-
1
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the Drew family of Walworth
-
Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias: a study of 11 families, including descendants of the Drew family of Walworth. Brain 1982: 105: 1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
2
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Jr Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LPW, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet 1993: 4: 221-226.
-
(1993)
Nature Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
McCall, A.E.7
Duvick, L.A.8
Ranum, L.P.W.9
Zoghbi, H.Y.10
-
3
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, Dejong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet 1996: 14: 269-276.
-
(1996)
Nature Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
Pearlman, S.7
Starkman, S.8
Orozco-Diaz, G.9
Lunkes, A.10
Dejong, P.11
Rouleau, G.A.12
Auburger, G.13
Korenberg, J.R.14
Figueroa, C.15
Sahba, S.16
-
4
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique DIRECT
-
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique DIRECT. Nature Genet 1996: 14: 277-284.
-
(1996)
Nature Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
Wakisaka, A.7
Tashiro, K.8
Ishida, Y.9
Ikeuchi, T.10
Koide, R.11
Saito, M.12
Sato, A.13
Tanaka, T.14
Hanyu, S.15
Takiyama, Y.16
Nishizawa, M.17
Shimizu, N.18
Nomura, Y.19
Segawa, M.20
Iwabuchi, K.21
Eguchi, I.22
Tanaka, H.23
Takahashi, H.24
Tsuji, S.25
more..
-
5
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Sandou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Dürr A, Diderjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet 1996: 14: 285-291.
-
(1996)
Nature Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Sandou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Garnier, J.M.6
Weber, C.7
Mandel, J.L.8
Cancel, G.9
Abbas, N.10
Dürr, A.11
Diderjean, O.12
Stevanin, G.13
Agid, Y.14
Brice, A.15
-
6
-
-
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. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 1994: 8: 221-227.
-
(1994)
Nature Genet
, vol.8
, pp. 221-227
-
-
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
-
7
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary dentatorubral pallidoluysian atrophy (DRPLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S. Unstable expansion of CAG repeat in hereditary dentatorubral pallidoluysian atrophy (DRPLA). Nature Genet 1994: 6: 9-13.
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
8
-
-
0028335386
-
Dentatorubural and pallidoluysian atrophy: Expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komura O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M. Dentatorubural and pallidoluysian atrophy: expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 1994: 6: 14-18.
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komura, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
9
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994: 8: 280-284.
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
10
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nature Genet 1997: 15: 62-69.
-
(1997)
Nature Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
11
-
-
0029882009
-
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentatorubral pallidoluysian atrophy locus
-
Subramony SH, Fratkin JD, Manyam BV, Currier RD. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or dentatorubral pallidoluysian atrophy locus. Movement Disorders 1996: 11: 174-180.
-
(1996)
Movement Disorders
, vol.11
, pp. 174-180
-
-
Subramony, S.H.1
Fratkin, J.D.2
Manyam, B.V.3
Currier, R.D.4
-
12
-
-
0029782230
-
Autosomal dominant pure cerebelllar ataxia: A clinical and genetic analysis of eight Japanese families
-
Ishikawa K, Mizusawa H, Saito M, Tanaka H, Nakajima N, Kondo N, Kanazawa I, Shoji S, Tsuji S. Autosomal dominant pure cerebelllar ataxia: a clinical and genetic analysis of eight Japanese families. Brain 1996: 119: 1173-1182.
-
(1996)
Brain
, vol.119
, pp. 1173-1182
-
-
Ishikawa, K.1
Mizusawa, H.2
Saito, M.3
Tanaka, H.4
Nakajima, N.5
Kondo, N.6
Kanazawa, I.7
Shoji, S.8
Tsuji, S.9
-
13
-
-
0027742974
-
Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity
-
Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A. Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 1993: 116: 1497-1508.
