-
1
-
-
0028260436
-
Structure and expression of the Huntington's disease gene: Evidence against simple inactivation due to an expanded CAG repeat
-
Ambrose, C. M., Duyao, M. P., Barnes, G., Bates, G. P., Lin, C. S., Srinidhi, J., Baxendale, S., Hummerich, H., Lehrach, H., Altherr, M., Wasmuth, J., Buckler, A., Church, D., Housman, D., Berks, M., Micklem, G., Durbin, R., Dodge, A., Read, A., Gusella, J., & MacDonald, M. E. (1994) Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. Somat. Cell Mol. Genet. 20, 27-38.
-
(1994)
Somat. Cell Mol. Genet.
, vol.20
, pp. 27-38
-
-
Ambrose, C.M.1
Duyao, M.P.2
Barnes, G.3
Bates, G.P.4
Lin, C.S.5
Srinidhi, J.6
Baxendale, S.7
Hummerich, H.8
Lehrach, H.9
Altherr, M.10
Wasmuth, J.11
Buckler, A.12
Church, D.13
Housman, D.14
Berks, M.15
Micklem, G.16
Durbin, R.17
Dodge, A.18
Read, A.19
Gusella, J.20
MacDonald, M.E.21
more..
-
2
-
-
0028829596
-
CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain
-
Aronin, N., Chase, K., Young, C., Sapp, E., Schwartz, C., Matta, N., Kornreich, R., Landwehrmeyer, B., Bird, E., Beal, M. F., Vonsattel, J.-P., Smith, T., Carraway, R., Boyce, F. M., Young, A. B., Penney, J. B., & DiFiglia, M. (1995) CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain. Neuron 15, 1193-1201.
-
(1995)
Neuron
, vol.15
, pp. 1193-1201
-
-
Aronin, N.1
Chase, K.2
Young, C.3
Sapp, E.4
Schwartz, C.5
Matta, N.6
Kornreich, R.7
Landwehrmeyer, B.8
Bird, E.9
Beal, M.F.10
Vonsattel, J.-P.11
Smith, T.12
Carraway, R.13
Boyce, F.M.14
Young, A.B.15
Penney, J.B.16
DiFiglia, M.17
-
3
-
-
0030610409
-
Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European Pedigrees
-
Becher, M. W., Rubinsztein, D. C., Leggo, J., Wagster, M. V., Stine, O. C., Ranen, N. G., Franz, M. L., Abbott, M. H., Sherr, M., MacMillan, J. C., Barron, L., Porteous, M., Harper, P. S., & Ross, C. A. (1997) Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European Pedigrees. Mov. Disord. 12, 519-530.
-
(1997)
Mov. Disord.
, vol.12
, pp. 519-530
-
-
Becher, M.W.1
Rubinsztein, D.C.2
Leggo, J.3
Wagster, M.V.4
Stine, O.C.5
Ranen, N.G.6
Franz, M.L.7
Abbott, M.H.8
Sherr, M.9
MacMillan, J.C.10
Barron, L.11
Porteous, M.12
Harper, P.S.13
Ross, C.A.14
-
4
-
-
0028169738
-
The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African-American family
-
Burke, J. R., Wingfield, M. S., Lewis, K. E., Roses, A. D., Lee, J. E., Hulette, C., Pericak-Vance, M. A., & Vance, J. M. (1994) The Haw River Syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nature Genet. 7, 521-524.
-
(1994)
Nature Genet.
, vol.7
, pp. 521-524
-
-
Burke, J.R.1
Wingfield, M.S.2
Lewis, K.E.3
Roses, A.D.4
Lee, J.E.5
Hulette, C.6
Pericak-Vance, M.A.7
Vance, J.M.8
-
5
-
-
0014093246
-
Huntington's chorea in children
-
Byers, R. K. & Dodge, J. A. (1967) Huntington's chorea in children. Neurology 17, 587-596.
