-
1
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick, R. Jr, Warren, S.T. et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell, 67, 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick R., Jr.9
Warren, S.T.10
-
2
-
-
0026339303
-
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
-
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M.F. and Mandel, J.L. (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science, 252, 1097-1102.
-
(1991)
Science
, vol.252
, pp. 1097-1102
-
-
Oberlé, I.1
Rousseau, F.2
Heitz, D.3
Kretz, C.4
Devys, D.5
Hanauer, A.6
Boue, J.7
Bertheas, M.F.8
Mandel, J.L.9
-
3
-
-
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, A.J., Pieretti, M., Sutcliffe, J.S., Fu, Y.H., Kuhl, D.P., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F.P. 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.1
Pieretti, M.2
Sutcliffe, J.S.3
Fu, Y.H.4
Kuhl, D.P.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.F.9
Zhang, F.P.10
-
4
-
-
0026922707
-
DNA methylation represses FMR-1 transcription in fragile X syndrome
-
Sutcliffe, J.S., Nelson, D.L., Zhang, F., Pieretti, M., Caskey, C.T., Saxe, D. and Warren, S.T. (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum. Mol. Genet., 1, 397-400.
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 397-400
-
-
Sutcliffe, J.S.1
Nelson, D.L.2
Zhang, F.3
Pieretti, M.4
Caskey, C.T.5
Saxe, D.6
Warren, S.T.7
-
5
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F.P., Fu, Y.H., Warren, S.T., Oostra, B.A., Caskey, C.T. and Nelson, D.L. (1991) Absence of expression of the FMR-1 gene in fragile X syndrome. Cell, 66, 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.P.2
Fu, Y.H.3
Warren, S.T.4
Oostra, B.A.5
Caskey, C.T.6
Nelson, D.L.7
-
6
-
-
0027236971
-
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
-
Verheij, C., Bakker, C.E., de Graaff, E., Keulemans, J., Willemsen, R., Verkerk, A.J., Galjaard, H., Reuser, A.J., Hoogeveen, A.T. and Oostra, B.A. (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature, 363, 722-724.
-
(1993)
Nature
, vol.363
, pp. 722-724
-
-
Verheij, C.1
Bakker, C.E.2
de Graaff, E.3
Keulemans, J.4
Willemsen, R.5
Verkerk, A.J.6
Galjaard, H.7
Reuser, A.J.8
Hoogeveen, A.T.9
Oostra, B.A.10
-
7
-
-
19244362362
-
Familial transmission of the FMR1 CGG repeat
-
Nolin, S.L., Lewis, F.A., Ye, L.L., Houck, G.E., Glicksman, A.E., Limprasert, P., Li, S.Y., Zhong, N., Ashley, A.E., Feingold, E. et al. (1996) Familial transmission of the FMR1 CGG repeat. Am. J. Hum. Genet., 59, 1252-1261.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1252-1261
-
-
Nolin, S.L.1
Lewis, F.A.2
Ye, L.L.3
Houck, G.E.4
Glicksman, A.E.5
Limprasert, P.6
Li, S.Y.7
Zhong, N.8
Ashley, A.E.9
Feingold, E.10
-
8
-
-
0001966753
-
The physical and behavioural phenotype
-
Hagerman, R.J. and Hagerman, P. (eds), The Johns Hopkins University Press, Baltimore, MD
-
Hagerman, R.J. (2002) The physical and behavioural phenotype. In Hagerman, R.J. and Hagerman, P. (eds), Fragile-X Syndrome: Diagnosis, Treatment and Research. The Johns Hopkins University Press, Baltimore, MD, pp. 3-109.
