-
1
-
-
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 (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
-
-
-
2
-
-
33644658215
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao M et al (1993) Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 5:168-173
-
(1993)
Nat Genet
, vol.5
, pp. 168-173
-
-
Duyao, M.1
-
3
-
-
0027176364
-
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease
-
Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, Graham RK, Hayden MR (1993) The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet 4:398-403
-
(1993)
Nat Genet
, vol.4
, pp. 398-403
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Kremer, B.3
Telenius, H.4
Theilmann, J.5
Adam, S.6
Starr, E.7
Squitieri, F.8
Lin, B.9
Kalchman, M.A.10
Graham, R.K.11
Hayden, M.R.12
-
4
-
-
0027261537
-
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
-
Snell RG, MacMillan JC, Cheadle JP, Fenton I, Lazarou LP, Davies P, MacDonald ME, Gusella JF, Harper PS, Shaw DJ (1993) Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet 4:393-397
-
(1993)
Nat Genet
, vol.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
-
5
-
-
24344482766
-
Juvenile onset Huntington disease resulting from a very large maternal expansion
-
Nahhas FA, Garbern J, Krajewski KM, Roa BB, Feldman GL (2005) Juvenile onset Huntington disease resulting from a very large maternal expansion. Am J Med Genet A 137A:328-331
-
(2005)
Am J Med Genet A
, vol.137 A
, pp. 328-331
-
-
Nahhas, F.A.1
Garbern, J.2
Krajewski, K.M.3
Roa, B.B.4
Feldman, G.L.5
-
6
-
-
11844250016
-
Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes
-
Chattopadhyay B, Baksi K, Mukhopadhyay S, Bhattacharyya NP (2005) Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes. Neurosci Lett 374:81-86
-
(2005)
Neurosci Lett
, vol.374
, pp. 81-86
-
-
Chattopadhyay, B.1
Baksi, K.2
Mukhopadhyay, S.3
Bhattacharyya, N.P.4
-
7
-
-
0030937818
-
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
-
U S A
-
Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D (1997) 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 94:3872-3876
-
(1997)
Proc Natl Acad Sci
, 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
-
8
-
-
15444363304
-
NR2A and NR2B receptor gene variations modify age at onset in Huntington disease
-
Arning L, Kraus PH, Valentin S, Saft C, Andrich J, Epplen JT (2005) NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Neurogenetics 6:25-28
-
(2005)
Neurogenetics
, vol.6
, pp. 25-28
-
-
Arning, L.1
Kraus, P.H.2
Valentin, S.3
Saft, C.4
Andrich, J.5
Epplen, J.T.6
-
9
-
-
3242659833
-
Onset and rate of striatal atrophy in preclinical Huntington disease
-
Aylward EH, Sparks BF, Field KM, Yallapragada V, Shpritz BD, Rosenblatt A, Brandt J, Gourley LM, Liang K, Zhou H, Margolis RL, Ross CA (2004) Onset and rate of striatal atrophy in preclinical Huntington disease. Neurology 63:66-72
-
(2004)
Neurology
, vol.63
, pp. 66-72
-
-
Aylward, E.H.1
Sparks, B.F.2
Field, K.M.3
Yallapragada, V.4
Shpritz, B.D.5
Rosenblatt, A.6
Brandt, J.7
Gourley, L.M.8
Liang, K.9
Zhou, H.10
Margolis, R.L.11
Ross, C.A.12
-
10
-
-
0022395922
-
Neuropathological classification of Huntington's disease
