BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 17149711)

  • 1. 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; 22(2):265-7. PubMed ID: 17149711
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 22(14):2135-6. PubMed ID: 17708558
    [No Abstract]   [Full Text] [Related]  

  • 7. Codon 101 of PRKCG, a preferential mutation site in SCA14.
    Nolte D; Klebe S; Baron R; Deuschl G; Müller U
    Mov Disord; 2007 Sep; 22(12):1831-2. PubMed ID: 17659643
    [No Abstract]   [Full Text] [Related]  

  • 8. 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; 21(7):1025-8. PubMed ID: 16547918
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 64(7):1258-60. PubMed ID: 15824357
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
    Fahey MC; Knight MA; Shaw JH; Gardner RJ; du Sart D; Lockhart PJ; Delatycki MB; Gates PC; Storey E
    J Neurol Neurosurg Psychiatry; 2005 Dec; 76(12):1720-2. PubMed ID: 16291902
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 111(2):211-5. PubMed ID: 18986758
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
    Klebe S; Faivre L; Forlani S; Dussert C; Tourbah A; Brice A; Stevanin G; Durr A
    Arch Neurol; 2007 Jun; 64(6):913-4. PubMed ID: 17562946
    [No Abstract]   [Full Text] [Related]  

  • 13. Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research?
    Pandolfo M; van de Warrenburg BP
    Neurology; 2005 Apr; 64(7):1113-4. PubMed ID: 15824330
    [No Abstract]   [Full Text] [Related]  

  • 14. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
    Hara K; Shiga A; Nozaki H; Mitsui J; Takahashi Y; Ishiguro H; Yomono H; Kurisaki H; Goto J; Ikeuchi T; Tsuji S; Nishizawa M; Onodera O
    Neurology; 2008 Aug; 71(8):547-51. PubMed ID: 18579805
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 125(2):116-22. PubMed ID: 21434874
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype.
    Visser JE; Bloem BR; van de Warrenburg BP
    Mov Disord; 2007 May; 22(7):1024-6. PubMed ID: 17343273
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 241(1-2):13-7. PubMed ID: 16325861
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 18(19):3533-43. PubMed ID: 19561170
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Large CACNA1A deletion in a family with episodic ataxia type 2.
    Riant F; Mourtada R; Saugier-Veber P; Tournier-Lasserve E
    Arch Neurol; 2008 Jun; 65(6):817-20. PubMed ID: 18541804
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A Japanese case of SCA14 with the Gly128Asp mutation.
    Morita H; Yoshida K; Suzuki K; Ikeda SI
    J Hum Genet; 2006; 51(12):1118-1121. PubMed ID: 17024314
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.