-
3
-
-
0028059272
-
The molecular genetics of Huntington disease
-
Goldberg, Y.P., Telenius, H. and Hayden, M.R. (1994) The molecular genetics of Huntington disease. Curr. Opin.Neurol., 7, 325-332.
-
(1994)
Curr. Opin.Neurol.
, vol.7
, pp. 325-332
-
-
Goldberg, Y.P.1
Telenius, H.2
Hayden, M.R.3
-
4
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research Group (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
-
-
-
5
-
-
0027370252
-
Differential 3′ polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression
-
Lin, B., Rommens, J.M., Graham, R.K., Kalchman, M.A., McDonald, H , Nasir, J., Delaney, A., Goldberg, Y.P. and Hayden, M.R. (1993) Differential 3′ polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression. Hum. Mol. Genet , 2, 1541-1545.
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 1541-1545
-
-
Lin, B.1
Rommens, J.M.2
Graham, R.K.3
Kalchman, M.A.4
McDonald, H.5
Nasir, J.6
Delaney, A.7
Goldberg, Y.P.8
Hayden, M.R.9
-
6
-
-
0028316870
-
Worldwide study of the Huntington's disease mutation: The sensitivity and specificity of repeated CAG sequences
-
Kremer, H.P.H., Goldberg, Y.P. Andrew, S.E., Theilmann, J., Telenius, H., Squitieri, F., Zeisler, J., Lin, B., Bassett, A., Almqvist, E et al. (1994) Worldwide study of the Huntington's disease mutation: the sensitivity and specificity of repeated CAG sequences. N. Engl. J. Med., 330, 1401-1406.
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 1401-1406
-
-
Kremer, H.P.H.1
Goldberg, Y.P.2
Andrew, S.E.3
Theilmann, J.4
Telenius, H.5
Squitieri, F.6
Zeisler, J.7
Lin, B.8
Bassett, A.9
Almqvist, E.10
-
7
-
-
0028904293
-
Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein
-
Jou, Y-S. and Myers, R.M. (1995) Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein. Hum. Mol. Genet., 4, 465-469.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 465-469
-
-
Jou, Y.-S.1
Myers, R.M.2
-
8
-
-
0028878844
-
Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice
-
Bingham, P.M., Scott, M.O., Wang, S., McPhaul, M.J. Wilson, E.M., Garbern, J.Y., Merry, D.E. and Fischbeck, K.H. (1995) Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nature Genet., 9, 191-196.
-
(1995)
Nature Genet.
, vol.9
, pp. 191-196
-
-
Bingham, P.M.1
Scott, M.O.2
Wang, S.3
McPhaul, M.J.4
Wilson, E.M.5
Garbern, J.Y.6
Merry, D.E.7
Fischbeck, K.H.8
-
9
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by CAG trinucleotide expansion
-
Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W S., Duvick, L.A., Zoghbi, H.Y., Orr, H.T. (1995) SCA1 transgenic mice: a model for neurodegeneration caused by CAG trinucleotide expansion. Cell, 82, 937-948.
-
(1995)
Cell
, vol.82
, pp. 937-948
-
-
Burright, E.N.1
Clark, H.B.2
Servadio, A.3
Matilla, T.4
Feddersen, R.M.5
Yunis, W.S.6
Duvick, L.A.7
Zoghbi, H.Y.8
Orr, H.T.9
-
10
-
-
0028940741
-
Myotonic dystrophy: Evidence for a possible dominant-negative RNA mutation
-
Wang, J., Pegoraro, E., Menegazzo, E., Gennarelli, M., Hoop, R.C., Angelini, C. and Hoffman, E.P. (1995) Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum. Mol. Genet., 4, 599-606.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 599-606
-
-
Wang, J.1
Pegoraro, E.2
Menegazzo, E.3
Gennarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
11
-
-
0026603841
-
Myotonic dystropy mutation: An unstable CTG repeat in the 3′ untranslated region of a candidate gene
-
Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barcelo, J., O'Hoy, K. et al. (1992) Myotonic dystropy mutation: an unstable CTG repeat in the 3′ untranslated region of a candidate 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
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
12
-
-
0025800165
-
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
-
Kremer, E.J., Pritchard, M., Lynch, M., Yu, S , Holman, K., Baker, E., Warren, S.T., Schlessinger, D., Sutherland, G.R. and Richard, R.I. (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
Schlessinger, D.8
Sutherland, G.R.9
Richard, R.I.10
-
13
-
-
0027176828
-
Association of fragile X syndrome with delayed replication of the FMR1 gene
-
Hansen, R.S., Canfield, T.K., Lamb, M.M., Gartier, S.M. and Laird, C.D. (1993) Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell, 73, 1403-1409.