-
(1967)
Neurology
, vol.17
, pp. 587-596
-
-
Byers, R.K.1
Dodge, J.A.2
-
6
-
-
0030767266
-
Huntingtin-associated protein 1 (HAP1) binds to a trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain
-
Colomer, V., Engelender, S., Sharp, A. H., Duan, K., Cooper, J. K., Lanahan, A., Lyford, G., Worley, P., & Ross, C. A. (1997) Huntingtin-associated protein 1 (HAP1) binds to a trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain. Hum. Mol. Genet., 6, 1519-1529.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1519-1529
-
-
Colomer, V.1
Engelender, S.2
Sharp, A.H.3
Duan, K.4
Cooper, J.K.5
Lanahan, A.6
Lyford, G.7
Worley, P.8
Ross, C.A.9
-
7
-
-
18544410106
-
Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation
-
Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L., & Bates, G. P. (1997) Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell 90, 537-548.
-
(1997)
Cell
, vol.90
, pp. 537-548
-
-
Davies, S.W.1
Turmaine, M.2
Cozens, B.A.3
DiFiglia, M.4
Sharp, A.H.5
Ross, C.A.6
Scherzinger, E.7
Wanker, E.E.8
Mangiarini, L.9
Bates, G.P.10
-
8
-
-
0028989602
-
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
-
DiFiglia, M., Sapp, E., Chase, K., Schwarz, C., Meloni, A., Young, C., Martin, E., Vonsattel, J.-P., Carraway, R., Reeves, S. A., Boyce, F. M., & Aronin, N. (1995) Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14, 1075-1081.
-
(1995)
Neuron
, vol.14
, pp. 1075-1081
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.3
Schwarz, C.4
Meloni, A.5
Young, C.6
Martin, E.7
Vonsattel, J.-P.8
Carraway, R.9
Reeves, S.A.10
Boyce, F.M.11
Aronin, N.12
-
9
-
-
0030752709
-
Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
DiFiglia, M., Sapp, E., Chase, K. O., Davies, S. T., Bates, G. P., Vonsattel, J. P., & Aronin, N. (1997) Aggregation of Huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277, 1990-1993.
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.O.3
Davies, S.T.4
Bates, G.P.5
Vonsattel, J.P.6
Aronin, N.7
-
10
-
-
0030950980
-
Heterogeneous topographic and cellular distribution of Huntingtin expression in the normal human neostriatum
-
Ferrante, R. J., Gutekunst, C-A., Persichetti, E, McNeil, S. M., Kowall, N. W., Gusella, J. F., MacDonald, M. E., Beal, M. E, & Hersch, S. M. (1997) Heterogeneous topographic and cellular distribution of Huntingtin expression in the normal human neostriatum. J. Neurosci. 17, 3052-3063.
-
(1997)
J. Neurosci.
, vol.17
, pp. 3052-3063
-
-
Ferrante, R.J.1
Gutekunst, C.-A.2
Persichetti, E.3
McNeil, S.M.4
Kowall, N.W.5
Gusella, J.F.6
MacDonald, M.E.7
Beal, M.E.8
Hersch, S.M.9
-
12
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg, Y. P., Nicholson, D. W., Rasper, D. M., Kalchman, M. A., Koide, H. B., Graham, R. K., Bromm, M., Kazemi-Esfarjani, P., Thornberry, N. A., Vaillancourt, J. P., & Hayden, M. R. (1996) Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nature Genet. 13, 442-449.
-
(1996)
Nature Genet.
, vol.13
, pp. 442-449
-
-
Goldberg, Y.P.1
Nicholson, D.W.2
Rasper, D.M.3
Kalchman, M.A.4
Koide, H.B.5
Graham, R.K.6
Bromm, M.7
Kazemi-Esfarjani, P.8
Thornberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
13
-
-
0029152808
-
Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies
-
Gutekunst, C-A., Levey, A. I., Heilman, C. J., Whaley, W. L., Yi, H., Nash, N. R., Rees, H. D., Madden, J. J., Hersch, S. M. (1995) Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc. Natl. Acad. Sci. USA 92, 8710-8714.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 8710-8714
-
-
Gutekunst, C.-A.1
Levey, A.I.2
Heilman, C.J.3
Whaley, W.L.4
Yi, H.5
Nash, N.R.6
Rees, H.D.7
Madden, J.J.8
Hersch, S.M.9
-
14
-
-
0025885733
-
Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease
-
Hedreen, J. C., Peyser, C. E., Folstein, S. E., & Ross, C. A. (1991) Neuronal loss in layers V and VI of cerebral cortex in Huntington's disease. Neurosci. Lett. 133, 257-261.
