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Journal Abstract Search

206 related items for PubMed ID: 35148930

  • 21. Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
    Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.
    Am J Hum Genet; 2016 May 05; 98(5):971-980. PubMed ID: 27108797
    [Abstract] [Full Text] [Related]

  • 22. 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 05; 68(5):637-43. PubMed ID: 21555639
    [Abstract] [Full Text] [Related]

  • 23. Two unrelated fetuses with ITPR1 missense variants and fetal hydrops.
    Harris S, Putra M, Gilmore KL, Vora NL.
    Prenat Diagn; 2023 Oct 05; 43(11):1463-1466. PubMed ID: 37705153
    [Abstract] [Full Text] [Related]

  • 24. Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
    Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, Barone MR, Cusmai R, Tartaglia M, Bertini E, Zanni G.
    Clin Genet; 2017 Jan 05; 91(1):86-91. PubMed ID: 27062503
    [Abstract] [Full Text] [Related]

  • 25. Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.
    De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.
    BMC Pediatr; 2018 Sep 24; 18(1):308. PubMed ID: 30249237
    [Abstract] [Full Text] [Related]

  • 26. 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 24; 57(3):202-6. PubMed ID: 22318346
    [Abstract] [Full Text] [Related]

  • 27. Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
    Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S.
    Cerebellum; 2018 Apr 24; 17(2):237-242. PubMed ID: 28895081
    [Abstract] [Full Text] [Related]

  • 28. Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
    Stendel C, Wagner M, Rudolph G, Klopstock T.
    Neuropediatrics; 2019 Dec 24; 50(6):382-386. PubMed ID: 31340402
    [Abstract] [Full Text] [Related]

  • 29. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
    Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.
    Am J Med Genet A; 2018 Jun 24; 176(6):1427-1431. PubMed ID: 29663667
    [Abstract] [Full Text] [Related]

  • 30. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
    Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A.
    Am J Hum Genet; 2023 Jul 06; 110(7):1098-1109. PubMed ID: 37301203
    [Abstract] [Full Text] [Related]

  • 31. 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 06; 3(6):e108. PubMed ID: 17590087
    [Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. Slowly progressive cerebellar ataxia and cervical dystonia: clinical presentation of a new form of spinocerebellar ataxia?
    Kuoppamäki M, Giunti P, Quinn N, Wood NW, Bhatia KP.
    Mov Disord; 2003 Feb 30; 18(2):200-6. PubMed ID: 12539216
    [Abstract] [Full Text] [Related]

  • 34. Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.
    Di Gregorio E, Orsi L, Godani M, Vaula G, Jensen S, Salmon E, Ferrari G, Squadrone S, Abete MC, Cagnoli C, Brussino A, Brusco A.
    Cerebellum; 2010 Mar 30; 9(1):115-23. PubMed ID: 20082166
    [Abstract] [Full Text] [Related]

  • 35. Spinocerebellar Ataxia type 29 in a family of Māori descent.
    Ngo KJ, Poke G, Neas K, Fogel BL.
    Cerebellum Ataxias; 2019 Mar 30; 6():14. PubMed ID: 31632679
    [Abstract] [Full Text] [Related]

  • 36. 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 30; 26(1-2):108-17. PubMed ID: 25354648
    [Abstract] [Full Text] [Related]

  • 37. Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
    Tada M, Nishizawa M, Onodera O.
    Neurochem Int; 2016 Mar 30; 94():1-8. PubMed ID: 26827887
    [Abstract] [Full Text] [Related]

  • 38. 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 Mar 30; 51(6):497-500. PubMed ID: 28826917
    [Abstract] [Full Text] [Related]

  • 39. Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.
    Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.
    Eur J Med Genet; 2018 Mar 30; 61(3):134-138. PubMed ID: 29169895
    [Abstract] [Full Text] [Related]

  • 40. 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 30; 45(1):32-5. PubMed ID: 17932120
    [Abstract] [Full Text] [Related]

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