-
1
-
-
4544293517
-
Huntingtin and its role in neuronal degeneration
-
S.H. Li, and X.J. Li Huntingtin and its role in neuronal degeneration Neuroscientist 10 2004 467 475
-
(2004)
Neuroscientist
, vol.10
, pp. 467-475
-
-
Li, S.H.1
Li, X.J.2
-
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 A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 1993 971 983
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
3
-
-
0030937818
-
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
-
DOI 10.1073/pnas.94.8.3872
-
D.C. Rubinsztein, J. Leggo, M. Chiano, A. Dodge, G. Norbury, and E. Rosser Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease Proc Natl Acad Sci U S A 94 1997 3872 3876 (Pubitemid 27180465)
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, Issue.8
, 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
-
4
-
-
33644658207
-
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
-
DOI 10.1007/s10048-005-0023-z
-
S. Metzger, P. Bauer, J. Tomiuk, F. Laccone, S. Didonato, and C. Gellera The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease Neurogenetics 7 2006 27 30 (Pubitemid 43327681)
-
(2006)
Neurogenetics
, vol.7
, Issue.1
, pp. 27-30
-
-
Metzger, S.1
Bauer, P.2
Tomiuk, J.3
Laccone, F.4
Didonato, S.5
Gellera, C.6
Soliveri, P.7
Lange, H.W.8
Weirich-Schwaiger, H.9
Wenning, G.K.10
Melegh, B.11
Havasi, V.12
Baliko, L.13
Wieczorek, S.14
Arning, L.15
Zaremba, J.16
Sulek, A.17
Hoffman-Zacharska, D.18
Basak, A.N.19
Ersoy, N.20
Zidovska, J.21
Kebrdlova, V.22
Pandolfo, M.23
Ribai, P.24
Kadasi, L.25
Kvasnicova, M.26
Weber, B.H.F.27
Kreuz, F.28
Dose, M.29
Stuhrmann, M.30
Riess, O.31
more..
-
5
-
-
0028564730
-
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
-
F. Squitier, S.E. Andrew, Y.P. Goldberg, B. Kremer, N. Spence, and J. Zeisler DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence Hum Mol Genet 3 1994 2103 2114
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2103-2114
-
-
Squitier, F.1
Andrew, S.E.2
Goldberg, Y.P.3
Kremer, B.4
Spence, N.5
Zeisler, J.6
-
6
-
-
12244266688
-
Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: Insights into the genetic evolution of Huntington disease
-
E. Almqvist, N. Spence, K. Nichol, S.E. Andrew, J. Vesa, and L. Peltonen Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease Hum Mol Genet 4 1995 207 214
-
(1995)
Hum Mol Genet
, vol.4
, pp. 207-214
-
-
Almqvist, E.1
Spence, N.2
Nichol, K.3
Andrew, S.E.4
Vesa, J.5
Peltonen, L.6
-
7
-
-
36549031236
-
Analysis of CCG Repeats in Huntingtin Gene among HD Patients and Normal Populations in Japan
-
DOI 10.1016/j.arcmed.2007.06.015, PII S0188440907002330
-
S. Morovvati, M. Nakagawa, M. Osame, and A. Karami Analysis of CCG repeats in Huntingtin gene among HD patients and normal populations in Japan Arch Med Res 39 2008 131 133 (Pubitemid 350192005)
-
(2008)
Archives of Medical Research
, vol.39
, Issue.1
, pp. 131-133
-
-
Morovvati, S.1
Nakagawa, M.2
Osame, M.3
Karami, A.4
-
8
-
-
33846540080
-
The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis
-
DOI 10.1093/hmg/ddl440
-
E. Rockabrand, N. Slepko, A. Pantalone, V.N. Nukala, A. Kazantsev, and J.L. Marsh The first 17 amino acids of Huntingtin modulate its sub-cellular localization, aggregation and effects on calcium homeostasis Hum Mol Genet 16 2007 61 77 (Pubitemid 46156597)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.1
, pp. 61-77
-
-
Rockabrand, E.1
Slepko, N.2
Pantalone, A.3
Nukala, V.N.4
Kazantsev, A.5
Marsh, J.L.6
Sullivan, P.G.7
Steffan, J.S.8
Sensi, S.L.9
Thompson, L.M.10
-
9
-
-
11144353613
-
SUMO Modification of Huntingtin and Huntington's Disease Pathology
-
DOI 10.1126/science.1092194
-
J.S. Steffan, N. Agrawal, J. Pallos, E. Rockabrand, L.C. Trotman, and N. Slepko SUMO modification of Huntingtin and Huntington's disease pathology Science 304 2004 100 104 (Pubitemid 38451465)
-
(2004)
Science
, vol.304
, Issue.5667
, pp. 100-104
-
-
Steffan, J.S.1
Agrawal, N.2
Pallos, J.3
Rockabrand, E.4
Trotman, L.C.5
Slepko, N.6
Illes, K.7
Lukacsovich, T.8
Zhu, Y.-Z.9
Cattaneo, E.10
Pandolfi, P.P.11
Thompson, L.M.12
Marsh, J.L.13
-
10
-
-
0027304632
-
Huntington's disease: Testing the test
