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Journal Abstract Search

190 related items for PubMed ID: 28826917

  • 1. Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
    Das J, Lilleker J, Shereef H, Ealing J.
    Neurol Neurochir Pol; 2017; 51(6):497-500. PubMed ID: 28826917
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  • 7. A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
    McEntagart M, Williamson KA, Rainger JK, Wheeler A, Seawright A, De Baere E, Verdin H, Bergendahl LT, Quigley A, Rainger J, Dixit A, Sarkar A, López Laso E, Sanchez-Carpintero R, Barrio J, Bitoun P, Prescott T, Riise R, McKee S, Cook J, McKie L, Ceulemans B, Meire F, Temple IK, Prieur F, Williams J, Clouston P, Németh AH, Banka S, Bengani H, Handley M, Freyer E, Ross A, DDD StudyDDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., van Heyningen V, Marsh JA, Elmslie F, FitzPatrick DR.
    Am J Hum Genet; 2016 May 05; 98(5):981-992. PubMed ID: 27108798
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  • 11. Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.
    Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O.
    Neurology; 2008 Aug 19; 71(8):547-51. PubMed ID: 18579805
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  • 13. 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 19; 30(8):2539-2543. PubMed ID: 37154409
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  • 16. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.
    van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT.
    Am J Med Genet A; 2017 Jan 19; 173(1):207-212. PubMed ID: 27862915
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  • 18. 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 Jan 19; 12(11):e0187503. PubMed ID: 29186133
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