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Journal Abstract Search

279 related items for PubMed ID: 12384780

  • 21. 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]

  • 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 23; 61(12):1760-5. PubMed ID: 14694043
    [Abstract] [Full Text] [Related]

  • 23. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.
    Vahedi K, Joutel A, Van Bogaert P, Ducros A, Maciazeck J, Bach JF, Bousser MG, Tournier-Lasserve E.
    Ann Neurol; 1995 Mar 23; 37(3):289-93. PubMed ID: 7695228
    [Abstract] [Full Text] [Related]

  • 24. Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus.
    Lunkes A, Goldfarb LG, Platonov FA, Alexeev VP, Duenas-Barajas E, Gajdusek DC, Auburger G.
    Exp Neurol; 1994 Apr 23; 126(2):310-2. PubMed ID: 7925830
    [Abstract] [Full Text] [Related]

  • 25. 16q-linked autosomal dominant cerebellar ataxia: a clinical and genetic study.
    Ouyang Y, Sakoe K, Shimazaki H, Namekawa M, Ogawa T, Ando Y, Kawakami T, Kaneko J, Hasegawa Y, Yoshizawa K, Amino T, Ishikawa K, Mizusawa H, Nakano I, Takiyama Y.
    J Neurol Sci; 2006 Sep 25; 247(2):180-6. PubMed ID: 16780885
    [Abstract] [Full Text] [Related]

  • 26. Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.
    Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H.
    Arch Neurol; 2010 Oct 25; 67(10):1257-62. PubMed ID: 20937954
    [Abstract] [Full Text] [Related]

  • 27.
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  • 28. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.
    Nagaoka U, Takashima M, Ishikawa K, Yoshizawa K, Yoshizawa T, Ishikawa M, Yamawaki T, Shoji S, Mizusawa H.
    Neurology; 2000 May 23; 54(10):1971-5. PubMed ID: 10822439
    [Abstract] [Full Text] [Related]

  • 29. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
    Michielse CB, Bhat M, Brady A, Jafrid H, van den Hurk JA, Raashid Y, Brunner HG, van Bokhoven H, Padberg GW.
    Eur J Hum Genet; 2006 Dec 23; 14(12):1306-12. PubMed ID: 16912702
    [Abstract] [Full Text] [Related]

  • 30. Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
    Jen JC, Lee H, Cha YH, Nelson SF, Baloh RW.
    Neurology; 2006 Nov 14; 67(9):1704-6. PubMed ID: 17101914
    [Abstract] [Full Text] [Related]

  • 31. A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
    Xia J, Deng H, Feng Y, Zhang H, Pan Q, Dai H, Long Z, Tang B, Deng H, Chen Y, Zhang R, Zheng D, He Y, Xia K.
    J Hum Genet; 2002 Nov 14; 47(12):635-40. PubMed ID: 12522684
    [Abstract] [Full Text] [Related]

  • 32. Linkage studies in spinocerebellar ataxia (SCA).
    Morton NE, Lalouel JM, Jackson JF, Currier RD, Yee S.
    Am J Med Genet; 1980 Nov 14; 6(3):251-7. PubMed ID: 7424977
    [Abstract] [Full Text] [Related]

  • 33. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
    Winkelmann J, Lichtner P, Pütz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B.
    Mov Disord; 2006 Jan 14; 21(1):28-33. PubMed ID: 16124010
    [Abstract] [Full Text] [Related]

  • 34. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.
    Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, Chen W, Eleftheriades N, Grigoriadou M, Pauw RJ, Cremers CR, Smith RJ, Petersen MB, Van Camp G.
    Eur J Hum Genet; 2007 Mar 14; 15(3):362-8. PubMed ID: 17213839
    [Abstract] [Full Text] [Related]

  • 35. A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1.
    Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y.
    Mol Vis; 2007 Aug 01; 13():1357-62. PubMed ID: 17768382
    [Abstract] [Full Text] [Related]

  • 36. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
    Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF.
    Mol Vis; 2004 Jan 15; 10():37-42. PubMed ID: 14737064
    [Abstract] [Full Text] [Related]

  • 37. Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese.
    Onodera Y, Aoki M, Mizuno H, Warita H, Shiga Y, Itoyama Y.
    Neurology; 2006 Oct 10; 67(7):1300-2. PubMed ID: 17030774
    [Abstract] [Full Text] [Related]

  • 38. Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.
    Hedera P, Blair MA, Andermann E, Andermann F, D'Agostino D, Taylor KA, Chahine L, Pandolfo M, Bradford Y, Haines JL, Abou-Khalil B.
    Neurology; 2007 Jun 12; 68(24):2107-12. PubMed ID: 17377072
    [Abstract] [Full Text] [Related]

  • 39. A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.
    Pang CP, Fan BJ, Canlas O, Wang DY, Dubois S, Tam PO, Lam DS, Raymond V, Ritch R.
    Mol Vis; 2006 Feb 14; 12():85-92. PubMed ID: 16518310
    [Abstract] [Full Text] [Related]

  • 40. Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.
    Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nürnberg P, Heuser A, Jenni R, Hennies HC, Thierfelder L.
    Circulation; 2004 Jun 08; 109(22):2720-3. PubMed ID: 15173023
    [Abstract] [Full Text] [Related]

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