-
(2002)
Fragile-X Syndrome: Diagnosis, Treatment and Research
, pp. 3-109
-
-
Hagerman, R.J.1
-
9
-
-
0034522229
-
Premature ovarian failure in the fragile X syndrome
-
Sherman, S.L. (2000) Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet., 97, 189-194.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 189-194
-
-
Sherman, S.L.1
-
10
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the Fragile-X syndrome
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E. and Hagerman, P.J. (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the Fragile-X syndrome. Am. J. Hum. Genet., 66, 6-15.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
-
11
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Mills, J.B., Harris, S.W., Gane, L.W. and Hagerman, P.J. (2000) Clinical involvement and protein expression in individuals with the FMR1 premutation. Am. J. Med. Genet., 91, 144-152.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Mills, J.B.4
Harris, S.W.5
Gane, L.W.6
Hagerman, P.J.7
-
12
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
-
Kenneson, A., Zhang, F., Hagedorn, C.H. and Warren, S.T (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet., 10, 1449-1454.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
13
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng, Y., Zhang, F.P., Lokey, L.K., Chastain, J.L., Lakkis, L., Eberhart, D. and Warren, S.T. (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science, 268, 731-734.
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.P.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
14
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R.J., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B. and Hagerman, P.J. (2001) Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology, 57, 127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
15
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman, R.J. and Hagerman, P.J. (2002) The fragile X premutation: into the phenotypic fold. Curr. Opin. Genet. Dev., 12, 278-283.
-
(2002)
Curr. Opin. Genet. Dev.
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
16
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J.A., Jacquemont, S., Hagerman, R.J., Berry-Kravis, E.M., Grigsby, J., Leehey, M.A., Tassone, F., Brown, W.T., Greco, C.M. and Hagerman, P.J. (2002) Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. Am. J. Neuroradiol., 23, 1757-1766.
-
(2002)
Am. J. Neuroradiol.
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Brown, W.T.8
Greco, C.M.9
Hagerman, P.J.10
-
17
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
18
-
-
0035423079
-
Instability of a (CGG)(98) repeat in the Fmr1 promoter
-
Bontekoe, C.J., Bakker, C.E., Nieuwenhuizen, I.M., van Der Linde, H., Lans, H., de Lange, D., Hirst, M.C. and Oostra, B.A. (2001) Instability of a (CGG)(98) repeat in the Fmr1 promoter. Hum. Mol. Genet., 10, 1693-1699.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1693-1699
-
-
Bontekoe, C.J.1
Bakker, C.E.2
Nieuwenhuizen, I.M.3
van Der Linde, H.4
Lans, H.5
de Lange, D.6
Hirst, M.C.7
Oostra, B.A.8
-
19
-
-
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. et al. (1995) Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature, 378, 403-405.
-
(1995)
Nature
, vol.378
, pp. 403-405
-
-
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
-
20
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune, M.T., Vassilopous, C., Coolbaugh, M.I., Siciliano, M.J. and Monckton, D.G. (2000) Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability. Hum. Mol. Genet., 9, 439-445.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 439-445
-
-
Fortune, M.T.1
Vassilopous, C.2
Coolbaugh, M.I.3
Siciliano, M.J.4
Monckton, D.G.5
-
21
-
-
0036417439
-
Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice
-
Peier, A. and Nelson, D. (2002) Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics, 80, 423-432.
-
(2002)
Genomics
, vol.80
, pp. 423-432
-
-
Peier, A.1
Nelson, D.2
-
22
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
Tassone, F., Hagerman, R.J., Chamberlain, W.D. and Hagerman, P.J. (2000) Transcription of the FMR1 gene in individuals with fragile X syndrome. Am. J. Med. Genet., 97, 195-203.