-
(1993)
Cell
, vol.73
, pp. 1403-1409
-
-
Hansen, R.S.1
Canfield, T.K.2
Lamb, M.M.3
Gartier, S.M.4
Laird, C.D.5
-
14
-
-
0027313282
-
A transcription map of the region containing the Huntington disease gene
-
Rommens, J.M., Lin, B., Hutchinson, G.B. Andrew, S.E., Goldberg, Y.P., Glaves, M.L., Graham, R., Lai, V., McArthur, J., Nasir, J., Theilmann, J., McDonald, H., Kalchman, M., Clarke, L.A., Schappert, K. and Hayden, M.R. (1993) A transcription map of the region containing the Huntington disease gene. Hum. Mol. Genet., 2, 901-907.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 901-907
-
-
Rommens, J.M.1
Lin, B.2
Hutchinson, G.B.3
Andrew, S.E.4
Goldberg, Y.P.5
Glaves, M.L.6
Graham, R.7
Lai, V.8
McArthur, J.9
Nasir, J.10
Theilmann, J.11
McDonald, H.12
Kalchman, M.13
Clarke, L.A.14
Schappert, K.15
Hayden, M.R.16
-
15
-
-
0029055717
-
Targeted disruption of the Huntington disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
-
Nasir, J., Floresco, S.B., O'Kusky, J.R., Diewert, V.M., Richman, J.M., Zeisler, J., Borowski, A., Marth, J.D., Phillips, A.G. and Hayden, M.R. (1995) Targeted disruption of the Huntington disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell, 81, 811-823.
-
(1995)
Cell
, vol.81
, pp. 811-823
-
-
Nasir, J.1
Floresco, S.B.2
O'Kusky, J.R.3
Diewert, V.M.4
Richman, J.M.5
Zeisler, J.6
Borowski, A.7
Marth, J.D.8
Phillips, A.G.9
Hayden, M.R.10
-
16
-
-
0029298231
-
Gain of glutamines, gain of function?
-
Housman, D. (1995) Gain of glutamines, gain of function? Nature Genet., 10, 3-4.
-
(1995)
Nature Genet.
, vol.10
, pp. 3-4
-
-
Housman, D.1
-
17
-
-
0028920823
-
Structural analysis of the 5′ region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- And trinucleotide polymorphisms
-
Lin, B., Nasir, J., Kalchman, M.A., McDonald, H., Zeisler, J., Goldberg, Y.P. and Hayden, M.R. (1995) Structural analysis of the 5′ region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms. Genomics, 25, 707-715.
-
(1995)
Genomics
, vol.25
, pp. 707-715
-
-
Lin, B.1
Nasir, J.2
Kalchman, M.A.3
McDonald, H.4
Zeisler, J.5
Goldberg, Y.P.6
Hayden, M.R.7
-
18
-
-
0029055601
-
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier, Y., Devys, D., Imbert, G., Saudou, F , An, I., Lutz, Y., Weber, C., Agid, Y. Hirsch, E.C. and Mandel, J.L. (1995) Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nature Genet., 10, 104-110.
-
(1995)
Nature Genet.
, vol.10
, pp. 104-110
-
-
Trottier, Y.1
Devys, D.2
Imbert, G.3
Saudou, F.4
An, I.5
Lutz, Y.6
Weber, C.7
Agid, Y.8
Hirsch, E.C.9
Mandel, J.L.10
-
19
-
-
0029034511
-
Widespread expression of Huntington's disease gene (IT15) protein product
-
Sharp, A.H., Loev, S.J., Schilling, G., Li, S H., Li, X.J., Bao, J., Wagster, M.V., Kotszuk, J.A., Steiner, J.P., Lo, A., Hedreen, J., Sisodia, S., Snyder, S.H., Dawson, T.M., Ryugo, D.K., Ross, C.A. (1995) Widespread expression of Huntington's disease gene (IT15) protein product. Neuron, 14, 1065-1074.