-
(1991)
Neurosci. Lett.
, vol.133
, pp. 257-261
-
-
Hedreen, J.C.1
Peyser, C.E.2
Folstein, S.E.3
Ross, C.A.4
-
15
-
-
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
-
-
-
16
-
-
0029044667
-
Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
-
Ikeuchi, T., Koide, R., Tanaka, H., Onodera, O., Igarashi, S., Takahashi, H., Kondo, R., Ishikawa, A., Tomoda, A., Miike, T., Sato, K., Ihara, Y., Hayabara, T., Isa, F., Tanabe, H., Tokiguchi, S., Hayashi, M., Shimizu, N., Ikuta, F., Naito, H., & Tsuji, S. (1995) Dentatorubral-pallidoluysian atrophy: Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann. Neurol. 37, 769-775.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 769-775
-
-
Ikeuchi, T.1
Koide, R.2
Tanaka, H.3
Onodera, O.4
Igarashi, S.5
Takahashi, H.6
Kondo, R.7
Ishikawa, A.8
Tomoda, A.9
Miike, T.10
Sato, K.11
Ihara, Y.12
Hayabara, T.13
Isa, F.14
Tanabe, H.15
Tokiguchi, S.16
Hayashi, M.17
Shimizu, N.18
Ikuta, F.19
Naito, H.20
Tsuji, S.21
more..
-
17
-
-
0001079168
-
Huntington's chorea in childhood
-
Jervis, G. A. (1963) Huntington's chorea in childhood. Arch. Neurol. 9, 244-257.
-
(1963)
Arch. Neurol.
, vol.9
, pp. 244-257
-
-
Jervis, G.A.1
-
18
-
-
9444239187
-
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
-
Kalchman, M. A., Graham, R. K., Xia, G., Koide, H. B., Hodgson, J. G., Graham, K. C., Goldberg, Y. P., Gietz, R. D., Pickart, C. M., & Hayden, M. R. (1996) Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J. Biol. Chem. 271, 19385-19394.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 19385-19394
-
-
Kalchman, M.A.1
Graham, R.K.2
Xia, G.3
Koide, H.B.4
Hodgson, J.G.5
Graham, K.C.6
Goldberg, Y.P.7
Gietz, R.D.8
Pickart, C.M.9
Hayden, M.R.10
-
19
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA)
-
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., Saito, M., Tomoda, A., Miike, T., Naito, H., Ikuta, F., & Tsuji, S. (1994) Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian 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
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
20
-
-
0028080406
-
Trinucleotide repeat expansion in neurological disease
-
La Spada, A. R., Paulson, H. L., & Fischbeck, K. H. (1994) Trinucleotide repeat expansion in neurological disease. Ann. Neural. 36, 814-822.
-
(1994)
Ann. Neural.
, vol.36
, pp. 814-822
-
-
La Spada, A.R.1
Paulson, H.L.2
Fischbeck, K.H.3
-
21
-
-
0027484673
-
Huntington's disease gene (IT15) is widely expressed in human and rat tissues
-
Li, S.-H., Schilling, G., Young, W. S., III, Li, X.-J., Margolis, R. L., Stine, O. C., Wagster, M. V., Abbott, M. H., Franz, M. L., Ranen, N. G., Folstein, S. E., Hedreen, J. C., & Ross, C. A. (1993) Huntington's disease gene (IT15) is widely expressed in human and rat tissues. Neuron 11, 985-993.
-
(1993)
Neuron
, vol.11
, pp. 985-993
-
-
Li, S.-H.1
Schilling, G.2
Young III, W.S.3
Li, X.-J.4
Margolis, R.L.5
Stine, O.C.6
Wagster, M.V.7
Abbott, M.H.8
Franz, M.L.9
Ranen, N.G.10
Folstein, S.E.11
Hedreen, J.C.12
Ross, C.A.13
-
22
-
-
0030273702
-
Huntington's disease: Translating a CAG repeat into a pathogenic mechanism
-
MacDonald, M. E. & Gusella, J. F. (1996) Huntington's disease: translating a CAG repeat into a pathogenic mechanism. Curr. Opin. Neurobiol. 6, 638-643.
-
(1996)
Curr. Opin. Neurobiol.
, vol.6
, pp. 638-643
-
-
MacDonald, M.E.1
Gusella, J.F.2
-
23
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., & Bates, G. P. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493-506.
