-
1
-
-
0021982117
-
Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease
-
Graveland, G.A., Williams, R.S. and DiFiglia, M. (1985) Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington's disease. Science, 227, 770-773.
-
(1985)
Science
, vol.227
, pp. 770-773
-
-
Graveland, G.A.1
Williams, R.S.2
DiFiglia, M.3
-
2
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The 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
-
-
-
3
-
-
0000510404
-
Huntington's Disease
-
Wells, R.D. and Warren, S.T. (eds), Academic Press, San Diego, CA
-
Myers, R.H., Marans, K.S. and MacDonald, M.E. (1998) Huntington's Disease. In Wells, R.D. and Warren, S.T. (eds), Genetic Instabilities and Hereditary Neurological Diseases. Academic Press, San Diego, CA, pp. 301-323.
-
(1998)
Genetic Instabilities and Hereditary Neurological Diseases
, pp. 301-323
-
-
Myers, R.H.1
Marans, K.S.2
MacDonald, M.E.3
-
4
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington's disease
-
MacDonald, M.E., Barnes, G., Srinidhi, J., Duyao, M.P., Ambrose, C.M., Myers, R.H., Gray, J., Conneally, P.M., Young, A., Penney, J. et al. (1993) Gametic but not somatic instability of CAG repeat length in Huntington's disease. J. Med Genet., 30, 982-986.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 982-986
-
-
MacDonald, M.E.1
Barnes, G.2
Srinidhi, J.3
Duyao, M.P.4
Ambrose, C.M.5
Myers, R.H.6
Gray, J.7
Conneally, P.M.8
Young, A.9
Penney, J.10
-
5
-
-
0027745692
-
Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene
-
Zuhlke, C., Riess, O., Bockel, B., Lange, H. and Thies, U. (1993) Mitotic stability and meiotic variability of the (CAG)n repeat in the Huntington disease gene. Hum. Mol. Genet., 2, 2063-2067.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2063-2067
-
-
Zuhlke, C.1
Riess, O.2
Bockel, B.3
Lange, H.4
Thies, U.5
-
6
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius, H., Kremer, B., Goldberg, Y.P., Theilmann, J., Andrew, S.E., Zeisler, J., Adam, S., Greenberg, C., Ives, E.J., Clarke, L.A. et al. (1994) Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nature Genet., 6, 409-414.
-
(1994)
Nature Genet.
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
-
7
-
-
0028931138
-
Somatic expansion of the (CAG)n repeat in Huntington disease brains
-
De Rooij, K.E., De Koning Gans, P.A., Roos, R.A., Van Ommen, G.J. and Den Dunnen, J.T. (1995) Somatic expansion of the (CAG)n repeat in Huntington disease brains. Hum. Genet., 95, 270-274.
-
(1995)
Hum. Genet.
, vol.95
, pp. 270-274
-
-
De Rooij, K.E.1
De Koning Gans, P.A.2
Roos, R.A.3
Van Ommen, G.J.4
Den Dunnen, J.T.5
-
8
-
-
0028829596
-
CAG expansion affects the expression of mutant huntingtin in the Huntingtons disease brain
-
Aronin, N., Chase, K., Young, C., Sapp, E., Schwarz, C., Matta, N., Kornreich, R., Landwehrmeyer, B., Bird, E., Beal, M.F. et al. (1995) CAG expansion affects the expression of mutant huntingtin in the Huntingtons 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
Schwarz, C.5
Matta, N.6
Kornreich, R.7
Landwehrmeyer, B.8
Bird, E.9
Beal, M.F.10
-
9
-
-
0030812556
-
Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers
-
Giovannone, B., Sabbadini, G., Di Maio, L., Calabrese, O., Castaldo, I., Frontali, M., Novelleto, A. and Squitieri, F. (1997) Analysis of (CAG)n size heterogeneity in somatic and sperm cell DNA from intermediate and expanded Huntington disease gene carriers. Hum. Mutat., 10, 458-464.
-
(1997)
Hum. Mutat.
