These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 27862915)

  • 1. 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; 173(1):207-212. PubMed ID: 27862915
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 262(5):1278-84. PubMed ID: 25794864
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Superior Cerebellar Atrophy: An Imaging Clue to Diagnose
    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; 23(12):. PubMed ID: 35743164
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
    Klar J; Ali Z; Farooq M; Khan K; Wikström J; Iqbal M; Zulfiqar S; Faryal S; Baig SM; Dahl N
    Eur J Hum Genet; 2017 Jun; 25(7):848-853. PubMed ID: 28488678
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 7():67. PubMed ID: 22986007
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 71(8):547-51. PubMed ID: 18579805
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 68(5):637-43. PubMed ID: 21555639
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
    Tolonen JP; Parolin Schnekenberg R; McGowan S; Sims D; McEntagart M; Elmslie F; Shears D; Stewart H; Tofaris GK; Dabir T; Morrison PJ; Johnson D; Hadjivassiliou M; Ellard S; Shaw-Smith C; Znaczko A; Dixit A; Suri M; Sarkar A; Harrison RE; Jones G; Houlden H; Ceravolo G; Jarvis J; Williams J; Shanks ME; Clouston P; Rankin J; Blumkin L; Lerman-Sagie T; Ponger P; Raskin S; Granath K; Uusimaa J; Conti H; McCann E; Joss S; Blakes AJM; Metcalfe K; Kingston H; Bertoli M; Kneen R; Lynch SA; Martínez Albaladejo I; Moore AP; Jones WD; ; Becker EBE; Németh AH
    Mov Disord; 2024 Jan; 39(1):141-151. PubMed ID: 37964426
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.
    In Lee J; Choi JY; Yang SS
    Mol Genet Genomic Med; 2024 Jun; 12(6):e2466. PubMed ID: 38860480
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Long-term follow-up of an individual with ITPR1-related disorder.
    Cappuccio G; Apuzzo D; Passalacqua P; Parrini E; D'Amico A; Montini T; Brunetti-Pierri N
    Am J Med Genet A; 2020 Jul; 182(7):1846-1847. PubMed ID: 32496011
    [No Abstract]   [Full Text] [Related]  

  • 11. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.
    Dentici ML; Barresi S; Nardella M; Bellacchio E; Alfieri P; Bruselles A; Pantaleoni F; Danieli A; Iarossi G; Cappa M; Bertini E; Tartaglia M; Zanni G
    Gene; 2017 Sep; 628():141-145. PubMed ID: 28698159
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Quadrupedal gait and cerebellar hypoplasia, the Uner Tan syndrome, caused by ITPR1 gene mutation.
    Raslan IR; França MC; Oliveira JB; Schuurs-Hoeijmakers JHM; Pfundt R; Kok F; Barsottini OGP; Pedroso JL
    Parkinsonism Relat Disord; 2021 Nov; 92():33-35. PubMed ID: 34673285
    [No Abstract]   [Full Text] [Related]  

  • 13. 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; 91(1):86-91. PubMed ID: 27062503
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 9(1):115-23. PubMed ID: 20082166
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; ; Dudding-Byth T; Boycott KM
    Orphanet J Rare Dis; 2017 Jun; 12(1):121. PubMed ID: 28659154
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 48(6):407-12. PubMed ID: 21367767
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 25(6):771-3. PubMed ID: 20437544
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.