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
Bates, G.P.11
-
24
-
-
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., Tadokoro, K., Kondo, I., Murayama, N., Tanaka, Y., Kikushima, H., Umino, K., Kurosawa, H., Furukawa, T., Nihei, K., Inoue, T., Sano, A., Komure, O., Takahashi, M., Yoshizawa, T., Kanazawa, I., & Yamada, M. (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
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
25
-
-
0030848204
-
Clinical aspects of CAG repeat diseases
-
Nance, M. A. (1997) Clinical aspects of CAG repeat diseases. Brain Pathol. 7, 881-900.
-
(1997)
Brain Pathol.
, vol.7
, pp. 881-900
-
-
Nance, M.A.1
-
26
-
-
0028927926
-
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy
-
Norremolle, A., Nielsen, J. E., Sorensen, S. A., & Hasholt, L. (1995) Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy. Hum. Genet. 95, 313-318.
-
(1995)
Hum. Genet.
, vol.95
, pp. 313-318
-
-
Norremolle, A.1
Nielsen, J.E.2
Sorensen, S.A.3
Hasholt, L.4
-
27
-
-
0030850412
-
Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3
-
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J.-L., Fischbeck, K. H., & Pittman, R. N. (1997) Intranuclear inclusions of expanded polyglutamine protein in spinocerebellar ataxia type 3. Neuron 19, 333-344.
-
(1997)
Neuron
, vol.19
, pp. 333-344
-
-
Paulson, H.L.1
Perez, M.K.2
Trottier, Y.3
Trojanowski, J.Q.4
Subramony, S.H.5
Das, S.S.6
Vig, P.7
Mandel, J.-L.8
Fischbeck, K.H.9
Pittman, R.N.10
-
28
-
-
0027988041
-
Polar zippers: Their role in human disease
-
Perutz, M. (1994) Polar zippers: Their role in human disease. Protein Sci. 3, 1629-1637.
-
(1994)
Protein Sci.
, vol.3
, pp. 1629-1637
-
-
Perutz, M.1
-
29
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz, M. F., Johnson, T., Suzuki, M., & Finch, J. T. (1994) Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. USA 91, 5355-5358.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 5355-5358
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
30
-
-
0025283203
-
Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration
-
Pfeiffer, R. F. & McComb, R. D. (1990) Dentatorubro-pallidoluysian atrophy of the myoclonus epilepsy type with posterior column degeneration. Mov. Disord. 5, 134-138.
-
(1990)
Mov. Disord.
, vol.5
, pp. 134-138
-
-
Pfeiffer, R.F.1
McComb, R.D.2
-
31
-
-
0028797080
-
Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy
-
Potter, N. T., Meyer, M. A., Zimmerman, A. W., Eisenstadt, M. L., & Anderson, I. J. (1995) Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann. Neurol. 37, 273-277.
-
(1995)
Ann. Neurol.
, vol.37
, pp. 273-277
-
-
Potter, N.T.1
Meyer, M.A.2
Zimmerman, A.W.3
Eisenstadt, M.L.4
Anderson, I.J.5
-
32
-
-
0030847065
-
The neuropathology of CAG repeat diseases: Review and update of genetic and molecular features
-
Robitaille, Y., Lopes-Cendes, I., Becher, M., Rouleau, G., & Clark, A. W. (1997) The neuropathology of CAG repeat diseases: Review and update of genetic and molecular features. Brain Pathol. 7, 901-926.
-
(1997)
Brain Pathol.
, vol.7
, pp. 901-926
-
-
Robitaille, Y.1
Lopes-Cendes, I.2
Becher, M.3
Rouleau, G.4
Clark, A.W.5
-
33
-
-
0019455846
-
Cerebellar atrophy in Huntington's disease
-
Rodda, R. A. (1981) Cerebellar atrophy in Huntington's disease. J. Neurol. Sci. 50, 147-157.
-
(1981)
J. Neurol. Sci.
, vol.50
, pp. 147-157
-
-
Rodda, R.A.1
-
34
-
-
9444298025
-
Neuropathologic observations in Huntington's chorea
-
H. M. Zimmerman, Ed. Grune & Stratton, New York
-
Roizin, L., Kaufman, M. A., Willson, N., Stellar, S., & Liu, J. C. (1976) Neuropathologic observations in Huntington's chorea. In Progress in Neuropathology III (H. M. Zimmerman, Ed.), pp. 447-488. Grune & Stratton, New York.
