-
1
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schols L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
2
-
-
71849083831
-
Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n
-
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Ysunemi T, et al. Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 2009;85:544-57.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 544-557
-
-
Sato, N.1
Amino, T.2
Kobayashi, K.3
Asakawa, S.4
Ishiguro, T.5
Ysunemi, T.6
-
3
-
-
22544448383
-
An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains
-
Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005;77:280-96.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 280-296
-
-
Ishikawa, K.1
Toru, S.2
Tsunemi, T.3
Li, M.4
Kobayashi, K.5
Yokota, T.6
-
4
-
-
23844449708
-
A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III
-
Owada K, Ishikawa K, Toru S, Ishida G, Gomyoda M, Tao O, et al. A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III. Neurology 2005;65:629-32.
-
(2005)
Neurology
, vol.65
, pp. 629-632
-
-
Owada, K.1
Ishikawa, K.2
Toru, S.3
Ishida, G.4
Gomyoda, M.5
Tao, O.6
-
5
-
-
52449086856
-
Second consensus statement on the diagnosis of multiple system atrophy
-
Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology 2008;71:670-6.
-
(2008)
Neurology
, vol.71
, pp. 670-676
-
-
Gilman, S.1
Wenning, G.K.2
Low, P.A.3
Brooks, D.J.4
Mathias, C.J.5
Trojanowski, J.Q.6
-
6
-
-
36148990665
-
Sporadic adult onset ataxia of unknown etiology: A clinical, electrophysiological and imaging study
-
Abele M, Minnerop M, Urbach H, Specht K, Klockgether T. Sporadic adult onset ataxia of unknown etiology: a clinical, electrophysiological and imaging study. J Neurol 2007;254:1384-9.
-
(2007)
J Neurol
, vol.254
, pp. 1384-1389
-
-
Abele, M.1
Minnerop, M.2
Urbach, H.3
Specht, K.4
Klockgether, T.5
-
7
-
-
3042595333
-
Spinocerebellar ataxia type 8: Molecular genetic comparisons and haplotype analysis of 37 families with ataxia
-
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, et al. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. Am J Hum Genet 2004;75:3-16.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 3-16
-
-
Ikeda, Y.1
Dalton, J.C.2
Moseley, M.L.3
Gardner, K.L.4
Bird, T.D.5
Ashizawa, T.6
-
8
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Ikeda Y, Shizuka M, Watanabe M, Okamoto K, Shoji M. Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. Neurology 2000;54:950-5.
-
(2000)
Neurology
, vol.54
, pp. 950-955
-
-
Ikeda, Y.1
Shizuka, M.2
Watanabe, M.3
Okamoto, K.4
Shoji, M.5
-
9
-
-
34247604586
-
Hearing impairment and health-related quality of life: The Blue Mountains Hearing Study
-
Chia EM, Wang JJ, Rochtchina E, Cumming RR, Newall P, Mitchell P. Hearing impairment and health-related quality of life: the Blue Mountains Hearing Study. Ear Hear 2007;28:187-95.
-
(2007)
Ear Hear
, vol.28
, pp. 187-195
-
-
Chia, E.M.1
Wang, J.J.2
Rochtchina, E.3
Cumming, R.R.4
Newall, P.5
Mitchell, P.6
-
10
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the '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 'the Drew family of Walworth'. Brain 1982;105:1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
11
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol 1993;61:1-14.
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
12
-
-
68449088763
-
Clinical and genetic characterization of 16qlinked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan
-
Hirano R, Takashima H, Okubo R, Okamoto Y, Maki Y, Ishida S, et al. Clinical and genetic characterization of 16qlinked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan. J Hum Genet 2009;54:377-81.
-
(2009)
J Hum Genet
, vol.54
, pp. 377-381
-
-
Hirano, R.1
Takashima, H.2
Okubo, R.3
Okamoto, Y.4
Maki, Y.5
Ishida, S.6
-
13
-
-
33749852844
-
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
-
Onodera Y, Aoki M, Mizuno H, Warita H, Shiga Y, Itoyama Y. Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese. Neurology 2006;67:1300-2.
-
(2006)
Neurology
, vol.67
, pp. 1300-1302
-
-
Onodera, Y.1
Aoki, M.2
Mizuno, H.3
Warita, H.4
Shiga, Y.5
Itoyama, Y.6
-
14
-
-
15244339141
-
Regional features of autosomal-dominant cerebellar ataxia in Nagano: Clinical and molecular genetic analysis of 86 families
-
Shimizu Y, Yoshida K, Okano T, Ohara S, Hashimoto T, Fukushima Y, et al. Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families. J Hum Genet 2004;49:610-6.
-
(2004)
J Hum Genet
, vol.49
, pp. 610-616
-
-
Shimizu, Y.1
Yoshida, K.2
Okano, T.3
Ohara, S.4
Hashimoto, T.5
Fukushima, Y.6
-
15
-
-
65549146738
-
Severity and progression rate of cerebellar ataxia in 16qlinked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan
-
Yoshida K, Shimizu Y, Morita H, Okano T, Sakai H, Ohata T, et al. Severity and progression rate of cerebellar ataxia in 16qlinked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano Area of Japan. Cerebellum 2009;8:46-51.
-
(2009)
Cerebellum
, vol.8
, pp. 46-51
-
-
Yoshida, K.1
Shimizu, Y.2
Morita, H.3
Okano, T.4
Sakai, H.5
Ohata, T.6
-
16
-
-
33748082650
-
16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study
-
Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, et al. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study. J Neurol Sci 2006;247:180-6.