, vol.10
, pp. 458-464
-
-
Giovannone, B.1
Sabbadini, G.2
Di Maio, L.3
Calabrese, O.4
Castaldo, I.5
Frontali, M.6
Novelleto, A.7
Squitieri, F.8
-
10
-
-
0034625562
-
The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum
-
Kahlem, P. and Djian, P. (2000) The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. Neurosci. Lett., 286, 203-207.
-
(2000)
Neurosci. Lett.
, vol.286
, pp. 203-207
-
-
Kahlem, P.1
Djian, P.2
-
11
-
-
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
-
12
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
Kennedy, L. and Shelbourne, P.F. (2000) Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Mol. Genet., 9, 2539-2544.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
13
-
-
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. Nature Genet, 15, 197-200.
-
(1997)
Nature 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
-
14
-
-
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
-
15
-
-
0035065524
-
Trinucleotide expansion in haploid germ cells by gap repair
-
Kovtun, I.V. and McMurray, C.T. (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nature Genet., 27, 407-411.
-
(2001)
Nature Genet.
, vol.27
, pp. 407-411
-
-
Kovtun, I.V.1
McMurray, C.T.2
-
16
-
-
0037321290
-
Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum
-
Wheeler, V.C., Lebel, L.A., Vrbanac, V., Teed, A., Te Riele, H. and MacDonald, M.E. (2003) Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Hum. Mol. Genet., 12, 273-281.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 273-281
-
-
Wheeler, V.C.1
Lebel, L.A.2
Vrbanac, V.3
Teed, A.4
Te Riele, H.5
MacDonald, M.E.6
-
17
-
-
0028364565
-
Complex gene conversion events in germline mutation at human minisatellites
-
Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L. and Armour, J.A. (1994) Complex gene conversion events in germline mutation at human minisatellites. Nature Genet., 6, 136-145.
-
(1994)
Nature Genet.
, vol.6
, pp. 136-145
-
-
Jeffreys, A.J.1
Tamaki, K.2
MacLeod, A.3
Monckton, D.G.4
Neil, D.L.5
Armour, J.A.6
-
18
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: Small pool PCR analyses
-
Monckton, D.G., Wong, L.J., Ashizawa, T. and Caskey, C.T. (1995) Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum. Mol. Genet., 4, 1-8.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.2
Ashizawa, T.3
Caskey, C.T.4
-
19
-
-
0032949459
-
A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice
-
Shelbourne, P.F., Killeen, N., Hevner, R.F., Johnston, H.M., Tecott, L., Lewandoski, M., Ennis, M., Ramirez, L., Li, Z., Iannicola, C. et al. (1999) A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum. Mol. Genet., 8, 763-774.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 763-774
-
-
Shelbourne, P.F.1
Killeen, N.2
Hevner, R.F.3
Johnston, H.M.4
Tecott, L.5
Lewandoski, M.6
Ennis, M.7
Ramirez, L.8
Li, Z.9
Iannicola, C.10
-
20
-
-
0035862896
-
Neurological abnormalities in a knock-in mouse model of Huntington's disease
-
Lin, C.H., Tallaksen-Greene, S., Chien, W.M., Cearley, J.A., Jackson, W.S., Crouse, A.B., Ren, S., Li, X.J., Albin, R.L. and Detloff, P.J. (2001) Neurological abnormalities in a knock-in mouse model of Huntington's disease. Hum. Mol. Genet., 10, 137-144.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 137-144
-
-
Lin, C.H.1
Tallaksen-Greene, S.2
Chien, W.M.3
Cearley, J.A.4
Jackson, W.S.5
Crouse, A.B.6
Ren, S.7
Li, X.J.8
Albin, R.L.9
Detloff, P.J.10
-
21
-
-
0022395922
-
Neuropathological classification of Huntington's disease
-
Vonsattel, J.P., Myers, R.H., Stevens, T.J., Ferrante, R.J., Bird, E.D. and 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
