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Journal Abstract Search

162 related items for PubMed ID: 20437544

  • 1. Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
    van de Leemput J, Wavrant-De Vrièze F, Rafferty I, Bras JM, Giunti P, Fisher EM, Hardy JA, Singleton AB, Houlden H.
    Mov Disord; 2010 Apr 30; 25(6):771-3. PubMed ID: 20437544
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  • 6. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
    Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM.
    Orphanet J Rare Dis; 2012 Sep 17; 7():67. PubMed ID: 22986007
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  • 7. Prevalence of inositol 1, 4, 5-triphosphate receptor type 1 gene deletion, the mutation for spinocerebellar ataxia type 15, in Japan screened by gene dosage.
    Obayashi M, Ishikawa K, Izumi Y, Takahashi M, Niimi Y, Sato N, Onodera O, Kaji R, Nishizawa M, Mizusawa H.
    J Hum Genet; 2012 Mar 17; 57(3):202-6. PubMed ID: 22318346
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  • 9. An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description.
    Novak MJ, Sweeney MG, Li A, Treacy C, Chandrashekar HS, Giunti P, Goold RG, Davis MB, Houlden H, Tabrizi SJ.
    Mov Disord; 2010 Oct 15; 25(13):2176-82. PubMed ID: 20669319
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  • 10. Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
    Gazulla J, Bellosta-Diago E, Izquierdo-Alvarez S, Berciano J.
    Eur J Neurol; 2023 Aug 15; 30(8):2539-2543. PubMed ID: 37154409
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  • 11. 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 15; 45(1):32-5. PubMed ID: 17932120
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  • 12. Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
    Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N.
    J Neurol; 2015 May 15; 262(5):1278-84. PubMed ID: 25794864
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  • 13. 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 15; 48(6):407-12. PubMed ID: 21367767
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