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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

238 related items for PubMed ID: 21555639

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  • 8. 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; 57(3):202-6. PubMed ID: 22318346
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  • 9. 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; 45(1):32-5. PubMed ID: 17932120
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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; 30(8):2539-2543. PubMed ID: 37154409
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  • 11. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
    Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F.
    Int J Mol Sci; 2022 Jun 16; 23(12):. PubMed ID: 35743164
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  • 12. 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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  • 13. Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
    Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Care4Rare Canada Consortium, Dudding-Byth T, Boycott KM.
    Orphanet J Rare Dis; 2017 Jun 28; 12(1):121. PubMed ID: 28659154
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  • 14. 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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  • 15. Spinocerebellar ataxia type 15.
    Storey E, Gardner RJ.
    Handb Clin Neurol; 2012 Jun 28; 103():561-5. PubMed ID: 21827915
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  • 16. Spinocerebellar ataxia 15: A phenotypic review and expansion.
    Tipton PW, Guthrie K, Strongosky A, Reimer R, Wszolek ZK.
    Neurol Neurochir Pol; 2017 Jun 28; 51(1):86-91. PubMed ID: 27908616
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  • 17. A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline.
    Castrioto A, Prontera P, Di Gregorio E, Rossi V, Parnetti L, Rossi A, Donti E, Brusco A, Calabresi P, Tambasco N.
    Eur J Neurol; 2011 Oct 28; 18(10):1263-5. PubMed ID: 21382133
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  • 18. Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.
    Ganesamoorthy D, Bruno DL, Schoumans J, Storey E, Delatycki MB, Zhu D, Wei MK, Nicholson GA, McKinlay Gardner RJ, Slater HR.
    Clin Chem; 2009 Jul 28; 55(7):1415-8. PubMed ID: 19423733
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  • 19. 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 28; 173(1):207-212. PubMed ID: 27862915
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