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Journal Abstract Search

155 related items for PubMed ID: 12828938

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  • 3. 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
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  • 5. SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
    Marelli C, van de Leemput J, Johnson JO, Tison F, Thauvin-Robinet C, Picard F, Tranchant C, Hernandez DG, Huttin B, Boulliat J, Sangla I, Marescaux C, Brique S, Dollfus H, Arepalli S, Benatru I, Ollagnon E, Forlani S, Hardy J, Stevanin G, Dürr A, Singleton A, Brice A.
    Arch Neurol; 2011 May 28; 68(5):637-43. PubMed ID: 21555639
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  • 6. Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.
    García-Planells J, Cuesta A, Vilchez JJ, Martínez F, Prieto F, Palau F.
    J Med Genet; 1999 Feb 28; 36(2):148-51. PubMed ID: 10051016
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  • 7. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
    van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB.
    PLoS Genet; 2007 Jun 28; 3(6):e108. PubMed ID: 17590087
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  • 10. Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1.
    Forman OP, De Risio L, Matiasek K, Platt S, Mellersh C.
    Mamm Genome; 2015 Feb 28; 26(1-2):108-17. PubMed ID: 25354648
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  • 11. A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter.
    Higgins JJ, Rosen DR, Loveless JM, Clyman JC, Grau MJ.
    Neurology; 2000 Aug 08; 55(3):335-40. PubMed ID: 10932263
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  • 12. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.
    Hsiao CT, Liu YT, Liao YC, Hsu TY, Lee YC, Soong BW.
    PLoS One; 2017 Aug 08; 12(11):e0187503. PubMed ID: 29186133
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  • 16. Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.
    Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P.
    J Med Genet; 2011 Jun 08; 48(6):407-12. PubMed ID: 21367767
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  • 19. Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
    Iwaki A, Kawano Y, Miura S, Shibata H, Matsuse D, Li W, Furuya H, Ohyagi Y, Taniwaki T, Kira J, Fukumaki Y.
    J Med Genet; 2008 Jan 08; 45(1):32-5. PubMed ID: 17932120
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