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
Hagerman, P.J.4
-
23
-
-
0343415658
-
The human 20-kDa 5′-(CGG)(n)-3′-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter
-
Muller-Hartmann, H., Deissler, H., Naumann, F., Schmitz, B., Schroer, J. and Doerfler, W. (2000) The human 20-kDa 5′-(CGG)(n)-3′-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter. J. Biol. Chem., 275, 6447-6452.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 6447-6452
-
-
Muller-Hartmann, H.1
Deissler, H.2
Naumann, F.3
Schmitz, B.4
Schroer, J.5
Doerfler, W.6
-
24
-
-
0036918690
-
Reduced FMR1 mRNA translation efficiency in Fragile X patients with premutations
-
Primerano, B., Tassone, F., Hagerman, R.J., Hagerman, P., Amaldi, F. and Bagni, C. (2002) Reduced FMR1 mRNA translation efficiency in Fragile X patients with premutations. RNA, 8, 1-7.
-
(2002)
RNA
, vol.8
, pp. 1-7
-
-
Primerano, B.1
Tassone, F.2
Hagerman, R.J.3
Hagerman, P.4
Amaldi, F.5
Bagni, C.6
-
25
-
-
0031056685
-
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
-
Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. and Bates, G.P. (1997) Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat. Genet., 15, 197-200.
-
(1997)
Nat. Genet.
, vol.15
, pp. 197-200
-
-
Mangiarini, L.1
Sathasivam, K.2
Mahal, A.3
Mott, R.4
Seller, M.5
Bates, G.P.6
-
26
-
-
0034194141
-
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the CM CTG repeat intergenerational and somatic instability
-
Seznec, H., Lia-Baldini, A.S., Duros, C., Fouquet, C., Lacroix, C., Hofmann-Radvanyi, H., Junien, C. and Gourdon, G. (2000) Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the CM CTG repeat intergenerational and somatic instability. Hum. Mol. Genet., 9, 1185-1194.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1185-1194
-
-
Seznec, H.1
Lia-Baldini, A.S.2
Duros, C.3
Fouquet, C.4
Lacroix, C.5
Hofmann-Radvanyi, H.6
Junien, C.7
Gourdon, G.8
-
27
-
-
0035882460
-
Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene
-
Ishiguro, H., Yamada, K., Sawada, H., Nishii, K., Ichino, N., Sawada, M., Kurosawa, Y., Matsushita, N., Kobayashi, K., Goto, J. et al. (2001) Age-dependent and tissue-specific CAG repeat instability occurs in mouse knock-in for a mutant Huntington's disease gene. J. Neurosci. Res., 65, 289-297.
-
(2001)
J. Neurosci. Res.
, vol.65
, pp. 289-297
-
-
Ishiguro, H.1
Yamada, K.2
Sawada, H.3
Nishii, K.4
Ichino, N.5
Sawada, M.6
Kurosawa, Y.7
Matsushita, N.8
Kobayashi, K.9
Goto, J.10
-
28
-
-
0032938295
-
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
-
Wheeler, V.C., Auerbach, W., White, J.K., Srinidhi, J., Auerbach, A., Ryan, A., Duyao, M.P., Vrbanac, V., Weaver, M., Gusella, J.F. et al. (1999) Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse. Hum. Mol. Genet., 8, 115-122.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 115-122
-
-
Wheeler, V.C.1
Auerbach, W.2
White, J.K.3
Srinidhi, J.4
Auerbach, A.5
Ryan, A.6
Duyao, M.P.7
Vrbanac, V.8
Weaver, M.9
Gusella, J.F.10
-
29
-
-
0037077040
-
Toxic proteins in neurodegenerative disease
-
Taylor, J.P., Hardy, J. and Fischbeck, K.H. (2002) Toxic proteins in neurodegenerative disease. Science, 296, 1991-1995.
-
(2002)
Science
, vol.296
, pp. 1991-1995
-
-
Taylor, J.P.1
Hardy, J.2
Fischbeck, K.H.3
-
30
-
-
0035829728
-
A role for a rat homolog of staufen in the transport of RNA to neuronal dendrites
-
Tang, S.J., Meulemans, D., Vazquez, L., Colaco, N. and Schuman, E. (2001) A role for a rat homolog of staufen in the transport of RNA to neuronal dendrites. Neuron, 32, 463-475.