-
22
-
-
0029084074
-
Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum
-
Leeflang, E.P., Zhang, L., Tavare, S., Hubert, R., Srinidhi, J., MacDonald. M.E., Myers, R.H., De Young, M., Wexler, N.S., Gusella, J.F. et al. (1995) Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: Quantification of the mutation frequency spectrum. Hum. Mol. Genet., 4, 1519-1526.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1519-1526
-
-
Leeflang, E.P.1
Zhang, L.2
Tavare, S.3
Hubert, R.4
Srinidhi, J.5
MacDonald, M.E.6
Myers, R.H.7
De Young, M.8
Wexler, N.S.9
Gusella, J.F.10
-
23
-
-
0032897901
-
Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism
-
Leeflang, E.P., Tavare, S., Marjoram, P., Neal, C.O.S., Srinidhi, J., MacDonald, M.E., de Young, M., Wexler, N.S., Gusella, J.F. and Arnheim, N. (1999) Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism. Hum. Mol. Genet., 8, 173-183.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 173-183
-
-
Leeflang, E.P.1
Tavare, S.2
Marjoram, P.3
Neal, C.O.S.4
Srinidhi, J.5
MacDonald, M.E.6
de Young, M.7
Wexler, N.S.8
Gusella, J.F.9
Arnheim, N.10
-
24
-
-
0030937818
-
Genotypes at the GluR6 kamate receptor locus are associated with variation in the age of onset of Huntington disease
-
Rubinsztein, D.C., Leggo, J., Chiano, M., Dodge, A., Norbury, G., Rosser, E. and Craufurd, D. (1997) Genotypes at the GluR6 kamate receptor locus are associated with variation in the age of onset of Huntington disease. Proc. Natl Acad. Sci. USA, 94, 3872-3876.
-
(1997)
Proc. Natl. Acad. Sci. USA
, vol.94
, pp. 3872-3876
-
-
Rubinsztein, D.C.1
Leggo, J.2
Chiano, M.3
Dodge, A.4
Norbury, G.5
Rosser, E.6
Craufurd, D.7
-
25
-
-
0034426013
-
N-terminal fragments of mutant huntingtin: Selective accumulation in striatal neurons and synaptic toxicity
-
Li, H., Li, S.-H., Johnston, H., Shelbourne, P.F. and Li, X.-J. (2000) N-terminal fragments of mutant huntingtin: selective accumulation in striatal neurons and synaptic toxicity. Nature Genet., 25, 385-389.
-
(2000)
Nature Genet.
, vol.25
, pp. 385-389
-
-
Li, H.1
Li, S.-H.2
Johnston, H.3
Shelbourne, P.F.4
Li, X.-J.5
-
26
-
-
0034163497
-
Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh(Q92) and Hdh(Q111) knock-in mice
-
Wheeler, V.C., White, J.K., Gutekunst, C.A., Vrbanac, V., Weaver, M., Li, X.J., Li, S.H., Yi, H., Vonsattel, J.P., Gusella, J.F. et al. (2000) Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in Hdh(Q92) and Hdh(Q111) knock-in mice. Hum. Mol. Genet., 9, 503-513.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 503-513
-
-
Wheeler, V.C.1
White, J.K.2
Gutekunst, C.A.3
Vrbanac, V.4
Weaver, M.5
Li, X.J.6
Li, S.H.7
Yi, H.8
Vonsattel, J.P.9
Gusella, J.F.10
-
27
-
-
0036314167
-
Comparison of huntingtin proteolytic fragments in human lymphoblast cell lines and human brain
-
Toneff, T., Mende-Mueller, L., Wu, Y., Hwang, S.R., Bundey, R., Thompson, L.M., Chesselet, M.F. and Hook, V. (2002) Comparison of huntingtin proteolytic fragments in human lymphoblast cell lines and human brain. J. Neurochem., 82, 84-92.
-
(2002)
J. Neurochem.
, vol.82
, pp. 84-92
-
-
Toneff, T.1
Mende-Mueller, L.2
Wu, Y.3
Hwang, S.R.4
Bundey, R.5
Thompson, L.M.6
Chesselet, M.F.7
Hook, V.8
-
28
-
-
0037107191
-
Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice
-
Menalled, L.B., Sison, J.D., Wu, Y., Olivieri, M., Li, X.J., Li, H., Zeitlin, S. and Chesselet, M.F. (2002) Early motor dysfunction and striosomal distribution of huntingtin microaggregates in Huntington's disease knock-in mice. J. Neurosci., 22, 8266-8276.
