-
1
-
-
0029245258
-
Spinocerehellar ataxia type 1
-
Zoghbi, H.Y. and Orr, H.T. (1995) Spinocerehellar ataxia type 1. Sem. Cell Biol., 6, 29-35.
-
(1995)
Sem. Cell Biol.
, vol.6
, pp. 29-35
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
2
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr, H.T., Chung, M.-y., Banfi, S., Kwiatkowski, T.J., Jr., Servadio, A., Beaudet, A.L., McCall, A.E., Duvick, L.A., Ranum, L.P.W. and Zoghhi, H.Y. (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 4, 221-226.
-
(1993)
Nature Genet.
, vol.4
, pp. 221-226
-
-
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
Duvick, L.A.8
Ranum, L.P.W.9
Zoghhi, H.Y.10
-
3
-
-
0028017992
-
Identification and characterization of the gene causing type 1 spinocerebellar ataxia
-
Banfi, S., Servadio, A., Chung, M.-y., Kwiatkowski, T.J., Jr., McCall, A.E., Duvick, L.A., Shen, Y., Roth, E.J., Orr, H.T. and Zoghbi, H.Y. (1994) Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nature Genet., 7, 513-519.
-
(1994)
Nature Genet.
, vol.7
, pp. 513-519
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
Kwiatkowski Jr., T.J.4
McCall, A.E.5
Duvick, L.A.6
Shen, Y.7
Roth, E.J.8
Orr, H.T.9
Zoghbi, H.Y.10
-
4
-
-
0027495515
-
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung, M.-y, Ranum, L.P.W., Duviek, L.A., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (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
Duviek, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
5
-
-
0027716371
-
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias
-
Matilla, T., Volpini, V., Genis, D. Rosell, J., Corral, J., Davalos, A., Molins, A. and Estivill, X. (1993) Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. Mol Genet., 2, 2123-2128.
-
(1993)
Hum. Mol Genet.
, vol.2
, pp. 2123-2128
-
-
Matilla, T.1
Volpini, V.2
Genis, D.3
Rosell, J.4
Corral, J.5
Davalos, A.6
Molins, A.7
Estivill, X.8
-
6
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): Evidence for familial effects on the age of onset
-
Ranum, L.P.W., Chung, M.-y., Banfi, S., Bryer, A., Schut, L.J., Ramesar, R., Duvick, L.A., McCall, A.E., Subramony, S.H., Goldfarb, L., Gomez, C., Sandkuijl, L.A., Orr, H.T. and Zoghbi, H.Y. (1994) Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): evidence for familial effects on the age of onset. Am. J. Hum. Genet., 55, 244-252.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 244-252
-
-
Ranum, L.P.W.1
Chung, M.-Y.2
Banfi, S.3
Bryer, A.4
Schut, L.J.5
Ramesar, R.6
Duvick, L.A.7
McCall, A.E.8
Subramony, S.H.9
Goldfarb, L.10
Gomez, C.11
Sandkuijl, L.A.12
Orr, H.T.13
Zoghbi, H.Y.14
-
7
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1
-
Jodice, C., Malaspina, P., Persichetti, F., Noveletto, A., Spadaro, M., Giunti, P., Morocutti, C., Terrenato, L., Hording, A.E. and Frontali, M. (1994) Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1. Am. J. Hum. Genet., 54, 959-965.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Noveletto, A.4
Spadaro, M.5
Giunti, P.6
Morocutti, C.7
Terrenato, L.8
Hording, A.E.9
Frontali, M.10
-
8
-
-
0029968460
-
Trinucleotide repeats in neurogenetic disorders
-
Paulson, H.L. and Fischbeck, K.H. (1996) Trinucleotide repeats in neurogenetic disorders. Annu. Rev. Neurosci., 19, 79-107.
-
(1996)
Annu. Rev. Neurosci.
, vol.19
, pp. 79-107
-
-
Paulson, H.L.1
Fischbeck, K.H.2
-
9
-
-
0029163222
-
SCAI transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N., Clark, H.B., Servadio, A., Matilla, T., Feddersen, R.M., Yunis, W.S., Duvick, L.A., Zoghbi, H.Y. and Orr, H.T. (1995) SCAI transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. 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
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz, M.F., Johnson, T., Suzuki, M. and Finch, J.T. (1994) Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc. Nail. Acad. Sci. USA, 91, 5535-5538.
