-
1
-
-
77955636420
-
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
-
A Durr Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond Lancet Neurol 9 2010 885 894
-
(2010)
Lancet Neurol
, vol.9
, pp. 885-894
-
-
Durr, A1
-
2
-
-
80051549115
-
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
-
H Kobayashi K Abe T Matsuura Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement Am J Hum Genet 89 2011 121 130
-
(2011)
Am J Hum Genet
, vol.89
, pp. 121-130
-
-
Kobayashi, H1
Abe, K2
Matsuura, T3
-
3
-
-
79955964913
-
Comparisons of acoustic function in SCA31 and other forms of ataxias
-
Y Ikeda M Nagai T Kurata Comparisons of acoustic function in SCA31 and other forms of ataxias Neurol Res 33 2011 427 432
-
(2011)
Neurol Res
, vol.33
, pp. 427-432
-
-
Ikeda, Y1
Nagai, M2
Kurata, T3
-
4
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Y Ikeda M Shizuka M Watanabe K Okamoto M Shoji Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan Neurology 54 2000 950 955
-
(2000)
Neurology
, vol.54
, pp. 950-955
-
-
Ikeda, Y1
Shizuka, M2
Watanabe, M3
Okamoto, K4
Shoji, M5
-
5
-
-
34547661737
-
Evaluation of brain perfusion SPECT using an easy Z-score imaging system (eZIS) as an adjunct to early diagnosis of neurodegenerative diseases
-
M Waragai T Yamada H Matsuda Evaluation of brain perfusion SPECT using an easy Z-score imaging system (eZIS) as an adjunct to early diagnosis of neurodegenerative diseases J Neurol Sci 260 2007 57 64
-
(2007)
J Neurol Sci
, vol.260
, pp. 57-64
-
-
Waragai, M1
Yamada, T2
Matsuda, H3
-
6
-
-
67949115850
-
Spinocerebellar ataxia type 23: a genetic update
-
DS Verbeek Spinocerebellar ataxia type 23: a genetic update Cerebellum 8 2009 104 107
-
(2009)
Cerebellum
, vol.8
, pp. 104-107
-
-
Verbeek, DS1
-
7
-
-
8144221193
-
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
-
DS Verbeek BP van de Warrenburg P Wesseling PL Pearson HP Kremer RJ Sinke Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3 Brain 127 2004 2551 2557
-
(2004)
Brain
, vol.127
, pp. 2551-2557
-
-
Verbeek, DS1
van de Warrenburg, BP2
Wesseling, P3
Pearson, PL4
Kremer, HP5
Sinke, RJ6
-
8
-
-
78249278153
-
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23
-
G Bakalkin H Watanabe J Jezierska Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23 Am J Hum Genet 87 2010 593 603
-
(2010)
Am J Hum Genet
, vol.87
, pp. 593-603
-
-
Bakalkin, G1
Watanabe, H2
Jezierska, J3
-
9
-
-
78649890408
-
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
-
JL Wang X Yang K Xia TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing Brain 133 2010 3510 3518
-
(2010)
Brain
, vol.133
, pp. 3510-3518
-
-
Wang, JL1
Yang, X2
Xia, K3
-
10
-
-
34250162883
-
Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy
-
Y Ohta T Hayashi M Nagai Two cases of spinocerebellar ataxia accompanied by involvement of the skeletal motor neuron system and bulbar palsy Intern Med 46 2007 751 755
-
(2007)
Intern Med
, vol.46
, pp. 751-755
-
-
Ohta, Y1
Hayashi, T2
Nagai, M3
-
11
-
-
43049133705
-
Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS
-
Y Fujita Y Mizuno M Takatama K Okamoto Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS J Neurol Sci 269 2008 30 34
-
(2008)
J Neurol Sci
, vol.269
, pp. 30-34
-
-
Fujita, Y1
Mizuno, Y2
Takatama, M3
Okamoto, K4
-
12
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
AC Elden HJ Kim MP Hart Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS Nature 466 2010 1069 1075
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, AC1
Kim, HJ2
Hart, MP3
-
13
-
-
0029969662
-
Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease
-
M Watanabe K Abe M Aoki Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease J Neurol Sci 136 1996 101 107
-
(1996)
J Neurol Sci
, vol.136
, pp. 101-107
-
-
Watanabe, M1
Abe, K2
Aoki, M3
-
14
-
-
0029049256
-
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
-
T Kameya K Abe M Aoki Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan Neurology 45 1995 1587 1594
-
(1995)
Neurology
, vol.45
, pp. 1587-1594
-
-
Kameya, T1
Abe, K2
Aoki, M3
-
15
-
-
9244229051
-
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1
-
LG Goldfarb O Vasconcelos FA Platonov Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1 Ann Neurol 39 1996 500 506
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, LG1
Vasconcelos, O2
Platonov, FA3
-
16
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
AR La Spada EM Wilson DB Lubahn AE Harding KH Fischbeck Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Nature 352 1991 77 79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, AR1
Wilson, EM2
Lubahn, DB3
Harding, AE4
Fischbeck, KH5
-
17
-
-
44949250067
-
Natural history of spinal-bulbar muscular atrophy
-
N Chahin C Klein J Mandrekar E Sorenson Natural history of spinal-bulbar muscular atrophy Neurology 70 2008 1967 1971
-
(2008)
Neurology
, vol.70
, pp. 1967-1971
-
-
Chahin, N1
Klein, C2
Mandrekar, J3
Sorenson, E4
|