-
1
-
-
0029151475
-
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
-
Cancel G, Abbas N, Stevanin G, Durr A, Chneiweiss H, Neri D, Duyckaerts C, Penet C, Cann HM, Agid Y, Brice A (1995) Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 57:809-816.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 809-816
-
-
Cancel, G.1
Abbas, N.2
Stevanin, G.3
Durr, A.4
Chneiweiss, H.5
Neri, D.6
Duyckaerts, C.7
Penet, C.8
Cann, H.M.9
Agid, Y.10
Brice, A.11
-
2
-
-
0029035710
-
Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
-
Chong SS, McCall AE, Cota J, Subramony SH, Orr HT, Hughes MR, Zoghbi HY (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genetics 10:344-350.
-
(1995)
Nature Genetics
, 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
-
3
-
-
0027495515
-
Evidence for a mechanism predisposing to intergener-ational CAG repeat instability in spinocerebellar ataxia type 1
-
Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidence for a mechanism predisposing to intergener-ational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet 5:254-258.
-
(1993)
Nature Genet
, vol.5
, pp. 254-258
-
-
Chung, M.Y.1
Ranum, L.P.2
Duvick, L.A.3
Servadio, A.4
Zoghbi, H.Y.5
Orr, H.T.6
-
4
-
-
0027240431
-
Trinucle-otide repeat length instability and age of onset in Huntington's disease
-
Duyao M, Ambrose C, Myers R, Novelletto A, Persichetti F, Frontali M, Folstein S, Ross C, Franz M, Abbott M, Y. G, Conneally R Young A, Penney J, Hollingsworth Z, Shoulson I, Lazzarini A, Falek A, Koroshetz W, Sax D, Bird E, Vonsattel J, Bonilla E, Alvir J, Bickham Conde J, Cha J-H, Dure L, Gomez F, Ramos M, Sanchez-Ramos J, Snodgrass S, de Young M, Wexler N, Moscowitz C, Penchaszadeh G, MacFarlane H, Anderson M, Jenkins B, Srinidhi J, Barnes G, Gusella J, MacDonald M (1993) Trinucle-otide repeat length instability and age of onset in Huntington's disease. Nature Genet 4:387-392.
-
(1993)
Nature Genet
, vol.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
Novelletto, A.4
Persichetti, F.5
Frontali, M.6
Folstein, S.7
Ross, C.8
Franz, M.9
Abbott, M.Y.G.10
Conneally, P.11
Young, A.12
Penney, J.13
Hollingsworth, Z.14
Shoulson, I.15
Lazzarini, A.16
Falek, A.17
Koroshetz, W.18
Sax, D.19
Bird, E.20
Vonsattel, J.21
Bonilla, E.22
Alvir, J.23
Bickham Conde, J.24
Cha, J.-H.25
Dure, L.26
Gomez, F.27
Ramos, M.28
Sanchez-Ramos, J.29
Snodgrass, S.30
de Young, M.31
Wexler, N.32
Moscowitz, C.33
Penchaszadeh, G.34
MacFarlane, H.35
Anderson, M.36
Jenkins, B.37
Srinidhi, J.38
Barnes, G.39
Gusella, J.40
MacDonald, M.41
more..
-
5
-
-
0028882406
-
Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth
-
Giuniti P, Sweeney MG, Harding AE (1995) Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth. Brain 118:1077-1085.
-
(1995)
Brain
, vol.118
, pp. 1077-1085
-
-
Giuniti, P.1
Sweeney, M.G.2
Harding, A.E.3
-
6
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntingon'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
-
-
Huntingon's Disease Collaborative Research, Group.1
-
7
-
-
0028229119
-
Effects of trinucleotide repeat length and parental sex on phenotypic variation in Spinocerebellar Ataxia I
-
Jodice C, Malaspina P, Persichetti F, Novelletto A, Spardaro M, Giunti P, Morocutti C, Terrenato L, Harding AE, Frontaili M (1994) Effects of trinucleotide repeat length and parental sex on phenotypic variation in Spinocerebellar Ataxia I. Am J Hum Genet 54:959-965.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 959-965
-
-
Jodice, C.1
Malaspina, P.2
Persichetti, F.3
Novelletto, A.4
Spardaro, M.5
Giunti, P.6
Morocutti, C.7
Terrenato, L.8
Harding, A.E.9
Frontaili, M.10
-
8
-
-
0029049256
-
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
-
Kameya T, Abe K, Aoki M, Sahara M, Tobita M, Konno H, Itoyama Y (1995) Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 45:1587-1594.
-
(1995)
Neurology
, vol.45
, pp. 1587-1594
-
-
Kameya, T.1
Abe, K.2
Aoki, M.3
Sahara, M.4
Tobita, M.5
Konno, H.6
Itoyama, Y.7
-
9
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Narumiya S, Kakizuka A (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8:221-228.
-
(1994)
Nature Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Narumiya, S.12
Kakizuka, A.13
-
10
-
-
0030047191
-
Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: A variant nucleotide is associated with the number of CAG repeats
-
Limprasert P, Nouri N, Heyman RA, Nopparatana C, Kamonsilp M, Deininger PL, Keats BJB (1996) Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: A variant nucleotide is associated with the number of CAG repeats. Human Molec Genet 5:207-213.