-
(2001)
Neuron
, vol.32
, pp. 463-475
-
-
Tang, S.J.1
Meulemans, D.2
Vazquez, L.3
Colaco, N.4
Schuman, E.5
-
31
-
-
0031838352
-
Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1
-
Cummings, C.J., Mancini, M.A., Antalffy, B., DeFranco, D.B., Orr, H.T. and Zoghbi, H.Y. (1998) Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat. Genet., 19, 148-154.
-
(1998)
Nat. Genet.
, vol.19
, pp. 148-154
-
-
Cummings, C.J.1
Mancini, M.A.2
Antalffy, B.3
DeFranco, D.B.4
Orr, H.T.5
Zoghbi, H.Y.6
-
32
-
-
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. and 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
-
33
-
-
0035364748
-
Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration
-
Petersen, A., Larsen, K.E., Behr, G.G., Romero, N., Przedborski, S., Brundin, P. and Sulzer, D. (2001) Expanded CAG repeats in exon 1 of the Huntington's disease gene stimulate dopamine-mediated striatal neuron autophagy and degeneration. Hum. Mol. Genet., 10, 1243-1254.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1243-1254
-
-
Petersen, A.1
Larsen, K.E.2
Behr, G.G.3
Romero, N.4
Przedborski, S.5
Brundin, P.6
Sulzer, D.7
-
34
-
-
0036786139
-
Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion
-
Koyano, S., Iwabuchi, K., Yagishita, S., Kuroiwa, Y. and Uchihara, T. (2002) Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion. J. Neurol. Neurosurg. Psychiat., 73, 450-452.
-
(2002)
J. Neurol. Neurosurg. Psychiat.
, vol.73
, pp. 450-452
-
-
Koyano, S.1
Iwabuchi, K.2
Yagishita, S.3
Kuroiwa, Y.4
Uchihara, T.5
-
35
-
-
0036198110
-
Protein surveillance machinery in brains with spinocerebellar ataxia type 3: Redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions
-
Schmidt, T., Lindenberg, K.S., Krebs, A., Schols, L., Laccone, F., Herms, J., Rechsteiner, M., Riess, O. and Landwehrmeyer, G.B. (2002) Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions. Ann. Neurol., 51, 302-310.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 302-310
-
-
Schmidt, T.1
Lindenberg, K.S.2
Krebs, A.3
Schols, L.4
Laccone, F.5
Herms, J.6
Rechsteiner, M.7
Riess, O.8
Landwehrmeyer, G.B.9
-
36
-
-
0036317942
-
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
-
Takahashi, J., Fujigasaki, H., Zander, C., El Hachimi, K.H., Stevanin, G., Durr, A., Lebre, A.S., Yvert, G., Trottier, Y., The, H. et al. (2002) Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. Brain, 125, 1534-1543.
-
(2002)
Brain
, vol.125
, pp. 1534-1543
-
-
Takahashi, J.1
Fujigasaki, H.2
Zander, C.3
El Hachimi, K.H.4
Stevanin, G.5
Durr, A.6
Lebre, A.S.7
Yvert, G.8
Trottier, Y.9
The, H.10
-
37
-
-
0034703413
-
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
-
Calado, A., Tome, F.M., Brais, B., Rouleau, G.A., Kuhn, U., Wahle, E. and Carmo-Fonseca, M. (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum. Mol. Genet., 9, 2321-2328.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2321-2328
-
-
Calado, A.1
Tome, F.M.2
Brais, B.3
Rouleau, G.A.4
Kuhn, U.5
Wahle, E.6
Carmo-Fonseca, M.7
-
38
-
-
0033080367
-
Glutamine repeats and neurodegenerative diseases: Molecular aspects
-
Perutz, M.F. (1999) Glutamine repeats and neurodegenerative diseases: molecular aspects. Trends Biochem. Sci., 24, 58-63.
-
(1999)
Trends Biochem. Sci.
