1988)
Ann Neuroal
, vol.23
, pp. 580-584
-
-
Zoghbi, H.Y.1
Pollack, M.S.2
Lyons, L.A.3
Ferrell, R.E.4
Daiger, S.P.5
Beaudet, A.L.6
-
48
-
-
0027327417
-
Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin
-
Zuhlke C, Riess O, Schroder K, Siedlaczck I, Epplen JT, Engel W Thies U (1993) Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin. Hum Mol Genet 2:1467-1469
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1467-1469
-
-
Zuhlke, C.1
Riess, O.2
Schroder, K.3
Siedlaczck, I.4
Epplen, J.T.5
Engel, W.6
Thies, U.7
|