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

Year Number of Results
1993 3
2002 3
2003 8
2004 5
2005 6
2006 5
2007 5
2008 5
2009 4
2010 8
2011 8
2012 7
2013 11
2014 4
2015 3
2016 4
2017 5
2018 7
2019 11
2020 8
2021 11
2022 15
2023 9
2024 2

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135 results

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Page 1
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.
Mušálková D, Přistoupilová A, Jedličková I, Hartmannová H, Trešlová H, Nosková L, Hodaňová K, Bittmanová P, Stránecký V, Jiřička V, Langmajerová M, Woodbury-Smith M, Zarrei M, Trost B, Scherer SW, Bleyer AJ, Vevera J, Kmoch S. Mušálková D, et al. Among authors: bleyer aj. Genes Brain Behav. 2024 Feb;23(1):e12882. doi: 10.1111/gbb.12882. Genes Brain Behav. 2024. PMID: 38359179 Free PMC article.
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.
Kmochová T, Kidd KO, Orr A, Hnízda A, Hartmannová H, Hodaňová K, Vyleťal P, Naušová K, Brinsa V, Trešlová H, Sovová J, Barešová V, Svojšová K, Vrbacká A, Stránecký V, Robins VC, Taylor A, Martin L, Rivas-Chavez A, Payne R, Bleyer HA, Williams A, Rennke HG, Weins A, Short PJ, Agrawal V, Storsley LJ, Waikar SS, McPhail ED, Dasari S, Leung N, Hewlett T, Yorke J, Gaston D, Geldenhuys L, Samuels M, Levine AP, West M, Hůlková H, Pompach P, Novák P, Weinberg RB, Bedard K, Živná M, Sikora J, Bleyer AJ Sr, Kmoch S. Kmochová T, et al. Among authors: bleyer aj sr. Kidney Int. 2024 Apr;105(4):799-811. doi: 10.1016/j.kint.2023.11.021. Epub 2023 Dec 12. Kidney Int. 2024. PMID: 38096951
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice.
Kim Y, Li C, Gu C, Fang Y, Tycksen E, Puri A, Pietka TA, Sivapackiam J, Kidd K, Park SJ, Johnson BG, Kmoch S, Duffield JS, Bleyer AJ, Jackrel ME, Urano F, Sharma V, Lindahl M, Chen YM. Kim Y, et al. Among authors: bleyer aj. Nat Commun. 2023 Oct 14;14(1):6493. doi: 10.1038/s41467-023-42154-0. Nat Commun. 2023. PMID: 37838725 Free PMC article.
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD.
Jorge S, Kidd K, Vylet'al P, Nogueira E, Martin L, Howard K, Barešová V, Hodaňová K, Hnízda A, Moldovan O, Silveira C, Coutinho AM, Lopes JA, Bleyer AJ, Kmoch S, Živná M. Jorge S, et al. Among authors: bleyer aj. Kidney Int Rep. 2023 Jan 16;8(5):1112-1116. doi: 10.1016/j.ekir.2023.01.017. eCollection 2023 May. Kidney Int Rep. 2023. PMID: 37180515 Free PMC article. No abstract available.
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.
Airik M, Arbore H, Childs E, Huynh AB, Phua YL, Chen CW, Aird K, Bharathi S, Zhang B, Conlon P, Kmoch S, Kidd K, Bleyer AJ, Vockley J, Goetzman E, Wipf P, Airik R. Airik M, et al. Among authors: bleyer aj. Antioxidants (Basel). 2023 Apr 8;12(4):900. doi: 10.3390/antiox12040900. Antioxidants (Basel). 2023. PMID: 37107275 Free PMC article.
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.
de Haan A, van Eerde AM, Eijgelsheim M, Rump P, van der Zwaag B, Hennekam E, Živná M, Kmoch S, Bleyer AJ, Kidd K, Vogt L, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: bleyer aj. Kidney Int. 2023 May;103(5):986-989. doi: 10.1016/j.kint.2023.02.021. Epub 2023 Mar 22. Kidney Int. 2023. PMID: 37085259 Free article. No abstract available.
MANF stimulates autophagy and restores mitochondrial homeostasis to treat toxic proteinopathy.
Kim Y, Li C, Gu C, Tycksen E, Puri A, Pietka TA, Sivapackiam J, Fang Y, Kidd K, Park SJ, Johnson BG, Kmoch S, Duffield JS, Bleyer AJ, Jackrel ME, Urano F, Sharma V, Lindahl M, Chen YM. Kim Y, et al. Among authors: bleyer aj. bioRxiv [Preprint]. 2023 Jan 12:2023.01.10.523171. doi: 10.1101/2023.01.10.523171. bioRxiv. 2023. PMID: 36711449 Free PMC article. Updated. Preprint.
135 results