-
Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EPJ (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, E.P.J.6
-
11
-
-
0034644203
-
A one-hit model of cell death in inherited neuronal degenerations
-
Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR, Lumsden CJ, McInnes RR (2000) A one-hit model of cell death in inherited neuronal degenerations. Nature 406:195-199
-
(2000)
Nature
, vol.406
, pp. 195-199
-
-
Clarke, G.1
Collins, R.A.2
Leavitt, B.R.3
Andrews, D.F.4
Hayden, M.R.5
Lumsden, C.J.6
McInnes, R.R.7
-
12
-
-
0035849879
-
Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats
-
Perutz MF, Windle AH (2001) Cause of neural death in neurodegenerative diseases attributable to expansion of glutamine repeats. Nature 412:143-144
-
(2001)
Nature
, vol.412
, pp. 143-144
-
-
Perutz, M.F.1
Windle, A.H.2
-
13
-
-
0035949785
-
Striatal volume loss in HD as measured by MRI and the influence of CAG repeat
-
Rosas HD, Goodman J, Chen YI, Jenkins BG, Kennedy DN, Makris N, Patti M, Seidman LJ, Beal MF, Koroshetz WJ (2001) Striatal volume loss in HD as measured by MRI and the influence of CAG repeat. Neurology 57:1025-1028
-
(2001)
Neurology
, vol.57
, pp. 1025-1028
-
-
Rosas, H.D.1
Goodman, J.2
Chen, Y.I.3
Jenkins, B.G.4
Kennedy, D.N.5
Makris, N.6
Patti, M.7
Seidman, L.J.8
Beal, M.F.9
Koroshetz, W.J.10
-
14
-
-
0030612119
-
Dopamine D1 and D2 receptor gene expression in the striatum in Huntington's disease
-
Augood SJ, Faull RL, Emson PC (1997) Dopamine D1 and D2 receptor gene expression in the striatum in Huntington's disease. Ann Neurol 42:215-221
-
(1997)
Ann Neurol
, vol.42
, pp. 215-221
-
-
Augood, S.J.1
Faull, R.L.2
Emson, P.C.3
-
15
-
-
0032747164
-
Huntington's disease progression: PET and clinical observations
-
Andrews TC, Weeks RA, Turjanski N, Gunn RN, Watkins LHA, Sahakian B, Hodges JR, Rosser AE, Wood NW, Brooks DJ (1999) Huntington's disease progression: PET and clinical observations. Brain 122:2353-2363
-
(1999)
Brain
, vol.122
, pp. 2353-2363
-
-
Andrews, T.C.1
Weeks, R.A.2
Turjanski, N.3
Gunn, R.N.4
Watkins, L.H.A.5
Sahakian, B.6
Hodges, J.R.7
Rosser, A.E.8
Wood, N.W.9
Brooks, D.J.10
-
16
-
-
0028799793
-
Early loss of neostriatal striosome neurons in Huntington's disease
-
Hedreen JC, Folstein SE (1995) Early loss of neostriatal striosome neurons in Huntington's disease. J Neuropathol Exp Neurol 54:105-120
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 105-120
-
-
Hedreen, J.C.1
Folstein, S.E.2
-
17
-
-
0036345704
-
The distribution of structural neuropathology in pre-clinical Huntington's disease
-
Thieben MJ, Duggins AJ, Good CD, Gomes L, Mahant N, Richards F, McCusker E, Frackowiak RS (2002) The distribution of structural neuropathology in pre-clinical Huntington's disease. Brain 125:1815-1828
-
(2002)
Brain
, vol.125
, pp. 1815-1828
-
-
Thieben, M.J.1
Duggins, A.J.2
Good, C.D.3
Gomes, L.4
Mahant, N.5
Richards, F.6
McCusker, E.7
Frackowiak, R.S.8
-
18
-
-
85056013302
-
Cortical and striatal neurone number in Huntington's disease
-
Berl
-
Heinsen H, Strik M, Bauer M, Luther K, Ulmar G, Gangnus D, Jungkunz G, Eisenmenger W, Gotz M (1994) Cortical and striatal neurone number in Huntington's disease. Acta Neuropathol (Berl) 88:320-333