-
(1996)
Human Molec Genet
, vol.5
, pp. 207-213
-
-
Limprasert, P.1
Nouri, N.2
Heyman, R.A.3
Nopparatana, C.4
Kamonsilp, M.5
Deininger, P.L.6
Keats, B.J.B.7
-
11
-
-
0027363951
-
Gametic but not somatic instability of CAG repeat length in Huntington's disease
-
MacDonald ME, Barnes G, Srinidhi J, Duyao MR Ambrose CM, Myers RH, Gray J, Conneally PM, Young A, Penney J, Shoulson I, Hollingsworth Z, Koroshetz W, Bird E, Vonsattel JR Bonilla E, Moscowitz C, Penchaszadeh G, Brzustowicz L, Alvir J, Bickham Conde J, Cha J-H, Dure L, Gomez F, Ramos- Arroyo M, Sanchez-Ramos J, Snodgress SR, de Young M, Wexler NS, MacFarlane H, Anderson MA, Jenkins B, Gusella JF (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.R.4
Ambrose, C.M.5
Myers, R.H.6
Gray, J.7
Conneally, P.M.8
Young, A.9
Penney, J.10
Shoulson, I.11
Hollingsworth, Z.12
Koroshetz, W.13
Bird, E.14
Vonsattel, J.R.15
Bonilla, E.16
Moscowitz, C.17
Penchaszadeh, G.18
Brzustowicz, L.19
Alvir, J.20
Bickham Conde, J.21
Cha, J.-H.22
Dure, L.23
Gomez, F.24
Ramos-Arroyo, M.25
Sanchez-Ramos, J.26
Snodgress, S.R.27
de Young, M.28
Wexler, N.S.29
MacFarlane, H.30
Anderson, M.A.31
Jenkins, B.32
Gusella, J.F.33
more..
-
12
-
-
0029042742
-
Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease
-
Maruyama H, Nakamura S, Matsuyama Z, Sakai T, Doyu M, Sobue G, Seto M, Tsujihata M, Oh-i T, Nishio T, Sunohara N, Takahashi R, Hayashi M, Nishino I, Ohtake Y, Oda T, Nishimura M, Saida T, Matsumoto H, Baba M, Kawaguchi Y, Kakizuka A, Kawakami H (1995) Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease. Human Molec Genet 4:807-812.
-
(1995)
Human Molec Genet
, vol.4
, pp. 807-812
-
-
Maruyama, H.1
Nakamura, S.2
Matsuyama, Z.3
Sakai, T.4
Doyu, M.5
Sobue, G.6
Seto, M.7
Tsujihata, M.8
Oh-i, T.9
Nishio, T.10
Sunohara, N.11
Takahashi, R.12
Hayashi, M.13
Nishino, I.14
Ohtake, Y.15
Oda, T.16
Nishimura, M.17
Saida, T.18
Matsumoto, H.19
Baba, M.20
Kawaguchi, Y.21
Kakizuka, A.22
Kawakami, H.23
more..
-
13
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, Kwiatkowski T Jr., Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LR Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 4:221-226.
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski, T.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.R.9
Zoghbi, H.Y.10
-
14
-
-
0028100732
-
Molecular and clinical correlations in spinocerebellar ataxia type I
-
Ranum LR Chung MY, Banfl S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L, Gomez C, Sandkuijl LA, Orr HT, Zoghbi NY (1994) Molecular and clinical correlations in spinocerebellar ataxia type I. Evidence for familial effects on the age at onset. American J Human Genet 55:244-252.
-
(1994)
Evidence for familial effects on the age at onset. American J Human Genet
, vol.55
, pp. 244-252
-
-
Ranum, L.R.1
Chung, M.Y.2
Banfl, S.3
Bryer, A.4
Schut, L.J.5
Ramesar, R.6
Duvick, L.A.7
McCall, A.8
Subramony, S.H.9
Goldfarb, L.10
Gomez, C.11
Sandkuijl, L.A.12
Orr, H.T.13
Zoghbi, N.Y.14
-
15
-
-
0029134871
-
Spinocerebellar ataxia 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
-
Ranum LR Lundgren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT (1995) Spinocerebellar ataxia 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Human Genet 57: 603-608.
-
(1995)
Am J Human Genet
, vol.57
, pp. 603-608
-
-
Ranum, L.R.1
Lundgren, J.K.2
Schut, L.J.3
Ahrens, M.J.4
Perlman, S.5
Aita, J.6
Bird, T.D.7
Gomez, C.8
Orr, H.T.9
-
16
-
-
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, Igarashi S, Rogaeva EA, Endo K, Rogaev El, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeada M, Lin C, Chi H, Kennedy JL, Lang AE, Wherrett JR, Segawa M, Nomura Y, Yuasa T, Weissenbach J, Yoshida M, Nishizawa M, Kidd KK, Tsuji S, St. George-Hyslop PH (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. Human Molec Genet 4:1137-1146.
-
(1995)
Human Molec Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.L.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
Tsuda, T.11
Takano, H.12
Ikeada, 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
George-Hyslop, P.H.27
more..
-
17
-
-
0028986597
-
Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Hunting-ton disease
-
Telenius H, Almqvist E, Kremer B, Spence N, Squitieri F, Nichol K, Grandell U, Starr E, Benjamin C, Castaldo I, Calabrese O, Anvret M, Goldberg YR Hayden MR (1995) Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Hunting-ton disease. Human Molec Genet 4:189-195.
-
(1995)
Human Molec Genet
, vol.4
, pp. 189-195
-
-
Telenius, H.1
Almqvist, E.2
Kremer, B.3
Spence, N.4
Squitieri, F.5
Nichol, K.6
Grandell, U.7
Starr, E.8
Benjamin, C.9
Castaldo, I.10
Calabrese, O.11
Anvret, M.12
Goldberg, Y.R.13
Hayden, M.R.14
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