-
(1994)
Proc. Nail. Acad. Sci. USA
, vol.91
, pp. 5535-5538
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
11
-
-
0024406857
-
A novel genetic system to detect protein-protein interactions
-
Fields, S. and Song, O. (1989) A novel genetic system to detect protein-protein interactions. Nature, 340, 245-246.
-
(1989)
Nature
, vol.340
, pp. 245-246
-
-
Fields, S.1
Song, O.2
-
12
-
-
0025940629
-
A method to identify and clone genes for proteins that interact with a protein of interest
-
Chien, C.-T., Bartel, P.L., Sternglanz, R. and Fields, S. (1991) A method to identify and clone genes for proteins that interact with a protein of interest. Proc. Natl. Acad. Sci. USA, 88, 9578-9582.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 9578-9582
-
-
Chien, C.-T.1
Bartel, P.L.2
Sternglanz, R.3
Fields, S.4
-
13
-
-
0022622235
-
Separation of DNA binding from the transcription-activating function of a eukaryotic regulatory protein
-
Keegan, L., Gill, G. and Ptashne, M. (1986) Separation of DNA binding from the transcription-activating function of a eukaryotic regulatory protein. Science, 231, 699-704.
-
(1986)
Science
, vol.231
, pp. 699-704
-
-
Keegan, L.1
Gill, G.2
Ptashne, M.3
-
14
-
-
0023652389
-
Deletion analysis of GAL4 defines two transcriptional activating sequences
-
Ma, J. and Ptashne, M. (1987) Deletion analysis of GAL4 defines two transcriptional activating sequences. Cell, 48, 847-853.
-
(1987)
Cell
, vol.48
, pp. 847-853
-
-
Ma, J.1
Ptashne, M.2
-
15
-
-
0030058227
-
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Scal)
-
Banfi, S., Servadio, A., Chung, M.-Y., Capozzoli, F., Duvick, L.A., Elde, R., Zoghbi, H.Y. and Orr, HT. (1996) Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Scal). Hum. Mol. Genet., 5, 33-40.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 33-40
-
-
Banfi, S.1
Servadio, A.2
Chung, M.-Y.3
Capozzoli, F.4
Duvick, L.A.5
Elde, R.6
Zoghbi, H.Y.7
Orr, H.T.8
-
16
-
-
0029670831
-
cDNA cloning and expression of rscal, the rat counterpart of the human spinocerebellar ataxia type 1 gene
-
Gossen, M., Schmitt, I., Obst, K., Wahle, P., Epplen, J. T. and Riess, O. (1996) cDNA cloning and expression of rscal, the rat counterpart of the human spinocerebellar ataxia type 1 gene. Hum. Mol. Genet., 5, 381-389.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 381-389
-
-
Gossen, M.1
Schmitt, I.2
Obst, K.3
Wahle, P.4
Epplen, J.T.5
Riess, O.6
-
17
-
-
0029059477
-
Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases
-
Stott, K., Blackburn, J.M., Butler, P.J.G. and Perutz, M. (1995) Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases. Proc. Natl. Acad. Sci. USA, 92, 6509-6513.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 6509-6513
-
-
Stott, K.1
Blackburn, J.M.2
Butler, P.J.G.3
Perutz, M.4
-
18
-
-
0029014180
-
Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals
-
Servadio, A., Koshy, B., Armstrong, D, Anatakfy, 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
Anatakfy, B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
19
-
-
0029092340
-
Expression of the Huntington's disease (IT15) protein product in HD patients
-
Schilling, G., Sharp, A.H., Loev S.J., Wagster, M.V., Li, S.-H., Stine, O.C. and Ross, C.A. (1995) Expression of the Huntington's disease (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
-
20
-
-
0003529274
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sherman, F., Fink, G.R., and Hicks, J.B. (1983) Methods in Yeast Genetics. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1983)
Methods in Yeast Genetics
-
-
Sherman, F.1
Fink, G.R.2
Hicks, J.B.3
-
21
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1989)
Molecular Cloning: A Laboratory Manual
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
22
-
-
0003785155
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Miller, J.H. (1972) Experiments in Molecular Genetics. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1972)
Experiments in Molecular Genetics
-
-
Miller, J.H.1
|