-
(2002)
J. Neurosci.
, vol.22
, pp. 8266-8276
-
-
Menalled, L.B.1
Sison, J.D.2
Wu, Y.3
Olivieri, M.4
Li, X.J.5
Li, H.6
Zeitlin, S.7
Chesselet, M.F.8
-
29
-
-
0033010987
-
Recent advances in understanding the pathogenesis of Huntington's disease
-
Reddy, P.H., Williams, M. and Tagle, D.A. (1999) Recent advances in understanding the pathogenesis of Huntington's disease. Trends Neurosci., 22, 248-255.
-
(1999)
Trends Neurosci.
, vol.22
, pp. 248-255
-
-
Reddy, P.H.1
Williams, M.2
Tagle, D.A.3
-
30
-
-
0034639711
-
Dramatic, expansion-biased, age-dependent, tissue specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
-
Fortune, M.T., Vassilopoulos, 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
Vassilopoulos, C.2
Coolbaugh, M.I.3
Siciliano, M.J.4
Monckton, D.G.5
-
31
-
-
0015801439
-
Huntington's disease in children. Neuropathologic study of four cases
-
Byers, R.K., Gilles, F.H. and Fung, C. (1973) Huntington's disease in children. Neuropathologic study of four cases. Neurology, 23, 561-569.
-
(1973)
Neurology
, vol.23
, pp. 561-569
-
-
Byers, R.K.1
Gilles, F.H.2
Fung, C.3
-
32
-
-
0033071176
-
Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (mis)fold
-
Paulson, H.L. (1999) Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold. Am. J. Hum. Genet., 64, 339-345.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 339-345
-
-
Paulson, H.L.1
-
33
-
-
0034094873
-
Glutamine repeats and neurodegeneration
-
Zoghbi, H.Y. and Orr, H.T. (2000) Glutamine repeats and neurodegeneration. Ann. Rev. Neurosci., 23, 217-247.
-
(2000)
Ann. Rev. Neurosci.
, vol.23
, pp. 217-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
34
-
-
0028214436
-
Huntington's disease, energy, and excitotoxicity
-
Beal, M.F. (1994) Huntington's disease, energy, and excitotoxicity. Neurobiol. Aging, 15, 275-276.
-
(1994)
Neurobiol. Aging
, vol.15
, pp. 275-276
-
-
Beal, M.F.1
-
35
-
-
0035919701
-
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease
-
Zuccato, C., Ciammola, A., Rigamonti, D., Leavitt, B.R., Goffredo, D., Conti, L., MacDonald, M.E., Friedlander, R.M., Silani, V., Hayden, M.R. et al. (2001) Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science, 293, 493-498.
-
(2001)
Science
, vol.293
, pp. 493-498
-
-
Zuccato, C.1
Ciammola, A.2
Rigamonti, D.3
Leavitt, B.R.4
Goffredo, D.5
Conti, L.6
MacDonald, M.E.7
Friedlander, R.M.8
Silani, V.9
Hayden, M.R.10
-
36
-
-
0033119123
-
Nuclear and neuropil aggregates in Huntington's disease: Relationship to neuropathology
-
Gutekunst, C.A., Li, S.H., Yi, H., Mulroy, J.S., Kuemmerle, S., Jones, R., Rye, D., Ferrante, R.J., Hersch, S.M. and Li, X.J. (1999) Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology. J. Neurosci., 19, 2522-2534.
-
(1999)
J. Neurosci.
, vol.19
, pp. 2522-2534
-
-
Gutekunst, C.A.1
Li, S.H.2
Yi, H.3
Mulroy, J.S.4
Kuemmerle, S.5
Jones, R.6
Rye, D.7
Ferrante, R.J.8
Hersch, S.M.9
Li, X.J.10
-
37
-
-
0035475642
-
Dynamic mutations: A decade of unstable expanded repeats in human genetic disease
-
Richards, R.I. (2001) Dynamic mutations: a decade of unstable expanded repeats in human genetic disease. Hum. Mol. Genet., 10, 2187-2194.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2187-2194
-
-
Richards, R.I.1
-
38
-
-
0031054076
-
Hypermutable myotonic dystrophy CTG repeats in transgenic mice
-
Monckton, D.G., Coolbaugh, M.I., Ashizawa, K.T., Siciliano, M.J. and Caskey, C.T. (1997) Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nature Genet., 15, 193-196.