, vol.24
, pp. 58-63
-
-
Perutz, M.F.1
-
39
-
-
0032475931
-
Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions
-
Saudou, F., Finkbeiner, S., Devys, D. and Greenberg, M.E. (1998) Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell, 95, 55-66.
-
(1998)
Cell
, vol.95
, pp. 55-66
-
-
Saudou, F.1
Finkbeiner, S.2
Devys, D.3
Greenberg, M.E.4
-
40
-
-
0035947372
-
Impairment of the ubiquitin-proteasome system by protein aggregation
-
Bence, N.F., Sampat, R.M. and Kopito, R.R. (2001) Impairment of the ubiquitin-proteasome system by protein aggregation. Science, 292, 1552-1555.
-
(2001)
Science
, vol.292
, pp. 1552-1555
-
-
Bence, N.F.1
Sampat, R.M.2
Kopito, R.R.3
-
41
-
-
0035336658
-
Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release
-
Jana, N.R., Zemskov, E.A., Wang, G. and Nukina, N. (2001) Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release. Hum. Mol. Genet., 10, 1049-1059.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1049-1059
-
-
Jana, N.R.1
Zemskov, E.A.2
Wang, G.3
Nukina, N.4
-
42
-
-
0037898584
-
A cerebellar FMR1 riboCGG binding protein
-
Rosser, T.C., Johnson, T.R. and Warren, S.T. (2002) A cerebellar FMR1 riboCGG binding protein. Am. J. Hum. Genet., 71, 507.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 507
-
-
Rosser, T.C.1
Johnson, T.R.2
Warren, S.T.3
-
43
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori, C.L., Ricker, K., Moseley, M.L., Jacobsen, J.F., Kress, W., Naylor, S.L., Day, J.W. and Ranum, L.P. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science, 293, 864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.8
-
44
-
-
0034873099
-
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
-
Savkur, R.S., Philips, A.V. and Cooper, T.A. (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet., 29, 40-47.
-
(2001)
Nat. Genet.
, vol.29
, pp. 40-47
-
-
Savkur, R.S.1
Philips, A.V.2
Cooper, T.A.3
-
45
-
-
0036757709
-
The intralaminar and midline nuclei of the thalamus. Anatomical and functional evidence for participation in processes of arousal and awareness
-
Van der Werf, Y.D., Witter, M.P. and Groenewegen, H.J. (2002) The intralaminar and midline nuclei of the thalamus. Anatomical and functional evidence for participation in processes of arousal and awareness. Brain Res. Brain Res. Rev., 39, 107-140.
-
(2002)
Brain Res. Brain Res. Rev.
, vol.39
, pp. 107-140
-
-
Van der Werf, Y.D.1
Witter, M.P.2
Groenewegen, H.J.3
-
46
-
-
0022981139
-
Thalamic control of dopaminergic functions in the caudate-putamen of the rat - II. Studies using ibotenic acid injection of the parafascicular-intralaminar nuclei
-
Kilpatrick, I.C., Jones, M.W., Johnson, B.J., Cornwall, J. and Phillipson, O.T. (1986) Thalamic control of dopaminergic functions in the caudate-putamen of the rat - II. Studies using ibotenic acid injection of the parafascicular-intralaminar nuclei. Neuroscience, 19, 979-990.
-
(1986)
Neuroscience
, vol.19
, pp. 979-990
-
-
Kilpatrick, I.C.1
Jones, M.W.2
Johnson, B.J.3
Cornwall, J.4
Phillipson, O.T.5
-
47
-
-
0031023783
-
Amnesia following damage to the mammillary bodies
-
Tanaka, Y., Miyazawa, Y., Akaoka, F. and Yamada, T. (1997) Amnesia following damage to the mammillary bodies. Neurology, 48, 160-165.