-
(1993)
Brain
, vol.116
, pp. 1497-1508
-
-
Dürr, A.1
Chneiweiss, H.2
Khati, C.3
Stevanin, G.4
Cancel, G.5
Feingold, J.6
Agid, Y.7
Brice, A.8
-
14
-
-
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, Dürr A, Chneiweiss H, Neri C, Duyckaerts C, Penet C, Cann HM, Agid Y, Brice A. Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus. Am J Hum Genet 1995: 57: 809-816.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 809-816
-
-
Cancel, G.1
Abbas, N.2
Stevanin, G.3
Dürr, A.4
Chneiweiss, H.5
Neri, C.6
Duyckaerts, C.7
Penet, C.8
Cann, H.M.9
Agid, Y.10
Brice, A.11
-
15
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in the families with SCA1, SCA2 and SCA3
-
Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, Didierjean O, Brice A, Klockgether T. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in the families with SCA1, SCA2 and SCA3. Brain 1996: 119: 1497-1505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
Dichgans, J.4
Skalej, M.5
Laccone, F.6
Didierjean, O.7
Brice, A.8
Klockgether, T.9
-
16
-
-
0030944114
-
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
-
Geschwind DH, Perlman S, Figueroa CP, Treiman LJ, Pulst SM. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997: 60: 842-850.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 842-850
-
-
Geschwind, D.H.1
Perlman, S.2
Figueroa, C.P.3
Treiman, L.J.4
Pulst, S.M.5
-
17
-
-
0027074176
-
Autosomal dominant pure cerebellar ataxia
-
Frontali M, Spadaro M, Giunti P, Bianco F, Jodice C, Persichetti F, Colazza GB, Lulli P, Terrenato L, Morocutti C. Autosomal dominant pure cerebellar ataxia. Brain 1992: 115: 1647-1654.
-
(1992)
Brain
, vol.115
, pp. 1647-1654
-
-
Frontali, M.1
Spadaro, M.2
Giunti, P.3
Bianco, F.4
Jodice, C.5
Persichetti, F.6
Colazza, G.B.7
Lulli, P.8
Terrenato, L.9
Morocutti, C.10
-
18
-
-
0028217057
-
Spinocerebellar degenerations in Japan: A nationalwide epidemiological and clinical study
-
Hirayama K, Takayanagi T, Nakamura R, Yanagisawa N, Hattori T, Kita K, Yanagimoto S, Fujita M, Nagaoka M, Satomura Y, Sobue I, Iizuka R, Toyokura Y, Satoyoshi E. Spinocerebellar degenerations in Japan: a nationalwide epidemiological and clinical study. Acta Neurol Scand 1994: Suppl. 153: 1-22.
-
(1994)
Acta Neurol Scand
, Issue.153 SUPPL.
, pp. 1-22
-
-
Hirayama, K.1
Takayanagi, T.2
Nakamura, R.3
Yanagisawa, N.4
Hattori, T.5
Kita, K.6
Yanagimoto, S.7
Fujita, M.8
Nagaoka, M.9
Satomura, Y.10
Sobue, I.11
Iizuka, R.12
Toyokura, Y.13
Satoyoshi, E.14
-
19
-
-
0028988941
-
Trinucleotide expansion within the MJD 1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA
-
Schols L, Vieira-Snecker AM, Schols S, Przuntek H, Epplen JT, Riess O. Trinucleotide expansion within the MJD 1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA. Hum Mol Genet 1995: 4: 1001-1005.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1001-1005
-
-
Schols, L.1
Vieira-Snecker, A.M.2
Schols, S.3
Przuntek, H.4
Epplen, J.T.5
Riess, O.6
-
20
-
-
0029134871
-
Spinocerebellar Ataxia Type I and Machado-Joseph Disease: Incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia
-
Ranum LPW, Lundren JK, Schut LJ, Ahrens MJ, Perlman S, Aita J, Bird TD, Gomez C, Orr HT. Spinocerebellar Ataxia Type I and Machado-Joseph Disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995: 57: 603-608.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 603-608
-
-
Ranum, L.P.W.1
Lundren, 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
-
21
-
-
9344245162
-
Frequency of spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
-
Silveira I, Lopes-Cendes F, Kish S, Maciel P, Gaspar C, Coutinho P, Botez MI, Teive H, Arruda W. Frequency of spinocerebellar ataxia type I, dentatorubral pallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology 1996: 46: 214-218.
