-
1
-
-
0030001072
-
Expansion of polyglutamine repeat in huntingtin leads to abnormal interactions involving calmodulin
-
Bao, J., A.H. Sharp, M.V. Wagster, M. Becher, G. Schilling, C.A. Ross, V.L. Dawson, and T.M. Dawson. 1996. Expansion of polyglutamine repeat in huntingtin leads to abnormal interactions involving calmodulin. Proc. Natl. Acad. Sci. 93: 5037.
-
(1996)
Proc. Natl. Acad. Sci.
, vol.93
, pp. 5037
-
-
Bao, J.1
Sharp, A.H.2
Wagster, M.V.3
Becher, M.4
Schilling, G.5
Ross, C.A.6
Dawson, V.L.7
Dawson, T.M.8
-
2
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar, A., L. Krols, O. Stevanin, G. Cancel, E. Leguern, G. David, H. Ouhabi, J.J. Martin, A. Durr, A. Zaim, N. Ravise, C. Busque, C. Penet, N. Vanregemorter, J. Weissenbach, M. Yahyaoui, T. Chkili, Y. Agid, C. Vanbroeckhoven, and A. Brice. 1995. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat. Genet. 10: 84.
-
(1995)
Nat. Genet.
, vol.10
, pp. 84
-
-
Benomar, A.1
Krols, L.2
Stevanin, O.3
Cancel, G.4
Leguern, E.5
David, G.6
Ouhabi, H.7
Martin, J.J.8
Durr, A.9
Zaim, A.10
Ravise, N.11
Busque, C.12
Penet, C.13
Vanregemorter, N.14
Weissenbach, J.15
Yahyaoui, M.16
Chkili, T.17
Agid, Y.18
Vanbroeckhoven, C.19
Brice, A.20
more..
-
3
-
-
0029129227
-
Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease
-
Brooks, B.P. and K.H. Fischbeck. 1995. Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 18: 459.
-
(1995)
Trends Neurosci.
, vol.18
, pp. 459
-
-
Brooks, B.P.1
Fischbeck, K.H.2
-
4
-
-
0029664992
-
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
-
Burke, J.R., J.J. Enghild, M.E. Martin, Y.S. Jou, R.M. Myers, A.D. Roses, J.M. Vance, and W.J. Strittmatter. 1996. Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med. 2: 347.
-
(1996)
Nature Med.
, vol.2
, pp. 347
-
-
Burke, J.R.1
Enghild, J.J.2
Martin, M.E.3
Jou, Y.S.4
Myers, R.M.5
Roses, A.D.6
Vance, J.M.7
Strittmatter, W.J.8
-
5
-
-
0029163222
-
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
-
Burright, E.N., H.B. Clark, A. Servadio, T. Matilla, R.M. Feddersen, W.S. Yunis, L.A. Duvick, H.Y. Zoghbi, and H.T. Orr. 1995. SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 82: 937.
-
(1995)
Cell
, vol.82
, pp. 937
-
-
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
-
6
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., L. Montermini, M.D. Molto, L. Pianese, M. Cossee, F. Cavalcanti, E. Monros, F. Rodius, F. Duclos, A. Monticelli, F. Zara, J. Canizares, H. Koutnikova, S.I. Bidichandani, C. Gellera, A. Brice, P. Trouillas, G. De Michele, A. Filla, R. De Frutos, P. Francisco, P.I. Patel, S. Di Donato, J.-L. Mandel, S. Cocozza, M. Koenig, and M. Pandolfo. 1996. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423.
-
(1996)
Science
, vol.271
, pp. 1423
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Francisco, P.21
Patel, P.I.22
Di Donato, S.23
Mandel, J.-L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
7
-
-
0028220405
-
Trinucleotide repeats in neurologic diseases: An hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I
-
Cha, J.H. and L.S. Dure. 1994. Trinucleotide repeats in neurologic diseases: An hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. Life Sci. 54: 1459.
-
(1994)
Life Sci.