-
DOI 10.1038/ng0893-329
-
A.P. Read Huntington's disease: testing the test Nat Genet 4 1993 329 330 (Pubitemid 23231476)
-
(1993)
Nature Genetics
, vol.4
, Issue.4
, pp. 329-330
-
-
Read, A.P.1
-
11
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
DOI 10.1038/ng0893-393
-
R.G. Snell, J.C. MacMillan, J.P. Cheadle, I. Fenton, L.P. Lazarou, and P. Davies Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease Nat Genet 4 1993 393 397 (Pubitemid 23231489)
-
(1993)
Nature Genetics
, vol.4
, Issue.4
, pp. 393-397
-
-
Snell, R.G.1
MacMillan, J.C.2
Cheadle, J.P.3
Fenton, I.4
Lazarou, L.P.5
Davies, P.6
MacDonald, M.E.7
Gusella, J.F.8
Harper, P.S.9
Shaw, D.J.10
-
13
-
-
0029027047
-
Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease
-
N. Masuda, J. Goto, N. Murayama, M. Watanabe, I. Kondo, and I. Kanazawa Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease J Med Genet 32 1995 701 705
-
(1995)
J Med Genet
, vol.32
, pp. 701-705
-
-
Masuda, N.1
Goto, J.2
Murayama, N.3
Watanabe, M.4
Kondo, I.5
Kanazawa, I.6
-
14
-
-
4644293999
-
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
-
DOI 10.1159/000079938
-
C.K. Wang, Y.R. Wu, W.L. Hwu, C.M. Chen, L.S. Ro, and S.T. Chen DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients Eur Neurol 52 2004 96 100 (Pubitemid 39274291)
-
(2004)
European Neurology
, vol.52
, Issue.2
, pp. 96-100
-
-
Wang, C.K.1
Wu, Y.R.2
Hwu, W.L.3
Chen, C.M.4
Ro, L.S.5
Chen, S.T.6
Gwinn-Hardy, K.7
Yang, C.C.8
Wu, R.M.9
Chen, T.F.10
Wang, H.C.11
Chao, M.C.12
Chiu, M.J.13
Lu, C.J.14
Lee-Chen, G.J.15
-
15
-
-
0027519511
-
Analysis of the huntingtin gene revels a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number
-
D.C. Rubinsztein, D.E. Barton, B.C. Davison, and M.A. Ferguson-Smith Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number Hum Mol Genet 2 1993 1713 1715 (Pubitemid 23358694)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.10
, pp. 1713-1715
-
-
Rubinsztein, D.C.1
Barton, D.E.2
Davison, B.C.C.3
Ferguson-Smith, A.4
-
16
-
-
0031747231
-
Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
-
I. Vuillaume, P. Vermersch, A. Destée, H. Petit, and B. Sablonnière Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease J Neurol Neurosurg Psychiatry 64 1998 758 762 (Pubitemid 28274410)
-
(1998)
Journal of Neurology Neurosurgery and Psychiatry
, vol.64
, Issue.6
, pp. 758-762
-
-
Vuillaume, I.1
Vermersch, P.2
Destee, A.3
Petit, H.4
Sablonniere, B.5
-
18
-
-
0014581944
-
Childhood and adolescent forms of Huntington's disease
-
J. Oliver, and K. Dewhurst Childhood and adolescent forms of Huntington's disease J Neurol Neurosurg Psychiatry 32 1969 455 459
-
(1969)
J Neurol Neurosurg Psychiatry
, vol.32
, pp. 455-459
-
-
Oliver, J.1
Dewhurst, K.2
-
20
-
-
0029093037
-
Neuropsychological characteristics of Huntington's disease carriers: A double blind study
-
N.K. Rosenberg, S.A. Sørensen, and A.L. Christensen Neuropsychological characteristics of Huntington's disease carriers: a double blind study J Med Genet 32 1995 600 604
-
(1995)
J Med Genet
, vol.32
, pp. 600-604
-
-
Rosenberg, N.K.1
Sørensen, S.A.2
Christensen, A.L.3
-
21
-
-
28944446477
-
Oligoproline effects on polyglutamine conformation and aggregation
-
DOI 10.1016/j.jmb.2005.10.053, PII S0022283605013008
-
A. Bhattacharyya, A.K. Thakur, V.M. Chellgren, G. Thiagarajan, A.D. Williams, and B.W. Chellgren Oligoproline effects on polyglutamine conformation and aggregation J Mol Biol 355 2006 524 535 (Pubitemid 41785754)
-
(2006)
Journal of Molecular Biology
, vol.355
, Issue.3
, pp. 524-535
-
-
Bhattacharyya, A.1
Thakur, A.K.2
Chellgren, V.M.3
Thiagarajan, G.4
Williams, A.D.5
Chellgren, B.W.6
Creamer, T.P.7
Wetzel, R.8
-
22
-
-
33846025461
-
Critical role of the proline-rich region in Huntingtin for aggregation and cytotoxicity in yeast
-
DOI 10.1074/jbc.M605558200
-
B. Dehay, and A. Bertolotti Critical role of the proline-rich region in Huntingtin for aggregation and cytotoxicity in yeast J Biol Chem 281 2006 35608 35615 (Pubitemid 46041291)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.47
, pp. 35608-35615
-
-
Dehay, B.1
Bertolotti, A.2
|