-
(1994)
Acta Neuropathol
, vol.88
, pp. 320-333
-
-
Heinsen, H.1
Strik, M.2
Bauer, M.3
Luther, K.4
Ulmar, G.5
Gangnus, D.6
Jungkunz, G.7
Eisenmenger, W.8
Gotz, M.9
-
19
-
-
0035827818
-
Familial influence on age of onset among siblings with Huntington disease
-
Rosenblatt A, Brinkman RR, Liang KY, Almqvist EW, Margolis RL, Huang CY, Sherr M, Franz ML, Abbott MH, Hayden MR, Ross CA (2001) Familial influence on age of onset among siblings with Huntington disease. Am J Med Genet 105:399-403
-
(2001)
Am J Med Genet
, vol.105
, pp. 399-403
-
-
Rosenblatt, A.1
Brinkman, R.R.2
Liang, K.Y.3
Almqvist, E.W.4
Margolis, R.L.5
Huang, C.Y.6
Sherr, M.7
Franz, M.L.8
Abbott, M.H.9
Hayden, M.R.10
Ross, C.A.11
-
20
-
-
0028099274
-
Trinucleotide repeat length and progression of illness in Huntington's disease
-
Kieburtz K, MacDonald M, Shih C, Feigin A, Steinberg K, Bordwell K, Zimmerman C, Srinidhi J, Sotack J, Gusella J (1994) Trinucleotide repeat length and progression of illness in Huntington's disease. J Med Genet 31:872-874
-
(1994)
J Med Genet
, vol.31
, pp. 872-874
-
-
Kieburtz, K.1
MacDonald, M.2
Shih, C.3
Feigin, A.4
Steinberg, K.5
Bordwell, K.6
Zimmerman, C.7
Srinidhi, J.8
Sotack, J.9
Gusella, J.10
-
21
-
-
0141615751
-
Diagnosis of Huntington disease
-
Margolis RL, Ross CA (2003) Diagnosis of Huntington disease. Clin Chem 49:1726-1732
-
(2003)
Clin Chem
, vol.49
, pp. 1726-1732
-
-
Margolis, R.L.1
Ross, C.A.2
-
22
-
-
0034639291
-
Family and molecular data for a fine analysis of age at onset in Huntington disease
-
Squitieri F, Sabbadini G, Mandich P, Gellera C, Di Maria E, Bellone E, Castellotti B, Nargi E, de Grazia U, Frontali M, Novelletto A (2000) Family and molecular data for a fine analysis of age at onset in Huntington disease. Am J Med Genet 95:366-373
-
(2000)
Am J Med Genet
, vol.95
, pp. 366-373
-
-
Squitieri, F.1
Sabbadini, G.2
Mandich, P.3
Gellera, C.4
Di Maria, E.5
Bellone, E.6
Castellotti, B.7
Nargi, E.8
De Grazia, U.9
Frontali, M.10
Novelletto, A.11
-
23
-
-
0032518739
-
Choosing among generalized linear models applied to medical data
-
Lindsey JK, Jones B (1998) Choosing among generalized linear models applied to medical data. Stat Med 17:59-68
-
(1998)
Stat Med
, vol.17
, pp. 59-68
-
-
Lindsey, J.K.1
Jones, B.2
-
24
-
-
1842477303
-
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
-
Langbehn DR, Brinkman RR, Falush D, Paulsen JS, Hayden MR, International Huntington's Disease Collaborative Group (2004) A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet 65:267-277
-
(2004)
Clin Genet
, vol.65
, pp. 267-277
-
-
Langbehn, D.R.1
Brinkman, R.R.2
Falush, D.3
Paulsen, J.S.4
Hayden, M.R.5
-
25
-
-
0942298741
-
Different phenotypic expression in monozygotic twins with Huntington disease
-
Anca MH, Gazit E, Loewenthal R, Ostrovsky O, Frydman M, Giladi N (2004) Different phenotypic expression in monozygotic twins with Huntington disease. Am J Med Genet A 124:89-91
-
(2004)
Am J Med Genet A
, vol.124
, pp. 89-91
-
-
Anca, M.H.1
Gazit, E.2
Loewenthal, R.3
Ostrovsky, O.4
Frydman, M.5
Giladi, N.6
|