, vol.54
, pp. 1459
-
-
Cha, J.H.1
Dure, L.S.2
-
8
-
-
0028033594
-
The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function
-
Chamberlain, N.L., E.D. Driver, and R.L. Miesfeld. 1994. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 22: 3181.
-
(1994)
Nucleic Acids Res.
, vol.22
, pp. 3181
-
-
Chamberlain, N.L.1
Driver, E.D.2
Miesfeld, R.L.3
-
9
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong, S.S., A.E. McCall, J. Cota, S.H. Subramony, H.T. Orr, M.R. Hughes, and H.Y. Zoghbi. 1995. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 10: 344.
-
(1995)
Nat. Genet.
, vol.10
, pp. 344
-
-
Chong, S.S.1
McCall, A.E.2
Cota, J.3
Subramony, S.H.4
Orr, H.T.5
Hughes, M.R.6
Zoghbi, H.Y.7
-
10
-
-
0028989602
-
Huntingtin is a cytoplasmic protein associated with vesicules in human and rat brain neurons
-
DiFiglia, M., E. Sapp, K. Chase, C. Schwarz, A. Meloni, C. Young, E. Martin, J.-P. Vonsattel, R. Carraway, S.A. Reeves, F.M. Boyce, and N. Aronin. 1995. Huntingtin is a cytoplasmic protein associated with vesicules in human and rat brain neurons. Neuron 14: 1075.
-
(1995)
Neuron
, vol.14
, pp. 1075
-
-
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
-
11
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Dürr, A., G. Stevanin, G. Cancel, C. Duyckaerts, N. Abbas, O. Didierjean, H. Chneiweiss, Ali. Benomar, and O. LyonCaen. 1996. Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features. Ann Neurol. 39: 490.
-
(1996)
Ann Neurol.
, vol.39
, pp. 490
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
Chneiweiss, H.7
Benomar, A.8
Lyoncaen, O.9
-
12
-
-
23444458415
-
Transcriptional activation modulated by homopolymeric glutamine and proline stretches
-
Gerber, H.P., K. Seipel, O. Georgiev, M. Hofferer, M. Hug, S. Rusconi, and W. Schaffner. 1994. Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263: 808.
-
(1994)
Science
, vol.263
, pp. 808
-
-
Gerber, H.P.1
Seipel, K.2
Georgiev, O.3
Hofferer, M.4
Hug, M.5
Rusconi, S.6
Schaffner, W.7
-
13
-
-
0027162192
-
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1
-
Gispert, S., R. Twells, G. Orozco, A. Brice, J. Weber, L. Heredero, K. Scheufler, B. Riley, R. Allotey, C. Nothers, R. Hillermann, A. Lunkes, C. Khati, G. Stevanin, A. Hernandez, C. Magarino, T. Klockgether, A. Durr, H. Chneiweiss, J. Enczmann, M. Farrall, J. Beckmann, M. Mullan, P. Wernet, Y. Agid, H.-J. Freund, R. Williamson, G. Auburger, and S. Chamberlain. 1993. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat. Genet. 4: 295.
-
(1993)
Nat. Genet.
, vol.4
, pp. 295
-
-
Gispert, S.1
Twells, R.2
Orozco, G.3
Brice, A.4
Weber, J.5
Heredero, L.6
Scheufler, K.7
Riley, B.8
Allotey, R.9
Nothers, C.10
Hillermann, R.11
Lunkes, A.12
Khati, C.13
Stevanin, G.14
Hernandez, A.15
Magarino, C.16
Klockgether, T.17
Durr, A.18
Chneiweiss, H.19
Enczmann, J.20
Farrall, M.21
Beckmann, J.22
Mullan, M.23
Wernet, P.24
Agid, Y.25
Freund, H.-J.26
Williamson, R.27
Auburger, G.28
Chamberlain, S.29
more..
-
14
-
-
9344227302
-
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
-
Goldberg, Y.P., D.W. Nicholson, D.M. Rasper, M.A. Kalchman, H.B. Koide, R.K. Graham, M. Bromm, P. KazemiEsfarjani, N.A. Thomberry, J.P. Vaillancourt, and M.R. Hayden. 1996. Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat. Genet 13: 442.