-
(2006)
J Neurol Sci
, vol.247
, pp. 180-186
-
-
Ouyang, Y.1
Sakoe, K.2
Shimazaki, H.3
Namekawa, M.4
Ogawa, T.5
Ando, Y.6
-
17
-
-
34249075682
-
Clinical and genetic characterizations of 16qlinked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
-
Nozaki H, Ikeuchi T, Kawakami A, Kimura A, Koide R, Tsuchiya M, et al. Clinical and genetic characterizations of 16qlinked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Mov Disord 2007;22:857-62.
-
(2007)
Mov Disord
, vol.22
, pp. 857-862
-
-
Nozaki, H.1
Ikeuchi, T.2
Kawakami, A.3
Kimura, A.4
Koide, R.5
Tsuchiya, M.6
-
18
-
-
33744969581
-
A-16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
-
Ohata T, Yoshida K, Sakai H, Hamanoue H, Mizuguchi T, Shimizu Y, et al. A-16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano. J Hum Genet 2006;51:461-6.
-
(2006)
J Hum Genet
, vol.51
, pp. 461-466
-
-
Ohata, T.1
Yoshida, K.2
Sakai, H.3
Hamanoue, H.4
Mizuguchi, T.5
Shimizu, Y.6
-
19
-
-
19944432475
-
Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families
-
Hirano R, Takashima H, Okubo R, Tajima K, Okamoto Y, Ishida S, et al. Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families. Neurogenetics 2004;5:215-21.
-
(2004)
Neurogenetics
, vol.5
, pp. 215-221
-
-
Hirano, R.1
Takashima, H.2
Okubo, R.3
Tajima, K.4
Okamoto, Y.5
Ishida, S.6
-
20
-
-
34547406281
-
Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan
-
Hayashi M, Adachi Y, Mori M, Nakano T, Nakashima K. Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan. Acta Neurol Scand 2007;116:123-7.
-
(2007)
Acta Neurol Scand
, vol.116
, pp. 123-127
-
-
Hayashi, M.1
Adachi, Y.2
Mori, M.3
Nakano, T.4
Nakashima, K.5
-
21
-
-
34848824687
-
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: A study of 113 Japanese families
-
Basri R, Yabe I, Soma H, Sasaki H. Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. J Hum Genet 2007;52:848-55.
-
(2007)
J Hum Genet
, vol.52
, pp. 848-855
-
-
Basri, R.1
Yabe, I.2
Soma, H.3
Sasaki, H.4
-
22
-
-
0030163532
-
Hearing acuity in the elderly in Japan
-
Yagi M, Kawabata I, Sato T, Toriyama M, Yamashita K, Makishima K, et al. [Hearing acuity in the elderly in Japan]. Nippon Jibiinkoka Gakkai Kaiho 1996;99:869-74.
-
(1996)
Nippon Jibiinkoka Gakkai Kaiho
, vol.99
, pp. 869-874
-
-
Yagi, M.1
Kawabata, I.2
Sato, T.3
Toriyama, M.4
Yamashita, K.5
Makishima, K.6
-
23
-
-
34547135675
-
Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
-
Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, et al. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet 2007;52:643-9.
-
(2007)
J Hum Genet
, vol.52
, pp. 643-649
-
-
Amino, T.1
Ishikawa, K.2
Toru, S.3
Ishiguro, T.4
Sato, N.5
Tsunemi, T.6
-
24
-
-
57849097570
-
Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia
-
Zhou Y, Song X, Yi J, Jiang H, Wang J, Liao S, et al. [Study on the single-nucleotide substitution (c.-16C to T) of the PURATROPHIN-1 gene in Chinese patients with spinocerebellar ataxia]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008;25:646-8.
-
(2008)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.25
, pp. 646-648
-
-
Zhou, Y.1
Song, X.2
Yi, J.3
Jiang, H.4
Wang, J.5
Liao, S.6
-
25
-
-
34249016915
-
The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients
-
Cagnoli C, Brussino A, Di Gregorio E, Brusco A, Stevanin G, Durr A, et al. The (-16C>T) substitution in the PLEKHG4 gene is not present among European ADCA patients. Mov Disord 2007;22:752-3.
-
(2007)
Mov Disord
, vol.22
, pp. 752-753
-
-
Cagnoli, C.1
Brussino, A.2
di Gregorio, E.3
Brusco, A.4
Stevanin, G.5
Durr, A.6
-
26
-
-
33646448422
-
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population
-
Wieczorek S, Arning L, Alheite I, Epplen JT. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet 2006;51:363-7.
-
(2006)
J Hum Genet
, vol.51
, pp. 363-367
-
-
Wieczorek, S.1
Arning, L.2
Alheite, I.3
Epplen, J.T.4
-
27
-
-
34249799937
-
16q-linked autosomal dominant cerebellar ataxia in a Korean family
-
Lee PH, Park HY, Jeong SY, Hong JH, Kim HJ. 16q-linked autosomal dominant cerebellar ataxia in a Korean family. Eur J Neurol 2007;14:e16-7.
-
(2007)
Eur J Neurol
, vol.14
-
-
Lee, P.H.1
Park, H.Y.2
Jeong, S.Y.3
Hong, J.H.4
Kim, H.J.5
|