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

Year Number of Results
2002 1
2003 1
2005 1
2006 1
2007 2
2008 1
2009 1
2010 5
2011 4
2012 4
2013 2
2015 3
2016 4
2017 6
2018 5
2019 3
2020 5
2021 3
2022 1
2023 1
2024 1

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PubMed (GeneRIF) for id: 11284

46 results

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Page 1
Characteristics of epilepsy secondary to mutations in the PNKP gene.
Furones García M, Ortiz Cabrera NV, Soto Insuga V, García Peñas JJ. Furones García M, et al. Neurologia (Engl Ed). 2021 Nov-Dec;36(9):713-716. doi: 10.1016/j.nrleng.2020.11.013. Epub 2021 Jul 9. Neurologia (Engl Ed). 2021. PMID: 34247972 Free article. No abstract available.
PIAS1 modulates striatal transcription, DNA damage repair, and SUMOylation with relevance to Huntington's disease.
Morozko EL, Smith-Geater C, Monteys AM, Pradhan S, Lim RG, Langfelder P, Kachemov M, Kulkarni JA, Zaifman J, Hill A, Stocksdale JT, Cullis PR, Wu J, Ochaba J, Miramontes R, Chakraborty A, Hazra TK, Lau A, St-Cyr S, Orellana I, Kopan L, Wang KQ, Yeung S, Leavitt BR, Reidling JC, Yang XW, Steffan JS, Davidson BL, Sarkar PS, Thompson LM. Morozko EL, et al. Proc Natl Acad Sci U S A. 2021 Jan 26;118(4):e2021836118. doi: 10.1073/pnas.2021836118. Proc Natl Acad Sci U S A. 2021. PMID: 33468657 Free PMC article.
Mutational survivorship bias: The case of PNKP.
Bermúdez-Guzmán L, Jimenez-Huezo G, Arguedas A, Leal A. Bermúdez-Guzmán L, et al. PLoS One. 2020 Dec 17;15(12):e0237682. doi: 10.1371/journal.pone.0237682. eCollection 2020. PLoS One. 2020. PMID: 33332469 Free PMC article.
The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort.
Garrelfs MR, Takada S, Kamsteeg EJ, Pegge S, Mancini G, Engelen M, van de Warrenburg B, Rennings A, van Gaalen J, Peters I, Weemaes C, van der Burg M, Willemsen MA. Garrelfs MR, et al. Pediatr Neurol. 2020 Dec;113:26-32. doi: 10.1016/j.pediatrneurol.2020.07.014. Epub 2020 Jul 28. Pediatr Neurol. 2020. PMID: 32980744 Free article.
Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis.
Chakraborty A, Tapryal N, Venkova T, Mitra J, Vasquez V, Sarker AH, Duarte-Silva S, Huai W, Ashizawa T, Ghosh G, Maciel P, Sarkar PS, Hegde ML, Chen X, Hazra TK. Chakraborty A, et al. Proc Natl Acad Sci U S A. 2020 Apr 7;117(14):8154-8165. doi: 10.1073/pnas.1917280117. Epub 2020 Mar 23. Proc Natl Acad Sci U S A. 2020. PMID: 32205441 Free PMC article.
46 results