-
(1996)
Nat. Genet
, vol.13
, pp. 442
-
-
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
Kazemiesfarjani, P.8
Thomberry, N.A.9
Vaillancourt, J.P.10
Hayden, M.R.11
-
15
-
-
0027445452
-
"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes
-
Gostout, B., Q. Liu, and S.S. Sommer. 1993. "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: Analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am. J. Hum. Genet. 52: 1182.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 1182
-
-
Gostout, B.1
Liu, Q.2
Sommer, S.S.3
-
16
-
-
0027507667
-
Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
-
Green, H. 1993. Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism [letter]. Cell 74: 955.
-
(1993)
Cell
, vol.74
, pp. 955
-
-
Green, H.1
-
17
-
-
0029152808
-
Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies
-
Gutekunst, C.A., A.I. Levey, C.J. Heilman, W.L. Whaley, H. Yi, N.R. Nash, H.D. Rees, J.J. Madden, and S.M. Hersch. 1995. Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. Proc. Natl. Acad. Sci. 92: 8710.
-
(1995)
Proc. Natl. Acad. Sci.
, vol.92
, pp. 8710
-
-
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
-
18
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
-
Holmberg, M., J. Johansson, L. Forsgren, J. Heijbel, O. Sandgren, and G. Holmgren. 1995. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum. Mol. Genet. 4: 1441.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1441
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, L.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
19
-
-
2442761245
-
Imergenerational instability of the CAG repeat of the gene for Machado-Joseph (MJD1) is affected by the genotype of normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat
-
Igaraschi, S., Y. Takiyama, G. Cancel, EA. Rogaeva, H. Sasaki, A. Wakisaka, and Y.X. Zhou. 1996. Imergenerational instability of the CAG repeat of the gene for Machado-Joseph (MJD1) is affected by the genotype of normal chromosome: Implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5: 923.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 923
-
-
Igaraschi, S.1
Takiyama, Y.2
Cancel, G.3
Rogaeva, E.A.4
Sasaki, H.5
Wakisaka, A.6
Zhou, Y.X.7
-
20
-
-
0030058208
-
Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo
-
Ikeda, H., M. Yamaguchi, S. Sugai, Y. Aze, S. Narumiya, and A. Kakizuka. 1996. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nat. Genet. 13: 196.
-
(1996)
Nat. Genet.
, vol.13
, pp. 196
-
-
Ikeda, H.1
Yamaguchi, M.2
Sugai, S.3
Aze, Y.4
Narumiya, S.5
Kakizuka, A.6
-
21
-
-
0028291079
-
The gene for the TATA-binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27
-
Imbert, G., Y. Trottier, J. Beckman, and J.-L. Mandel. 1994. The gene for the TATA-binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27. Genomics 21: 667.
-
(1994)
Genomics
, vol.21
, pp. 667
-
-
Imbert, G.1
Trottier, Y.2
Beckman, J.3
Mandel, J.-L.4
-
22
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats and high instability
-
Imbert, G., F. Saudou, G. Yvert, D. Devys, Y. Trottier, J.M. Garnier, C. Weber, J.L. Mandel, G. Cancel, N. Abbas, A. Dürr, O. Didierjean, G. Stevanin, Y. Agid, and A. Brice. 1996. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats and high instability. Nat. Genet. 14: 285.
-
(1996)
Nat. Genet.
, vol.14
, pp. 285
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Dürr, A.11
Didierjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
23
-
-
0028827297
-
Characterization of four novel CAG repeat-containing cDN As
-
Jiang, J.-X., R. Lekanne Deprez, E. Zwarthoff, and P. Riegman. 1995. Characterization of four novel CAG repeat-containing cDN As. Genomics 30: 91.