-
(1976)
Progress in Neuropathology III
, pp. 447-488
-
-
Roizin, L.1
Kaufman, M.A.2
Willson, N.3
Stellar, S.4
Liu, J.C.5
-
35
-
-
0029089172
-
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
-
Ross, C. A. (1995) When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15, 493-496.
-
(1995)
Neuron
, vol.15
, pp. 493-496
-
-
Ross, C.A.1
-
36
-
-
0030741184
-
Huntington's disease and dentatorubralpallidoluysian atrophy: Proteins, pathogenesis and pathology
-
Ross, C. A., Becher, M. W., Colomer, V., Engelender, S., Wood, J. D., & Sharp, A. H. (1997a) Huntington's disease and dentatorubralpallidoluysian atrophy: Proteins, pathogenesis and pathology. Brain Pathol. 7, 1003-1016.
-
(1997)
Brain Pathol.
, vol.7
, pp. 1003-1016
-
-
Ross, C.A.1
Becher, M.W.2
Colomer, V.3
Engelender, S.4
Wood, J.D.5
Sharp, A.H.6
-
37
-
-
0030868770
-
Reviews in molecular medicine: Huntington disease and the related disorder, dentatorubralpallidoluysian atrophy (DRPLA)
-
Ross, C. A., Margolis, R. L., Rosenblatt, A., Ranen, N. G., Becher, M. W., & Aylward, E. (1997) Reviews in molecular medicine: Huntington disease and the related disorder, dentatorubralpallidoluysian atrophy (DRPLA). Medicine 76, 305-338.
-
(1997)
Medicine
, vol.76
, pp. 305-338
-
-
Ross, C.A.1
Margolis, R.L.2
Rosenblatt, A.3
Ranen, N.G.4
Becher, M.W.5
Aylward, E.6
-
38
-
-
18544400323
-
Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo
-
Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., & Wanker, E. E. (1997) Huntingtin-encoded polyglutamine expansions form amyloid-like protein aggregates in vitro and in vivo. Cell 90, 549-558.
-
(1997)
Cell
, vol.90
, pp. 549-558
-
-
Scherzinger, E.1
Lurz, R.2
Turmaine, M.3
Mangiarini, L.4
Hollenbach, B.5
Hasenbank, R.6
Bates, G.P.7
Davies, S.W.8
Lehrach, H.9
Wanker, E.E.10
-
39
-
-
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., & 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
-
40
-
-
0029034511
-
Widespread expression of the Huntington's disease gene (IT-15) protein product
-
Sharp, A. H., Loev, S. J., Schilling, G., Li, S.-H., Li, X.-J., Bao, J., Wagster, M. V., Kotzuk, 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 the Huntington's disease gene (IT-15) 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
Kotzuk, 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
-
41
-
-
0029991245
-
Neurobiology of Huntington's disease
-
Sharp, A. H. & Ross, C. A. (1996) Neurobiology of Huntington's disease. Neurobiol. Dis. 3, 3-15.
-
(1996)
Neurobiol. Dis.
, vol.3
, pp. 3-15
-
-
Sharp, A.H.1
Ross, C.A.2
-
42
-
-
0030666001
-
Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated strauctures
-
Skinner, P. J., Koshy, B., Cummings, C. J., Klement, I. A., Helin, K., Servadio, A., Zoghbi, H. Y., & Orr, H. T. (1997) Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated strauctures. Nature 389: 971-974.
-
(1997)
Nature
, vol.389
, pp. 971-974
-
-
Skinner, P.J.1
Koshy, B.2
Cummings, C.J.3
Klement, I.A.4
Helin, K.5
Servadio, A.6
Zoghbi, H.Y.7
Orr, H.T.8
-
43
-
-
0001294843
-
Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-Luysian degeneration
-
Smith, J. K., Gonda, V. E., & Malamud, N. (1958) Unusual form of cerebellar ataxia. Combined dentato-rubral and pallido-Luysian degeneration. Neurology 8, 205-209.
