-
1
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T etal. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996; 14: 269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
2
-
-
0020508579
-
Menzel's hereditary ataxia with slow eye movements and myoclonus: a clinico-pathological study
-
Rondont P, De Recondo J, Davous P, Vedrenne C. Menzel's hereditary ataxia with slow eye movements and myoclonus: a clinico-pathological study. J Neurol Sci 1983; 61: 65-80.
-
(1983)
J Neurol Sci
, vol.61
, pp. 65-80
-
-
Rondont, P.1
De Recondo, J.2
Davous, P.3
Vedrenne, C.4
-
3
-
-
0029611008
-
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
-
Dürr A, Smadja D, Cancel G etal. Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families. Brain 1995; 118: 1573-1581.
-
(1995)
Brain
, vol.118
, pp. 1573-1581
-
-
Dürr, A.1
Smadja, D.2
Cancel, G.3
-
4
-
-
0034718577
-
Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese
-
Gwinn-Hardy K, Chen JY, Liu HC etal. Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology 2000; 55: 800-805.
-
(2000)
Neurology
, vol.55
, pp. 800-805
-
-
Gwinn-Hardy, K.1
Chen, J.Y.2
Liu, H.C.3
-
5
-
-
4444314941
-
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
-
Furtado S, Payami H, Lockhart PJ etal. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004; 19: 848-852.
-
(2004)
Mov Disord
, vol.19
, pp. 848-852
-
-
Furtado, S.1
Payami, H.2
Lockhart, P.J.3
-
6
-
-
77951935739
-
An autopsy case of SCA2 with parkinsonian phenotype
-
In Japanese
-
Yomono HS, Kurisaki H, Hebisawa A, Sakiyama Y, Saito Y, Murayama S. An autopsy case of SCA2 with parkinsonian phenotype. Clin Neurol 2010; 50: 156-162. (In Japanese.)
-
(2010)
Clin Neurol
, vol.50
, pp. 156-162
-
-
Yomono, H.S.1
Kurisaki, H.2
Hebisawa, A.3
Sakiyama, Y.4
Saito, Y.5
Murayama, S.6
-
7
-
-
35348914402
-
Importance of low-range CAG expansion and CAA interruption in SCA2 parkinsonism
-
Kim JM, Hong S, Kim GP etal. Importance of low-range CAG expansion and CAA interruption in SCA2 parkinsonism. Arch Neurol 2007; 64: 1510-1518.
-
(2007)
Arch Neurol
, vol.64
, pp. 1510-1518
-
-
Kim, J.M.1
Hong, S.2
Kim, G.P.3
-
8
-
-
0032516918
-
Phenotype variation correlates with CAG repeat length in SCA2 - A study of 28 Japanese patients
-
Sasaki H, Wakisaka A, Sanpei K etal. Phenotype variation correlates with CAG repeat length in SCA2 - A study of 28 Japanese patients. J Neurol Sci 1998; 159: 202-208.
-
(1998)
J Neurol Sci
, vol.159
, pp. 202-208
-
-
Sasaki, H.1
Wakisaka, A.2
Sanpei, K.3
-
9
-
-
0024422743
-
Dominantly inherited olivo-ponto-cerebellar atrophy from eastern Cuba; clinical, neuropathological, and biochemical findings
-
Orozco G, Estrada R, Perry TL etal. Dominantly inherited olivo-ponto-cerebellar atrophy from eastern Cuba; clinical, neuropathological, and biochemical findings. J Neurol Sci 1989; 93: 37-50.
-
(1989)
J Neurol Sci
, vol.93
, pp. 37-50
-
-
Orozco, G.1
Estrada, R.2
Perry, T.L.3
-
10
-
-
0033111229
-
Autosomal dominant spinocerebellar degenerations: clinical, pathological, and genetic correlations
-
Iwabuchi K, Tsuchiya K, Uchihara T, Yagishita S. Autosomal dominant spinocerebellar degenerations: clinical, pathological, and genetic correlations. Rev Neurol (Paris) 1999; 155: 255-270.
-
(1999)
Rev Neurol (Paris)
, vol.155
, pp. 255-270
-
-
Iwabuchi, K.1
Tsuchiya, K.2
Uchihara, T.3
Yagishita, S.4
-
11
-
-
0033046989
-
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies
-
Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G. Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 1999; 97: 306-310.
-
(1999)
Acta Neuropathol
, vol.97
, pp. 306-310
-
-
Estrada, R.1
Galarraga, J.2
Orozco, G.3
Nodarse, A.4
Auburger, G.5
-
12
-
-
8044241783
-
A clinicopathological study on autosomal dominant hereditary olivo-ponto-cerebellar atrophy of which gene locus does not exist on chromosome 6p (Menzel's disease)
-
Iwabuchi K, Yagishita S, Andoh M etal. A clinicopathological study on autosomal dominant hereditary olivo-ponto-cerebellar atrophy of which gene locus does not exist on chromosome 6p (Menzel's disease). Adv Neurol Sci (Shinkei Kenkyu Shinpo) 1993; 37: 307-323.
-
(1993)
Adv Neurol Sci (Shinkei Kenkyu Shinpo)
, vol.37
, pp. 307-323
-
-
Iwabuchi, K.1
Yagishita, S.2
Andoh, M.3
-
13
-
-
0036185711
-
Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases
-
Pang JT, Giunti P, Chamberlain S etal. Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain 2002; 125: 656-663.