-
(1995)
Genomics
, vol.30
, pp. 91
-
-
Jiang, J.-X.1
Lekanne Deprez, R.2
Zwarthoff, E.3
Riegman, P.4
-
24
-
-
0028922314
-
Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: Possible pathogenetic relevance for the (CAG)(n)-expanded neuronopathies
-
Kazemi-Esfarjani, P., M.A. Trifiro, and L. Pinsky. 1995. Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: Possible pathogenetic relevance for the (CAG)(n)-expanded neuronopathies. Hum. Mol. Genet. 4: 523.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 523
-
-
Kazemi-Esfarjani, P.1
Trifiro, M.A.2
Pinsky, L.3
-
25
-
-
0029833062
-
Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase
-
Koshy, B., T. Matilla, E.N. Burright, D.E. Merry, K.H. Fischbeck, H.T. Orr, and H.Y. Zoghbi. 1996. Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum. Mol. Genet. 5: 1311.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1311
-
-
Koshy, B.1
Matilla, T.2
Burright, E.N.3
Merry, D.E.4
Fischbeck, K.H.5
Orr, H.T.6
Zoghbi, H.Y.7
-
26
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada, A.R., E.M. Wilson, D.B. Lubahn, A.E. Harding, and K.H. Fischbeck. 1991. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77.
-
(1991)
Nature
, vol.352
, pp. 77
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
27
-
-
0029864225
-
Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
-
Lerer, I., D. Merims, D. Abeliovich, J. Zlotogora, and N. Gadoth. 1996. Machado-Joseph disease: Correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur. J. Hum. Genet 4: 3.
-
(1996)
Eur. J. Hum. Genet
, vol.4
, pp. 3
-
-
Lerer, I.1
Merims, D.2
Abeliovich, D.3
Zlotogora, J.4
Gadoth, N.5
-
28
-
-
0028178522
-
The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters
-
Lescure, A., Y. Lutz, D. Eberhard, X. Jacq, A. Krol, I. Grummt, I Davidson, P. Chambon, and L. Tora. 1995. The N-terminal domain of the human TATA-binding protein plays a role in transcription from TATA-containing RNA polymerase II and III promoters. EMBO J 13: 1166.
-
(1995)
EMBO J
, vol.13
, pp. 1166
-
-
Lescure, A.1
Lutz, Y.2
Eberhard, D.3
Jacq, X.4
Krol, A.5
Grummt, I.6
Davidson, I.7
Chambon, P.8
Tora, L.9
-
29
-
-
0027297703
-
Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms
-
Li, S.H., M.G. McInnis, R.L. Margolis, S.E. Antonarakis, and CA. Ross. 1993. Novel triplet repeat containing genes in human brain: Cloning, expression, and length polymorphisms. Genomes 16: 572.
-
(1993)
Genomes
, vol.16
, pp. 572
-
-
Li, S.H.1
McInnis, M.G.2
Margolis, R.L.3
Antonarakis, S.E.4
Ross, C.A.5
-
30
-
-
0029899868
-
Huntingtin associated protein (HAP1): Discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase
-
Li, X.J., A.H. Sharp, S.H. Li, T.M. Dawson, S.H. Snyder, and CA. Ross. 1996. Huntingtin associated protein (HAP1): Discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase. Proc. Natl. Acad. Sci. 93: 4839.
-
(1996)
Proc. Natl. Acad. Sci.
, vol.93
, pp. 4839
-
-
Li, X.J.1
Sharp, A.H.2
Li, S.H.3
Dawson, T.M.4
Snyder, S.H.5
Ross, C.A.6
-
31
-
-
0028803757
-
A huntingtin-associated protein enriched in brain with implications for pathology
-
Li, X.J., S.H. Li, A.H. Sharp, F.C. Nucifora, Jr., G. Schilling, A. Lanahan, P. Worley, S.H. Snyder, and C.A. Ross. 1995. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378: 398.
-
(1995)
Nature
, vol.378
, pp. 398
-
-
Li, X.J.1
Li, S.H.2
Sharp, A.H.3
Nucifora Jr., F.C.4
Schilling, G.5
Lanahan, A.6
Worley, P.7
Snyder, S.H.8
Ross, C.A.9
-
32
-
-
0025826947
-
Synaptophysin is sorted from endocytotic markers in neuroendocrine PC12 cells but not transfected fibroblasts
-
Linstedt, A.D. and R.B. Kelly. 1991. Synaptophysin is sorted from endocytotic markers in neuroendocrine PC12 cells but not transfected fibroblasts. Neuron 7: 309.
