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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 2
1994 3
1995 4
1996 3
1997 2
1998 5
1999 1
2000 6
2001 7
2002 7
2003 15
2004 13
2005 8
2006 11
2007 9
2008 9
2009 11
2010 14
2011 10
2012 14
2013 8
2014 11
2015 12
2016 14
2017 15
2018 11
2019 12
2020 6
2021 11
2022 15
2023 11
2024 1

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PubMed for id: 3708

251 results

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Page 1
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; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
Inositol Trisphosphate Receptors and Nuclear Calcium in Atrial Fibrillation.
Qi XY, Vahdati Hassani F, Hoffmann D, Xiao J, Xiong F, Villeneuve LR, Ljubojevic-Holzer S, Kamler M, Abu-Taha I, Heijman J, Bers DM, Dobrev D, Nattel S. Qi XY, et al. Circ Res. 2021 Mar 5;128(5):619-635. doi: 10.1161/CIRCRESAHA.120.317768. Epub 2020 Dec 30. Circ Res. 2021. PMID: 33375812 Free PMC article.
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R. Synofzik M, et al. Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20. Eur J Hum Genet. 2018. PMID: 29925855 Free PMC article.
251 results