BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 17149711)

  • 21. 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; 57(3):349-54. PubMed ID: 15732118
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
    van de Warrenburg BP; Verbeek DS; Piersma SJ; Hennekam FA; Pearson PL; Knoers NV; Kremer HP; Sinke RJ
    Neurology; 2003 Dec; 61(12):1760-5. PubMed ID: 14694043
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
    Alonso I; Costa C; Gomes A; Ferro A; Seixas AI; Silva S; Cruz VT; Coutinho P; Sequeiros J; Silveira I
    J Hum Genet; 2005; 50(10):523-529. PubMed ID: 16189624
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
    Chen DH; Brkanac Z; Verlinde CL; Tan XJ; Bylenok L; Nochlin D; Matsushita M; Lipe H; Wolff J; Fernandez M; Cimino PJ; Bird TD; Raskind WH
    Am J Hum Genet; 2003 Apr; 72(4):839-49. PubMed ID: 12644968
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
    Cricchi F; Di Lorenzo C; Grieco GS; Rengo C; Cardinale A; Racaniello M; Santorelli FM; Nappi G; Pierelli F; Casali C
    J Neurol Sci; 2007 Mar; 254(1-2):69-71. PubMed ID: 17292920
    [TBL] [Abstract][Full Text] [Related]  

  • 28. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
    Wang JL; Yang X; Xia K; Hu ZM; Weng L; Jin X; Jiang H; Zhang P; Shen L; Guo JF; Li N; Li YR; Lei LF; Zhou J; Du J; Zhou YF; Pan Q; Wang J; Wang J; Li RQ; Tang BS
    Brain; 2010 Dec; 133(Pt 12):3510-8. PubMed ID: 21106500
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
    Spacey SD; Materek LA; Szczygielski BI; Bird TD
    Arch Neurol; 2005 Feb; 62(2):314-6. PubMed ID: 15710862
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
    Verbeek DS; Warrenburg BP; Hennekam FA; Dooijes D; Ippel PF; Verschuuren-Bemelmans CC; Kremer HP; Sinke RJ
    Hum Genet; 2005 Jun; 117(1):88-91. PubMed ID: 15841389
    [TBL] [Abstract][Full Text] [Related]  

  • 31. [Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].
    Yin J; Wang H; Wang X
    Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):481-3. PubMed ID: 11758231
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
    Chelban V; Wiethoff S; Fabian-Jessing BK; Haridy NA; Khan A; Efthymiou S; Becker EBE; O'Connor E; Hersheson J; Newland K; Hojland AT; Gregersen PA; Lindquist SG; Petersen MB; Nielsen JE; Nielsen M; Wood NW; Giunti P; Houlden H
    Mov Disord; 2018 Jul; 33(7):1119-1129. PubMed ID: 29603387
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Spinocerebellar ataxia type 14.
    Chen DH; Raskind WH; Bird TD
    Handb Clin Neurol; 2012; 103():555-9. PubMed ID: 21827914
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
    Schmitz-Hübsch T; Lux S; Bauer P; Brandt AU; Schlapakow E; Greschus S; Scheel M; Gärtner H; Kirlangic ME; Gras V; Timmann D; Synofzik M; Giorgetti A; Carloni P; Shah JN; Schöls L; Kopp U; Bußenius L; Oberwahrenbrock T; Zimmermann H; Pfueller C; Kadas EM; Rönnefarth M; Grosch AS; Endres M; Amunts K; Paul F; Doss S; Minnerop M
    Ann Clin Transl Neurol; 2021 Apr; 8(4):774-789. PubMed ID: 33739604
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Familial essential tremor is not associated with SCA-12 mutation in southern Italy.
    Nicoletti G; Annesi G; Carrideo S; Tomaino C; Di Costanzo A; Zappia M; Quattrone A
    Mov Disord; 2002 Jul; 17(4):837-8. PubMed ID: 12210890
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia.
    Tanaka E; Maruyama H; Morino H; Nakajima E; Kawakami H
    J Neurol Sci; 2008 Mar; 266(1-2):180-1. PubMed ID: 17915252
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Spinocerebellar ataxia type 15.
    Storey E; Gardner RJ
    Handb Clin Neurol; 2012; 103():561-5. PubMed ID: 21827915
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.
    Mariotti C; Brusco A; Di Bella D; Cagnoli C; Seri M; Gellera C; Di Donato S; Taroni F
    Cerebellum; 2008; 7(2):184-8. PubMed ID: 18769991
    [TBL] [Abstract][Full Text] [Related]  

  • 39. [Autosomal dominant spinocerebellar ataxia].
    Milewska D; Hoffman-Zacharska D; Zaremba J
    Neurol Neurochir Pol; 1999; 33(3):633-43. PubMed ID: 10540724
    [TBL] [Abstract][Full Text] [Related]  

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

    [Previous]   [Next]    [New Search]
    of 8.