-
(1991)
Neuron
, vol.7
, pp. 309
-
-
Linstedt, A.D.1
Kelly, R.B.2
-
33
-
-
0027491810
-
Anticipation in bipolar affective disorder
-
McInnis, M.G., F.J. McMahon, G.A. Chase, S.G. Simpson, C.A. Ross, and J.R. De Paulo, Jr. 1993. Anticipation in bipolar affective disorder [see comments). Am. J. Hum. Genet. 53: 385.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 385
-
-
McInnis, M.G.1
McMahon, F.J.2
Chase, G.A.3
Simpson, S.G.4
Ross, C.A.5
De Paulo Jr., J.R.6
-
34
-
-
8944262197
-
Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders
-
Neri, C., V. Albanese, A.S. Lehre, S. Holbert, C. Saada, L. Bougueleret, S. Meier-Ewert, I. LeGall, P. Millasseau, H. Bui, C. Giudicelli, C. Massart, and S. Guillou. 1996. Survey of CAG/CTG repeats in human cDNAs representing new genes: Candidates for inherited neurological disorders. Hum. Mol. Genet. 5: 1001.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1001
-
-
Neri, C.1
Albanese, V.2
Lehre, A.S.3
Holbert, S.4
Saada, C.5
Bougueleret, L.6
Meier-Ewert, S.7
Legall, I.8
Millasseau, P.9
Bui, H.10
Giudicelli, C.11
Massart, C.12
Guillou, S.13
-
35
-
-
0029968460
-
Trinucleotide repeats in neurogenetic disorders
-
Paulson, H.L. and K.H. Fischbeck. 1996. Trinucleotide repeats in neurogenetic disorders. Annu. Rev. Neurosci. 19: 79.
-
(1996)
Annu. Rev. Neurosci.
, vol.19
, pp. 79
-
-
Paulson, H.L.1
Fischbeck, K.H.2
-
36
-
-
0028283985
-
Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
-
Perutz, M.F., T. Johnson, M. Suzuki, and J.T. Finch. 1994. Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases. Proc. Natl. Acad. Sci. 91: 5355.
-
(1994)
Proc. Natl. Acad. Sci.
, vol.91
, pp. 5355
-
-
Perutz, M.F.1
Johnson, T.2
Suzuki, M.3
Finch, J.T.4
-
37
-
-
0029089172
-
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
-
Ross, C. 1995. When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases. Neuron 15: 493.
-
(1995)
Neuron
, vol.15
, pp. 493
-
-
Ross, C.1
-
38
-
-
0027300219
-
Genes with triplets: Candidate mediators of neuropsychiatric disorders
-
Ross, C.A., M.G. McInnis, R.L. Margolis, and S.-H. Li. 1993. Genes with triplets: Candidate mediators of neuropsychiatric disorders. Trends Neurosci. 16: 254.
-
(1993)
Trends Neurosci.
, vol.16
, pp. 254
-
-
Ross, C.A.1
McInnis, M.G.2
Margolis, R.L.3
Li, S.-H.4
-
39
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubralpallidoluysian atrophy?
-
Sato, K., K. Kashihara, S. Okada, T. Ikeuchi, S. Tsuji, T. Shomori, K. Morimoto, and T. Hayabara. 1995. Does homozygosity advance the onset of dentatorubralpallidoluysian atrophy? Neurology 45: 1934.
-
(1995)
Neurology
, vol.45
, pp. 1934
-
-
Sato, K.1
Kashihara, K.2
Okada, S.3
Ikeuchi, T.4
Tsuji, S.5
Shomori, T.6
Morimoto, K.7
Hayabara, T.8
-
40
-
-
0029034511
-
Widespread expression of Huntington's disease gene (IT15) protein product
-
Sharp, A.H., S.J. Loev, G. Schilling, S.H. Li, X.J. Li, J. Bao, M.V. Wagster, J.A. Kotzuk, J.P. Steiner, A. Lo, J. Hedreen, S. Sisodia, S.H. Snyder, T.M. Dawson, D.K. Ryugo, and C.A. Ross. 1995. Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14: 1065.
