BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 17562946)

  • 1. 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]  

  • 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. 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]  

  • 4. 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; 128(Pt 2):436-42. PubMed ID: 15618281
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

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

  • 10. 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]  

  • 11. 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]  

  • 12. [Friedreich ataxia--diagnosis after a decade. Differential diagnosis of inherited spinocerebellar ataxias].
    Vitaszil E; Jelencsik I; Szirmai I
    Ideggyogy Sz; 2002 Nov; 55(11-12):382-93. PubMed ID: 12632799
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 121(Pt 14):2339-49. PubMed ID: 18577575
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5.
    Lorenzo DN; Forrest SM; Ikeda Y; Dick KA; Ranum LP; Knight MA
    Neurology; 2006 Dec; 67(11):2084-5. PubMed ID: 17159129
    [No Abstract]   [Full Text] [Related]  

  • 16. SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.
    Jezierska J; Goedhart J; Kampinga HH; Reits EA; Verbeek DS
    J Neurochem; 2014 Mar; 128(5):741-51. PubMed ID: 24134140
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Re: clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes.
    Friedman J
    Mov Disord; 2007 Apr; 22(5):753; author reply 753-4. PubMed ID: 17115400
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.
    Breedveld GJ; van Wetten B; te Raa GD; Brusse E; van Swieten JC; Oostra BA; Maat-Kievit JA
    J Med Genet; 2004 Nov; 41(11):858-66. PubMed ID: 15520412
    [No Abstract]   [Full Text] [Related]  

  • 20. Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells.
    Seki T; Shimahara T; Yamamoto K; Abe N; Amano T; Adachi N; Takahashi H; Kashiwagi K; Saito N; Sakai N
    Neurobiol Dis; 2009 Feb; 33(2):260-73. PubMed ID: 19041943
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.