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Journal Abstract Search

172 related items for PubMed ID: 10072060

  • 21.
    ; . PubMed ID:
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  • 22. The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci.
    Jodice C, Frontali M, Persichetti F, Novelletto A, Pandolfo M, Spadaro M, Giunti P, Schinaia G, Lulli P, Malaspina P.
    Hum Mol Genet; 1993 Sep; 2(9):1383-7. PubMed ID: 8242061
    [Abstract] [Full Text] [Related]

  • 23. Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
    Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ.
    Hum Genet; 2002 Oct; 111(4-5):388-93. PubMed ID: 12384780
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  • 24.
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  • 25.
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  • 26. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
    Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C.
    Am J Hum Genet; 1994 Jan; 54(1):11-20. PubMed ID: 8279460
    [Abstract] [Full Text] [Related]

  • 27. Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus.
    Twist EC, Farrer LA, Macleod PM, Radvany J, Chamberlain S, Rosenberg RN, Rouleau GA.
    Hum Genet; 1994 Mar; 93(3):335-8. PubMed ID: 8125487
    [Abstract] [Full Text] [Related]

  • 28. Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region.
    Hellenbroich Y, Bubel S, Pawlack H, Opitz S, Vieregge P, Schwinger E, Zühlke C.
    J Neurol; 2003 Jun; 250(6):668-71. PubMed ID: 12796826
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  • 29. Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).
    Sasaki H, Kojima H, Yabe I, Tashiro K, Hamada T, Sawa H, Hiraga H, Nagashima K.
    Acta Neuropathol; 1998 Feb; 95(2):199-204. PubMed ID: 9498057
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  • 30. Familial periodic cerebellar ataxia without myokymia maps to a 19-cM region on 19p13.
    Teh BT, Silburn P, Lindblad K, Betz R, Boyle R, Schalling M, Larsson C.
    Am J Hum Genet; 1995 Jun; 56(6):1443-9. PubMed ID: 7762567
    [Abstract] [Full Text] [Related]

  • 31. [Spinocerebellar ataxia: advances in genetic research and its clinical implication].
    Sasaki H.
    Hokkaido Igaku Zasshi; 1997 Jan; 72(1):13-20. PubMed ID: 9086358
    [Abstract] [Full Text] [Related]

  • 32. Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.
    Nagai Y, Azuma T, Funauchi M, Fujita M, Umi M, Hirano M, Matsubara T, Ueno S.
    J Neurol Sci; 1998 Apr 15; 157(1):52-9. PubMed ID: 9600677
    [Abstract] [Full Text] [Related]

  • 33. Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype.
    Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY.
    Neurology; 1998 Oct 15; 51(4):1081-6. PubMed ID: 9781533
    [Abstract] [Full Text] [Related]

  • 34. The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.
    Stevanin G, Cancel G, Dürr A, Chneiweiss H, Dubourg O, Weissenbach J, Cann HM, Agid Y, Brice A.
    Am J Hum Genet; 1995 Jan 15; 56(1):193-201. PubMed ID: 7825578
    [Abstract] [Full Text] [Related]

  • 35. Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus.
    Dudding TE, Friend K, Schofield PW, Lee S, Wilkinson IA, Richards RI.
    Neurology; 2004 Dec 28; 63(12):2288-92. PubMed ID: 15623688
    [Abstract] [Full Text] [Related]

  • 36. 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 28; 126(2):310-2. PubMed ID: 7925830
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  • 37.
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  • 38. The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.
    Lorenzetti D, Bohlega S, Zoghbi HY.
    Neurology; 1997 Oct 28; 49(4):1009-13. PubMed ID: 9339681
    [Abstract] [Full Text] [Related]

  • 39. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
    Corral-Juan M, Serrano-Munuera C, Rábano A, Cota-González D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Méndez-Del-Barrio C, Jesús S, Mir P, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A.
    Brain; 2018 Jul 01; 141(7):1981-1997. PubMed ID: 29939198
    [Abstract] [Full Text] [Related]

  • 40. Endothelin 1 is not a candidate gene for spinal cerebellar ataxia 1.
    Cancel G, Khati C, Stevanin G, Pages JC, Agid Y, Brice A, Cann HM.
    Hum Mol Genet; 1993 Sep 01; 2(9):1477-9. PubMed ID: 8242075
    [No Abstract] [Full Text] [Related]

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