메뉴 건너뛰기




Volumn 79, Issue 4, 2012, Pages 333-341

Clinical features of sca36: A novel spinocerebellar ataxia with motor neuron involvement (asidan)

Author keywords

[No Author keywords available]

Indexed keywords

NOP56 PROTEIN, HUMAN; NUCLEAR PROTEIN;

EID: 84865332523     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e318260436f     Document Type: Article
Times cited : (78)

References (17)
  • 1
    • 77955636420 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.