-
(1996)
Neurology
, vol.46
, pp. 214-218
-
-
Silveira, I.1
Lopes-Cendes, F.2
Kish, S.3
Maciel, P.4
Gaspar, C.5
Coutinho, P.6
Botez, M.I.7
Teive, H.8
Arruda, W.9
-
22
-
-
0028037806
-
The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias
-
Giunti P, Sweeney MG, Spadaro M, Jodice C, Novelleto A, Malaspina P, Frontali M, Harding AE. The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias. Brain 1994: 117: 645-649.
-
(1994)
Brain
, vol.117
, pp. 645-649
-
-
Giunti, P.1
Sweeney, M.G.2
Spadaro, M.3
Jodice, C.4
Novelleto, A.5
Malaspina, P.6
Frontali, M.7
Harding, A.E.8
-
23
-
-
8944252801
-
Spinocerebellar ataxia type 1 in Russia
-
Illarioshkin SN, Slominsky PA, Ovchinnikov IV, Markova ED, Miklina NI, Klyushinikov SA, Shadrina M, Vereshchagin NV, Limborskaya SA, Ivanova-Smolenskaya IA. Spinocerebellar ataxia type 1 in Russia. J Neurol 1996: 243: 506-510.
-
(1996)
J Neurol
, vol.243
, pp. 506-510
-
-
Illarioshkin, S.N.1
Slominsky, P.A.2
Ovchinnikov, I.V.3
Markova, E.D.4
Miklina, N.I.5
Klyushinikov, S.A.6
Shadrina, M.7
Vereshchagin, N.V.8
Limborskaya, S.A.9
Ivanova-Smolenskaya, I.A.10
-
24
-
-
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. Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan. Neurology 1995: 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
-
25
-
-
9044227266
-
Clinical features and natural history of spinocerebellar ataxia type 1
-
Sasaki H, Fukazawa T, Yanagihara T, Hamada T, Shima K, Matsumoto A, Hashimoto K, Ito N, Wakisaka A, Tashiro K. Clinical features and natural history of spinocerebellar ataxia type 1. Acta Neurol Scand 1996: 93: 64-71.
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 64-71
-
-
Sasaki, H.1
Fukazawa, T.2
Yanagihara, T.3
Hamada, T.4
Shima, K.5
Matsumoto, A.6
Hashimoto, K.7
Ito, N.8
Wakisaka, A.9
Tashiro, K.10
-
26
-
-
8244220324
-
Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families
-
Cancel G, Dürr A, Didierjean O, Imbert G, Bürk K, Lezin A, Belal S, Benomar A, Abada-Bendib M, Vial C, Guimaraes J, Chneiweiss H, Stevanin G, Yvert G, Abbas N, Saudou F, Lebre AS, Yahyaoui M, Hentati F, Vernant JC, Klockgether T, Mandel JL, Agid Y, Brice A. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet 1997: 6: 709-715.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 709-715
-
-
Cancel, G.1
Dürr, A.2
Didierjean, O.3
Imbert, G.4
Bürk, K.5
Lezin, A.6
Belal, S.7
Benomar, A.8
Abada-Bendib, M.9
Vial, C.10
Guimaraes, J.11
Chneiweiss, H.12
Stevanin, G.13
Yvert, G.14
Abbas, N.15
Saudou, F.16
Lebre, A.S.17
Yahyaoui, M.18
Hentati, F.19
Vernant, J.C.20
Klockgether, T.21
Mandel, J.L.22
Agid, Y.23
Brice, A.24
more..
-
27
-
-
0030936978
-
Machado-Joseph disease: Clinical, molecular, and metabolic characterization in Chinese kindreds
-
Soong B-w, Cheng C-h, Liu R-s, Shan D-e. Machado-Joseph disease: clinical, molecular, and metabolic characterization in Chinese kindreds. Ann Neurol 1997: 41: 446-452.