-
(1995)
Neuron
, vol.14
, pp. 1065-1074
-
-
Sharp, A.H.1
Loev, S.J.2
Schilling, G.3
Li, S.H.4
Li, X.J.5
Bao, J.6
Wagster, M.V.7
Kotszuk, J.A.8
Steiner, J.P.9
Lo, A.10
Hedreen, J.11
Sisodia, S.12
Snyder, S.H.13
Dawson, T.M.14
Ryugo, D.K.15
Ross, C.A.16
-
20
-
-
0029092340
-
Expression of the HD gene (IT15) protein product in HD patients
-
Schilling, G., Sharp, A H., Loev, S.J., Wagster, M.V., Li, S-H., Stine, O.C., Ross, C.A. (1995) Expression of the HD gene (IT15) protein product in HD patients. Hum. Mol. Genet., 4, 1365-1371.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1365-1371
-
-
Schilling, G.1
Sharp, A.H.2
Loev, S.J.3
Wagster, M.V.4
Li, S.-H.5
Stine, O.C.6
Ross, C.A.7
-
21
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio, A., Koshy, B., Armstrong, D., Antalffy, B., Orr, H.T. and Zoghbi, H.Y. (1995) Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nature Genet., 10, 94-98.
-
(1995)
Nature Genet.
, vol.10
, pp. 94-98
-
-
Servadio, A.1
Koshy, B.2
Armstrong, D.3
Antalffy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
22
-
-
0027359989
-
Molecular analysis of new mutations causing Huntington disease: Intermediate alleles and sex of origin effects
-
Goldberg, Y.P., Kremer, B. Andrew, S.E., Theilmann, J., Graham, R.K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E. et al. (1994) Molecular analysis of new mutations causing Huntington disease: intermediate alleles and sex of origin effects. Nature Genet., 5, 174-179.
-
(1994)
Nature Genet.
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
Theilmann, J.4
Graham, R.K.5
Squitieri, F.6
Telenius, H.7
Adam, S.8
Sajoo, A.9
Starr, E.10
-
23
-
-
0028882509
-
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
-
Goldberg, Y.P., McMurray, C.T., Zeisler, J , Almqvist, E., Sillence, D., Richards, F., Gacy, A.M., Buchanan, J., Telenius, H. and Hayden, M.R. (1995) Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum. Mol. Genet., 4, 1911-1918.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1911-1918
-
-
Goldberg, Y.P.1
McMurray, C.T.2
Zeisler, J.3
Almqvist, E.4
Sillence, D.5
Richards, F.6
Gacy, A.M.7
Buchanan, J.8
Telenius, H.9
Hayden, M.R.10
-
24
-
-
0029075558
-
Sex dependent mechanisms for expansion and contractions of the CAG repeat on affected Huntington disease chromosomes
-
Kremer, B., Theilmann, J., Almqvist, E., Spence, N., Telenius, H., Goldberg, Y.P. and Hayden, M.R. (1995) Sex dependent mechanisms for expansion and contractions of the CAG repeat on affected Huntington disease chromosomes. Am. J. Hum. Genet., 57, 1-8
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1-8
-
-
Kremer, B.1
Theilmann, J.2
Almqvist, E.3
Spence, N.4
Telenius, H.5
Goldberg, Y.P.6
Hayden, M.R.7
-
25
-
-
0028177342
-
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntmgton disease gene, implications for diagnostic accuracy and predictive testing
-
Andrew, S.E., Goldberg, Y.P., Theilmann, J., Zeisler, J. and Hayden, M.R. (1994) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntmgton disease gene, implications for diagnostic accuracy and predictive testing. Hum. Mol. Genet., 3, 65-69.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 65-69
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Theilmann, J.3
Zeisler, J.4
Hayden, M.R.5
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