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Journal Abstract Search

172 related items for PubMed ID: 10072060

  • 41. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
    Stevanin G, Bouslam N, Thobois S, Azzedine H, Ravaux L, Boland A, Schalling M, Broussolle E, Dürr A, Brice A.
    Ann Neurol; 2004 Jan; 55(1):97-104. PubMed ID: 14705117
    [Abstract] [Full Text] [Related]

  • 42. Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred.
    Ranum LP, Rich SS, Nance MA, Duvick LA, Aita JF, Orr HT, Anton-Johnson S, Schut LJ.
    Neurology; 1992 Feb; 42(2):344-7. PubMed ID: 1736163
    [Abstract] [Full Text] [Related]

  • 43. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.
    David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, Gemmill R, Weissenbach J, Wood N, Cunha S, Drabkin H, Harding AE, Agid Y, Brice A.
    Am J Hum Genet; 1996 Dec; 59(6):1328-36. PubMed ID: 8940279
    [Abstract] [Full Text] [Related]

  • 44. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth.
    Giunti P, Sweeney MG, Harding AE.
    Brain; 1995 Oct; 118 ( Pt 5)():1077-85. PubMed ID: 7496771
    [Abstract] [Full Text] [Related]

  • 45. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
    Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T.
    Nat Genet; 2000 Oct; 26(2):191-4. PubMed ID: 11017075
    [Abstract] [Full Text] [Related]

  • 46. Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.
    Shrimpton AE, Davidson R, MacDonald N, Brock DJ.
    J Med Genet; 1993 Jul; 30(7):616-7. PubMed ID: 8411042
    [Abstract] [Full Text] [Related]

  • 47. Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
    Pujana MA, Corral J, Gratacòs M, Combarros O, Berciano J, Genís D, Banchs I, Estivill X, Volpini V.
    Hum Genet; 1999 Jun; 104(6):516-22. PubMed ID: 10453742
    [Abstract] [Full Text] [Related]

  • 48. The gene for Machado-Joseph disease maps to human chromosome 14q.
    Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S.
    Nat Genet; 1993 Jul; 4(3):300-4. PubMed ID: 8358439
    [Abstract] [Full Text] [Related]

  • 49. Clinical and molecular features of spinocerebellar ataxia type 6.
    Stevanin G, Dürr A, David G, Didierjean O, Cancel G, Rivaud S, Tourbah A, Warter JM, Agid Y, Brice A.
    Neurology; 1997 Nov; 49(5):1243-6. PubMed ID: 9371901
    [Abstract] [Full Text] [Related]

  • 50. [Siblings with spinocerebellar ataxia type 1 (SCA 1)--diagnosis by detecting the expansion of CAG repeat on chromosome 6p].
    Hanihara T, Takahashi T, Inoue K, Yamada Y, Iwabuchi K.
    Rinsho Shinkeigaku; 1994 May; 34(5):508-10. PubMed ID: 7924069
    [Abstract] [Full Text] [Related]

  • 51. Spinocerebellar ataxia type 1 in Russia.
    Illarioshkin SN, Slominsky PA, Ovchinnikov IV, Markova ED, Miklina NI, Klyushnikov SA, Shadrina M, Vereshchagin NV, Limborskaya SA, Ivanova-Smolenskaya IA.
    J Neurol; 1996 Jul; 243(7):506-10. PubMed ID: 8836939
    [Abstract] [Full Text] [Related]

  • 52. Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.
    Keats BJ, Pollack MS, McCall A, Wilensky MA, Ward LJ, Lu M, Zoghbi HY.
    Am J Hum Genet; 1991 Nov; 49(5):972-7. PubMed ID: 1928103
    [Abstract] [Full Text] [Related]

  • 53. An autosomal dominant ataxia maps to 19q13: Allelic heterogeneity of SCA13 or novel locus?
    Waters MF, Fee D, Figueroa KP, Nolte D, Müller U, Advincula J, Coon H, Evidente VG, Pulst SM.
    Neurology; 2005 Oct 11; 65(7):1111-3. PubMed ID: 16135769
    [Abstract] [Full Text] [Related]

  • 54. Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1.
    Hernández A, Magariño C, Gispert S, Santos N, Lunkes A, Orozco G, Heredero L, Beckmann J, Auburger G.
    Genomics; 1995 Jan 20; 25(2):433-5. PubMed ID: 7789976
    [Abstract] [Full Text] [Related]

  • 55.
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  • 56. SCA2 is not a major locus for ADCA type I in French families.
    Cancel G, Stevanin G, Dürr A, Chneiweiss H, Penet C, Pothin Y, Agid Y, Brice A.
    Am J Med Genet; 1995 Oct 09; 60(5):382-5. PubMed ID: 8546150
    [Abstract] [Full Text] [Related]

  • 57. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
    Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M.
    Eur J Hum Genet; 2003 Oct 09; 11(10):770-8. PubMed ID: 14512967
    [Abstract] [Full Text] [Related]

  • 58. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
    Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY.
    Nat Genet; 1993 Jul 09; 4(3):221-6. PubMed ID: 8358429
    [Abstract] [Full Text] [Related]

  • 59. Identification of a novel mutation in the CACNA1C gene in a Chinese family with autosomal dominant cerebellar ataxia.
    Chen J, Sun Y, Liu X, Li J.
    BMC Neurol; 2019 Jul 10; 19(1):157. PubMed ID: 31291898
    [Abstract] [Full Text] [Related]

  • 60. Regional mapping of the gene for autosomal dominant spinocerebellar ataxia (SCA1) by localizing the closely linked D6S89 locus to 6p24.2----p23.05.
    Volz A, Fonatsch C, Ziegler A.
    Cytogenet Cell Genet; 1992 Jul 10; 60(1):37-9. PubMed ID: 1582256
    [Abstract] [Full Text] [Related]

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