-
(2002)
Brain
, vol.125
, pp. 656-663
-
-
Pang, J.T.1
Giunti, P.2
Chamberlain, S.3
-
14
-
-
0242336434
-
Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance
-
Rüb U, Turco DD, Tredici KD etal. Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance. Brain 2003; 126: 2257-2272.
-
(2003)
Brain
, vol.126
, pp. 2257-2272
-
-
Rüb, U.1
Turco, D.D.2
Tredici, K.D.3
-
15
-
-
36949022900
-
CAG repeat disorder models and human neuropathology: similarities and differences
-
Yamada M, Sato T, Tsuji S, Takahashi H. CAG repeat disorder models and human neuropathology: similarities and differences. Acta Neuropathol 2008; 115: 71-86.
-
(2008)
Acta Neuropathol
, vol.115
, pp. 71-86
-
-
Yamada, M.1
Sato, T.2
Tsuji, S.3
Takahashi, H.4
-
16
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S etal. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-226.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
-
17
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M etal. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994; 8: 221-228.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
18
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
Zhuchenko O, Bailey J, Bonnen P etal. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
-
19
-
-
0030679611
-
Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
-
Matsumura R, Futamura N, Fujimoto Y etal. Spinocerebellar ataxia type 6: molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology 1997; 49: 1238-1243.
-
(1997)
Neurology
, vol.49
, pp. 1238-1243
-
-
Matsumura, R.1
Futamura, N.2
Fujimoto, Y.3
-
20
-
-
0025863618
-
Neuropathological stageing of Alzheimer-related changes
-
Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 1991; 82: 239-259.
-
(1991)
Acta Neuropathol
, vol.82
, pp. 239-259
-
-
Braak, H.1
Braak, E.2
-
21
-
-
0025908356
-
The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
-
Mirra SS, Heyman A, McKeel D etal. The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991; 41: 479-486.
-
(1991)
Neurology
, vol.41
, pp. 479-486
-
-
Mirra, S.S.1
Heyman, A.2
McKeel, D.3
-
22
-
-
22144453212
-
Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2)
-
Gierga K, Bürk K, Bauer M etal. Involvement of the cranial nerves and their nuclei in spinocerebellar ataxia type 2 (SCA2). Acta Neuropathol 2005; 109: 617-631.
-
(2005)
Acta Neuropathol
, vol.109
, pp. 617-631
-
-
Gierga, K.1
Bürk, K.2
Bauer, M.3
-
23
-
-
0032840052
-
Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple labeling immunofluorescent study
-
Kayano S, Uchihara Y, Fujigasaki H, Nakamura A, Yagishita S, Iwabuchi K. Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple labeling immunofluorescent study. Neurosci Lett 1999; 273: 117-120.
-
(1999)
Neurosci Lett
, vol.273
, pp. 117-120
-
-
Kayano, S.1
Uchihara, Y.2
Fujigasaki, H.3
Nakamura, A.4
Yagishita, S.5
Iwabuchi, K.6
-
24
-
-
0036786139
-
Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion
-
Kayano S, Iwabuchi K, Yagishita S, Kuroiwa Y, Uchihara T. Paradoxical absence of nuclear inclusion in cerebellar Purkinje cells of hereditary ataxias linked to CAG expansion. J Neurol Neurosurg Psychiatry 2002; 73: 450-452.
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.73
, pp. 450-452
-
-
Kayano, S.1
Iwabuchi, K.2
Yagishita, S.3
Kuroiwa, Y.4
Uchihara, T.5
-
25
-
-
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
-
26
-
-
26044439653
-
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNAIA calcium channel modifies age of onset
-
Pulst SM, Santos N, Wang D etal. Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNAIA calcium channel modifies age of onset. Brain 2005; 128: 2297-2303.
-
(2005)
Brain
, vol.128
, pp. 2297-2303
-
-
Pulst, S.M.1
Santos, N.2
Wang, D.3
-
27
-
-
0035112686
-
Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy
-
Yamada M, Wood JD, Shinohata T etal. Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy. Ann Neurol 2001; 49: 14-23.
-
(2001)
Ann Neurol
, vol.49
, pp. 14-23
-
-
Yamada, M.1
Wood, J.D.2
Shinohata, T.3
-
28
-
-
9444220784
-
Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG-repeat diseases
-
Yamada M, Tan CF, Inenaga C, Tsuji S, Takahashi H. Sharing of polyglutamine localization by the neuronal nucleus and cytoplasm in CAG-repeat diseases. Neuropathol Appl Neurobiol 2004; 30: 665-675.
-
(2004)
Neuropathol Appl Neurobiol
, vol.30
, pp. 665-675
-
-
Yamada, M.1
Tan, C.F.2
Inenaga, C.3
Tsuji, S.4
Takahashi, H.5
-
29
-
-
4644298126
-
Neuropathological diagnostic criteria for Alzheimer's disease
-
Murayama S, Saito Y. Neuropathological diagnostic criteria for Alzheimer's disease. Neuropathology 2004; 24: 254-260.
-
(2004)
Neuropathology
, vol.24
, pp. 254-260
-
-
Murayama, S.1
Saito, Y.2
-
30
-
-
64749104730
-
Incidence and survival of dementia in a general population of Japanese elderly: the Hisayama study
-
Matsui Y, Tanizaki Y, Arima H etal. Incidence and survival of dementia in a general population of Japanese elderly: the Hisayama study. J Neurol Neurosurg Psychiatry 2009; 80: 366-370.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, pp. 366-370
-
-
Matsui, Y.1
Tanizaki, Y.2
Arima, H.3
|