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Volumn 64, Issue 7, 2005, Pages 1113-1114

Spinocerebellar ataxia type 14: Opening a new door in dominant ataxia research?

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GROWTH FACTOR; POLYGLUTAMINE; PROTEIN KINASE; PROTEIN KINASE C GAMMA;

EID: 16844369843     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000160013.10806.53     Document Type: Editorial
Times cited : (3)

References (10)
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    • The clinical and genetic spectrum of spinocerebellar ataxia 14
    • Chen DH, Cimino PJ, Ranum L, et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 2005;64:1258-1260.
    • (2005) Neurology , vol.64 , pp. 1258-1260
    • Chen, D.H.1    Cimino, P.J.2    Ranum, L.3
  • 2
    • 11144356369 scopus 로고    scopus 로고
    • 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
  • 3
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-849.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 4
    • 0037219826 scopus 로고    scopus 로고
    • A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia
    • van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003;72:191-199.
    • (2003) Am J Hum Genet , vol.72 , pp. 191-199
    • Van Swieten, J.C.1    Brusse, E.2    De Graaf, B.M.3
  • 5
    • 0346734156 scopus 로고    scopus 로고
    • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
    • van de Warrenburg BP, Verbeek DS, Piersma SJ, et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61:1760-1765.
    • (2003) Neurology , vol.61 , pp. 1760-1765
    • Van De Warrenburg, B.P.1    Verbeek, D.S.2    Piersma, S.J.3
  • 6
    • 4043178555 scopus 로고    scopus 로고
    • Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    • Stevanin G, Hahn V, Lohmann E, et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61: 1242-1248.
    • (2004) Arch Neurol , vol.61 , pp. 1242-1248
    • Stevanin, G.1    Hahn, V.2    Lohmann, E.3
  • 7
    • 0034858068 scopus 로고    scopus 로고
    • Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice
    • Skinner PJ, Vierra-Green CA, Clark HB, Zoghbi HY, Orr HT. Altered trafficking of membrane proteins in Purkinje cells of SCA1 transgenic mice. Am J Pathol 2001;159:905-913.
    • (2001) Am J Pathol , vol.159 , pp. 905-913
    • Skinner, P.J.1    Vierra-Green, C.A.2    Clark, H.B.3    Zoghbi, H.Y.4    Orr, H.T.5
  • 8
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    • Protein kinase C: Its role in activity-dependent Purkinje cell dendritic development and plasticity
    • Metzger F, Kapfhammer JP. Protein kinase C: its role in activity-dependent Purkinje cell dendritic development and plasticity. Cerebellum 2003;2:206-214.
    • (2003) Cerebellum , vol.2 , pp. 206-214
    • Metzger, F.1    Kapfhammer, J.P.2
  • 9
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    • How protein kinase C activation protects nerve cells from oxidative stress-induced cell death
    • Maher P. How protein kinase C activation protects nerve cells from oxidative stress-induced cell death. J Neurosci 2001;21:2929-2938.
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    • Maher, P.1
  • 10
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    • Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting
    • Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 2005;128: 436-442.
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    • Verbeek, D.S.1    Knight, M.A.2    Harmison, G.G.3    Fischbeck, K.H.4    Howell, B.W.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.