-
(1997)
Ann Neurol
, vol.41
, pp. 446-452
-
-
Soong, B.-W.1
Cheng, C.-H.2
Liu, R.-S.3
Shan, D.-E.4
-
28
-
-
0010551761
-
A molecular genetic study on autosomal dominant ataxias in Japanese: Comparison of the prevalences and CAG repeat expansions among spinocerebellar ataxia (SCA1), spinocerebellar ataxia type 2 (SCA2), Machado-Joseph disease (MJD) and dentatorubral pallidoluysian atrophy (DRPLA)
-
Takano H, Ikeuchi T, Igarashi S, Oyake M, Koide R, Sasaki R, Sanpei K, Sasaki H, Wakisaka A, Tashiro K, Iwabuchi K, Takiyama Y, Nishizawa M, Tanaka H, Tsuji S. A molecular genetic study on autosomal dominant ataxias in Japanese: comparison of the prevalences and CAG repeat expansions among spinocerebellar ataxia (SCA1), spinocerebellar ataxia type 2 (SCA2), Machado-Joseph disease (MJD) and dentatorubral pallidoluysian atrophy (DRPLA) (abstract). Neurology 1997: 48: A209-210.
-
(1997)
Neurology
, vol.48
-
-
Takano, H.1
Ikeuchi, T.2
Igarashi, S.3
Oyake, M.4
Koide, R.5
Sasaki, R.6
Sanpei, K.7
Sasaki, H.8
Wakisaka, A.9
Tashiro, K.10
Iwabuchi, K.11
Takiyama, Y.12
Nishizawa, M.13
Tanaka, H.14
Tsuji, S.15
-
29
-
-
8544255538
-
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6)
-
Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet 1997: 6: 1283-1287.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1283-1287
-
-
Matsuyama, Z.1
Kawakami, H.2
Maruyama, H.3
Izumi, Y.4
Komure, O.5
Udaka, F.6
Kameyama, M.7
Nishio, T.8
Kuroda, Y.9
Nishimura, M.10
Nakamura, S.11
-
30
-
-
8544235014
-
SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene
-
Riess O, Schöls L, Böttger H, Nolte D, Vieira-Saecker AMM, Schimming C, Kreuz F, Macek Jr M, Krebsová A, Sen MM, Klockgether T, Zühlke C, Laccone FA. SCA6 is caused by moderate CAG expansion in the α1A-voltage-dependent calcium channel gene. Hum Mol Genet 1997: 6: 1289-1293.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1289-1293
-
-
Riess, O.1
Schöls, L.2
Böttger, H.3
Nolte, D.4
Vieira-Saecker, A.M.M.5
Schimming, C.6
Kreuz, F.7
Macek Jr., M.8
Krebsová, A.9
Sen, M.M.10
Klockgether, T.11
Zühlke, C.12
Laccone, F.A.13
-
31
-
-
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 disease
-
Takiyama Y, Igarashi S, Rogaeva EA, Endo K, Rogaev EI, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M, Tsuda T, Takano H, Ikeda 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. 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 disease. Hum Mol Genet 1995: 4: 1137-1146.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1137-1146
-
-
Takiyama, Y.1
Igarashi, S.2
Rogaeva, E.A.3
Endo, K.4
Rogaev, E.I.5
Tanaka, H.6
Sherrington, R.7
Sanpei, K.8
Liang, Y.9
Saito, M.10
Tsuda, T.11
Takano, H.12
Ikeda, 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
St George-Hyslop, P.H.27
more..
-
32
-
-
0028229119
-
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
-
Jodice C, Malaspina P, Persichetti F, Novelletto A, Spadaro M, Giunti P, Morocutti C, Terenato L, Harding AE, Frontali M. Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. Am J Hum Genet 1994: 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
Spadaro, M.5
Giunti, P.6
Morocutti, C.7
Terenato, L.8
Harding, A.E.9
Frontali, M.10
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