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655 related items for PubMed ID: 15313841

  • 1. 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, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A.
    Arch Neurol; 2004 Aug; 61(8):1242-8. PubMed ID: 15313841
    [Abstract] [Full Text] [Related]

  • 2. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
    Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G.
    Ann Neurol; 2005 Nov; 58(5):720-9. PubMed ID: 16193476
    [Abstract] [Full Text] [Related]

  • 3. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.
    Hiramoto K, Kawakami H, Inoue K, Seki T, Maruyama H, Morino H, Matsumoto M, Kurisu K, Sakai N.
    Mov Disord; 2006 Sep; 21(9):1355-60. PubMed ID: 16763984
    [Abstract] [Full Text] [Related]

  • 4. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
    Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K.
    Arch Neurol; 2003 Dec; 60(12):1749-51. PubMed ID: 14676051
    [Abstract] [Full Text] [Related]

  • 5. The clinical and genetic spectrum of spinocerebellar ataxia 14.
    Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD.
    Neurology; 2005 Apr 12; 64(7):1258-60. PubMed ID: 15824357
    [Abstract] [Full Text] [Related]

  • 6. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.
    Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, van de Warrenburg BP.
    Mov Disord; 2006 Jul 12; 21(7):1025-8. PubMed ID: 16547918
    [Abstract] [Full Text] [Related]

  • 7. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
    Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM.
    Acta Neurol Scand; 2012 Feb 12; 125(2):116-22. PubMed ID: 21434874
    [Abstract] [Full Text] [Related]

  • 8. Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
    Asai H, Hirano M, Shimada K, Kiriyama T, Furiya Y, Ikeda M, Iwamoto T, Mori T, Nishinaka K, Konishi N, Udaka F, Ueno S.
    Hum Mol Genet; 2009 Oct 01; 18(19):3533-43. PubMed ID: 19561170
    [Abstract] [Full Text] [Related]

  • 9. Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.
    Miura S, Nakagawara H, Kaida H, Sugita M, Noda K, Motomura K, Ohyagi Y, Ayabe M, Aizawa H, Ishibashi M, Taniwaki T.
    Clin Neurol Neurosurg; 2009 Feb 01; 111(2):211-5. PubMed ID: 18986758
    [Abstract] [Full Text] [Related]

  • 10. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
    Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.
    Ann Neurol; 2004 Jan 01; 55(1):97-104. PubMed ID: 14705117
    [Abstract] [Full Text] [Related]

  • 11. Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.
    Nolte D, Landendinger M, Schmitt E, Müller U.
    Mov Disord; 2007 Jan 15; 22(2):265-7. PubMed ID: 17149711
    [Abstract] [Full Text] [Related]

  • 12. Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
    Wieczorek S, Arning L, Gizewski ER, Alheite I, Timmann D.
    Mov Disord; 2007 Oct 31; 22(14):2135-6. PubMed ID: 17708558
    [No Abstract] [Full Text] [Related]

  • 13. Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
    Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ.
    Brain; 2004 Nov 31; 127(Pt 11):2551-7. PubMed ID: 15306549
    [Abstract] [Full Text] [Related]

  • 14. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
    Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM.
    Ann Neurol; 2005 Mar 31; 57(3):349-54. PubMed ID: 15732118
    [Abstract] [Full Text] [Related]

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 31; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 16. Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
    Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P.
    Arch Neurol; 2003 Apr 31; 60(4):610-4. PubMed ID: 12707077
    [Abstract] [Full Text] [Related]

  • 17. PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.
    Verbeek DS, Goedhart J, Bruinsma L, Sinke RJ, Reits EA.
    J Cell Sci; 2008 Jul 15; 121(Pt 14):2339-49. PubMed ID: 18577575
    [Abstract] [Full Text] [Related]

  • 18. 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.
    Brain; 2005 Feb 15; 128(Pt 2):436-42. PubMed ID: 15618281
    [Abstract] [Full Text] [Related]

  • 19. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
    Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT.
    J Neurol Sci; 2006 Feb 15; 241(1-2):13-7. PubMed ID: 16325861
    [Abstract] [Full Text] [Related]

  • 20. An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
    Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SM.
    Neurology; 2005 Oct 11; 65(7):1111-3. PubMed ID: 16135769
    [Abstract] [Full Text] [Related]

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