-
(1997)
Neurology
, vol.48
, pp. 160-165
-
-
Tanaka, Y.1
Miyazawa, Y.2
Akaoka, F.3
Yamada, T.4
-
48
-
-
0027223129
-
Memory impairments following lesions to the mammillary region of the rat
-
Sziklas, V. and Petrides, M. (1993) Memory impairments following lesions to the mammillary region of the rat. Eur. J. Neurosci., 5, 525-540.
-
(1993)
Eur. J. Neurosci.
, vol.5
, pp. 525-540
-
-
Sziklas, V.1
Petrides, M.2
-
49
-
-
0000508812
-
Inferior and superior colliculi
-
Webster, D.B., Popper, A.N. and Fay, R.R. (eds), Springer, New York
-
Oliver, D.L. and Huerta, M.F. (1992) Inferior and superior colliculi. In Webster, D.B., Popper, A.N. and Fay, R.R. (eds), The Mammalian Auditory Pathway: Neuroanatomy. Springer, New York, pp. 168-221.
-
(1992)
The Mammalian Auditory Pathway: Neuroanatomy
, pp. 168-221
-
-
Oliver, D.L.1
Huerta, M.F.2
-
50
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski, C., Levesque, S., Morel, M.L., Rouillard, P., Morgan, K. and Rousseau, F. (2002) Premutation and intermediate-size FMR1 alleles in 10 572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Mol. Genet., 11, 371-378.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
51
-
-
0027176361
-
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
-
Devys, D., Lutz, Y., Rouyer, N., Bellocq, J.P. and Mandel, J.L. (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet., 4, 335-340.
-
(1993)
Nat. Genet.
, vol.4
, pp. 335-340
-
-
Devys, D.1
Lutz, Y.2
Rouyer, N.3
Bellocq, J.P.4
Mandel, J.L.5
-
52
-
-
7844239780
-
Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis
-
Khandjian, E.W., Bardoni, B., Corbin, F., Sittler, A., Giroux, S., Heitz, D., Tremblay, S., Pinset, C., Montarras, D., Rousseau, F. et al. (1998) Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Hum. Mol. Genet., 7, 2121-2128.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2121-2128
-
-
Khandjian, E.W.1
Bardoni, B.2
Corbin, F.3
Sittler, A.4
Giroux, S.5
Heitz, D.6
Tremblay, S.7
Pinset, C.8
Montarras, D.9
Rousseau, F.10
-
53
-
-
0030753950
-
Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis
-
Tamanini, F., Willemsen, R., van Unen, L., Bontekoe, C., Galjaard, H., Oostra, B.A. and Hoogeveen, A.T. (1997) Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum. Mol. Genet., 6, 1315-1322.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1315-1322
-
-
Tamanini, F.1
Willemsen, R.2
van Unen, L.3
Bontekoe, C.4
Galjaard, H.5
Oostra, B.A.6
Hoogeveen, A.T.7
-
54
-
-
0029086522
-
Sodium dodecyl sulfate (SDS) activation of the 20S proteasome in rat liver
-
Shibatani, T. and Ward, W.F. (1995) Sodium dodecyl sulfate (SDS) activation of the 20S proteasome in rat liver. Arch. Biochem. Biophys., 321, 160-166.
-
(1995)
Arch. Biochem. Biophys.
, vol.321
, pp. 160-166
-
-
Shibatani, T.1
Ward, W.F.2
-
55
-
-
0342757873
-
Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse
-
Bakker, C.E., de Diego Otero, Y., Bontekoe, C., Raghoe, P., Luteijn, T., Hoogeveen, A.T., Oostra, B.A. and Willemsen, R. (2000) Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp. Cell. Res., 258, 162-170.
-
(2000)
Exp. Cell. Res.
, vol.258
, pp. 162-170
-
-
Bakker, C.E.1
de Diego Otero, Y.2
Bontekoe, C.3
Raghoe, P.4
Luteijn, T.5
Hoogeveen, A.T.6
Oostra, B.A.7
Willemsen, R.8
|