-
(1995)
Neuron
, vol.14
, pp. 1065
-
-
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
-
-
0028171626
-
Expression of the alpha-subunit of giycoprotein hormones in the pars tuberalis-specific glandular cells in rat, mouse and guinea-pig
-
Stoeckel, M.E., C. Hindelang, M.J. Klein, M. Poissonnier, and J.M. Felix. 1994. Expression of the alpha-subunit of giycoprotein hormones in the pars tuberalis-specific glandular cells in rat, mouse and guinea-pig. Cell Tissue Res. 278: 617.
-
(1994)
Cell Tissue Res.
, vol.278
, pp. 617
-
-
Stoeckel, M.E.1
Hindelang, C.2
Klein, M.J.3
Poissonnier, M.4
Felix, J.M.5
-
42
-
-
0029059477
-
Incorporation of glutamine repeats makes protein oligomerize: Implication for neurodegenerative diseases
-
Stott, K., J.M. Blackburn, P.J.G. Butler, and M. Perutz. 1995. Incorporation of glutamine repeats makes protein oligomerize: Implication for neurodegenerative diseases. Proc. Natl. Acad. Sci. 92: 6509.
-
(1995)
Proc. Natl. Acad. Sci.
, vol.92
, pp. 6509
-
-
Stott, K.1
Blackburn, J.M.2
Butler, P.J.G.3
Perutz, M.4
-
43
-
-
0029009456
-
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
-
Takiyama, Y., S. Igarashi, E.A. Rogaeva, K. Endo, E.I. Rogaev, H. Tanaka, R. Sherrington, K. Sanpei, Y. Liang, M. Saito, T. Tsuda, H. Takano, M. Ikeda, C. Lin, H. Chi, J.L. Kennedy, A.E. Lang, J.R. Wherrett, M. Segawa, Y. Nomura, T. Yuasa, J. Weissenbach, M. Yoshida, M. Nishizawa, K.K. Kidd, S. Tsuji, and P.H. St. George-Hyslop. 1995. Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum. Mol. Genet. 4: 1137.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1137
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.I.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
Tsuda, T.11
Takano, H.12
Ikeda, M.13
Lin, C.14
Chi, H.15
Kennedy, J.L.16
Lang, A.E.17
Wherrett, J.R.18
Segawa, M.19
Nomura, Y.20
Yuasa, T.21
Weissenbach, J.22
Yoshida, M.23
Nishizawa, M.24
Kidd, K.K.25
Tsuji, S.26
St George-Hyslop, P.H.27
more..
-
44
-
-
0028339385
-
Somatic and gonodal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius, H., B. Kremer, Y.P. Goldberg, J. Theilmann, S.E. Andrew, J. Zeisler, S. Adam, C. Greeberg, E.J. Ives, L.A. Clarke, and M.R. Hayden. 1994. Somatic and gonodal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat. Genet. 6: 409.
-
(1994)
Nat. Genet.
, vol.6
, pp. 409
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greeberg, C.8
Ives, E.J.9
Clarke, L.A.10
Hayden, M.R.11
-
45
-
-
0029055601
-
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
-
Trottier, Y., D. Devys, G. Imbert, F. Saudou, I. An, Y. Lutz, C. Weber, Y. Agid, E.C. Hirsch, and J.L. Mandel. 1995a. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat. Genet. 10: 104.
-
(1995)
Nat. Genet.
, vol.10
, pp. 104
-
-
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
-
46
-
-
0028972448
-
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
-
Trottier, Y., Y. Lutz, G. Stevanin, G. Imbert, D. Devys, G. Cancel, F. Saudou, C. Weber, G. David, L. Tora, Y. Agid, A. Brice, and J.-L. Mandel. 1995b. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378: 403.
-
(1995)
Nature
, vol.378
, pp. 403
-
-
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
|