-
(1958)
Neurology
, vol.8
, pp. 205-209
-
-
Smith, J.K.1
Gonda, V.E.2
Malamud, N.3
-
44
-
-
0026012447
-
Morphometric analysis of the prefrontal cortex in Huntington's disease
-
Sotrel, A., Paskevich, P. A., Kiely, D. K., Bird, E. D., Williams, R. S., & Myers, R. H. (1991) Morphometric analysis of the prefrontal cortex in Huntington's disease. Neurology 41, 1117-1123.
-
(1991)
Neurology
, vol.41
, pp. 1117-1123
-
-
Sotrel, A.1
Paskevich, P.A.2
Kiely, D.K.3
Bird, E.D.4
Williams, R.S.5
Myers, R.H.6
-
45
-
-
0027377151
-
Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15
-
Stine, O. C., Pleasant, N., Franz, M. L., Abbott, M. H., Folstein, S. E., & Ross, C. A. (1993) Correlation between the onset age of Huntington's disease and length of the trinucleotide repeat in IT-15. Hum. Mol. Genet. 2, 1547-1549.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1547-1549
-
-
Stine, O.C.1
Pleasant, N.2
Franz, M.L.3
Abbott, M.H.4
Folstein, S.E.5
Ross, C.A.6
-
46
-
-
0029059477
-
Incorporation of glutamine repeats makes protein oligomerize: Implications for neurodegenerative diseases
-
Stott, K., Blackburn, J. M., Butler, P. J. GP. J., & 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.P.J.3
Perutz, M.4
-
47
-
-
0023680089
-
Hereditary dentatorubralpallidoluysian atrophy: Clinical and pathologic variants in a family
-
Takahashi, H., Ohama, E., Naito, H., Takeda, S., Nakashima, S., Makifuchi, T., & Ikuta, F. (1988) Hereditary dentatorubralpallidoluysian atrophy: Clinical and pathologic variants in a family. Neurology 38, 1065-1070.
-
(1988)
Neurology
, vol.38
, pp. 1065-1070
-
-
Takahashi, H.1
Ohama, E.2
Naito, H.3
Takeda, S.4
Nakashima, S.5
Makifuchi, T.6
Ikuta, F.7
-
48
-
-
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., & Mandel, J.-L. (1995a) 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
-
49
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier, Y., Lutz, Y., Stevanin, G., Imbert, G., Devys, D., Cancel, G., Saudou, F., Weber, C., David, G., Tora, L., Agid, Y., Brice, A., & Mandel, J. L. (1995b) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406.
-
(1995)
Nature
, vol.378
, pp. 403-406
-
-
Trottier, Y.1
Lutz, Y.2
Stevanin, G.3
Imbert, G.4
Devys, D.5
Cancel, G.6
Saudou, F.7
Weber, C.8
David, G.9
Tora, L.10
Agid, Y.11
Brice, A.12
Mandel, J.L.13
-
50
-
-
0022395922
-
Neuropathological classification of Huntington's disease
-
Vonsattel, J.-P., Myers, R. H., Stevens, T. J., Ferrante, R. J., Bird, E. D., & Richardson, E. P., Jr. (1985) Neuropathological classification of Huntington's disease. J. Neuropathol. Exp. Neurol. 44, 559-577.
-
(1985)
J. Neuropathol. Exp. Neurol.
, vol.44
, pp. 559-577
-
-
Vonsattel, J.-P.1
Myers, R.H.2
Stevens, T.J.3
Ferrante, R.J.4
Bird, E.D.5
Richardson Jr., E.P.6
-
51
-
-
0028213984
-
Autosomal-dominant Dentatorubropallidoluysian atrophy in the United Kingdom
-
Warner, T. T., Lennox, G. G., Janota, I., & Harding, A. E. (1994) Autosomal-dominant Dentatorubropallidoluysian atrophy in the United Kingdom. Mov. Disord. 9, 289-296.
-
(1994)
Mov. Disord.
, vol.9
, pp. 289-296
-
-
Warner, T.T.1
Lennox, G.G.2
Janota, I.3
Harding, A.E.4
-
52
-
-
0029921128
-
The expanding world of trinucleotide repeats
-
Warren, S. T. (1996) The expanding world of trinucleotide repeats. Science 271, 1374-1375.
-
(1996)
Science
, vol.271
, pp. 1374-1375
-
-
Warren, S.T.1
|