-
(1997)
Nature Genet.
, vol.15
, pp. 193-196
-
-
Monckton, D.G.1
Coolbaugh, M.I.2
Ashizawa, K.T.3
Siciliano, M.J.4
Caskey, C.T.5
-
39
-
-
0034528090
-
Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): A laser-captured microdissection (LCM)-based analysis
-
Watanabe, H., Tanaka, F., Doyu, M., Riku, S., Yoshida, M., Hashizume, Y. and Sobue, G. (2000) Differential somatic CAG repeat instability in variable brain cell lineage in dentatorubral pallidoluysian atrophy (DRPLA): a laser-captured microdissection (LCM)-based analysis. Hum. Genet., 107, 452-457.
-
(2000)
Hum. Genet.
, vol.107
, pp. 452-457
-
-
Watanabe, H.1
Tanaka, F.2
Doyu, M.3
Riku, S.4
Yoshida, M.5
Hashizume, Y.6
Sobue, G.7
-
40
-
-
0034640011
-
Fourteen and counting: Unraveling trinucleotide repeat diseases
-
Cummings, C.J. and Zoghbi, H.Y. (2000) Fourteen and counting: unraveling trinucleotide repeat diseases. Hum. Mol. Genet., 9, 909-916.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 909-916
-
-
Cummings, C.J.1
Zoghbi, H.Y.2
-
41
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret, M., Ahlberg, G., Grandell, U., Hedberg, B., Johnson, K. and Edstrom, L. (1993) Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum. Mol. Genet., 2, 1397-1400.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ahlberg, G.2
Grandell, U.3
Hedberg, B.4
Johnson, K.5
Edstrom, L.6
-
42
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong, S.S., McCall, A.E., Cota, J., Subramony, S.H., Orr, H.T., Hughes, M.R. and Zoghbi, H.Y. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 10, 344-350.
-
(1995)
Nature Genet.
, vol.10
, pp. 344-350
-
-
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
-
43
-
-
0031606735
-
Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease
-
Cancel, G., Gourfinkel-An, I., Stevanin, G., Didierjean, O., Abbas, N., Hirsch, E., Agid, Y. and Brice, A. (1998) Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado-Joseph disease. Hum. Mutat., 11, 23-27.
-
(1998)
Hum. Mutat.
, vol.11
, pp. 23-27
-
-
Cancel, G.1
Gourfinkel-An, I.2
Stevanin, G.3
Didierjean, O.4
Abbas, N.5
Hirsch, E.6
Agid, Y.7
Brice, A.8
-
44
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
-
Ueno, S., Kondoh, K., Kotani, Y., Komure, O., Kuno, S., Kawai, J., Hazama, F. and Sano, A. (1995) Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum. Mol. Genet., 4, 663-666.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 663-666
-
-
Ueno, S.1
Kondoh, K.2
Kotani, Y.3
Komure, O.4
Kuno, S.5
Kawai, J.6
Hazama, F.7
Sano, A.8
-
45
-
-
0033358560
-
Tissue specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG repeat length and androgen receptor gene expression level
-
Tanaka, F., Reeves, M.F., Ito, Y., Matsumoto, M., Li, M., Miwa, S., Inukai, A., Yamamoto, M., Doyu, M., Yoshida, M. et al. (1999) Tissue specific somatic mosaicism in spinal and bulbar muscular atrophy is dependent on CAG repeat length and androgen receptor gene expression level. Am. J. Hum. Genet., 65, 966-973.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 966-973
-
-
Tanaka, F.1
Reeves, M.F.2
Ito, Y.3
Matsumoto, M.4
Li, M.5
Miwa, S.6
Inukai, A.7
Yamamoto, M.8
Doyu, M.9
Yoshida, M.10
|