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

Year Number of Results
2002 2
2003 1
2004 6
2005 4
2006 5
2007 3
2008 8
2009 9
2010 8
2011 5
2012 3
2013 8
2014 7
2015 8
2016 6
2017 4
2018 6
2019 8
2020 8
2021 7
2022 4
2023 7
2024 3

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119 results

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Page 1
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Nurmi K, Silventoinen K, Keskitalo S, Rajamäki K, Kouri VP, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juárez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordström DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck F, Jahkola T, Hautala T, Varjosalo M, Barreto G, Seppänen MRJ, Eklund KK. Nurmi K, et al. Among authors: saarela j. Cell Rep Med. 2024 Apr 16;5(4):101503. doi: 10.1016/j.xcrm.2024.101503. Epub 2024 Apr 8. Cell Rep Med. 2024. PMID: 38593810 Free PMC article.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J. Lehtonen J, et al. Among authors: saarela j. Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4. Sci Rep. 2024. PMID: 38383731 Free PMC article.
Meeting Summary of The NYO3 5th NO-Age/AD Meeting and the 1st Norway-UK Joint Meeting on Aging and Dementia: Recent Progress on the Mechanisms and Interventional Strategies.
Wang HL, Siow R, Schmauck-Medina T, Zhang J, Sandset PM, Filshie C, Lund Ø, Partridge L, Bergersen LH, Juel Rasmussen L, Palikaras K, Sotiropoulos I, Storm-Mathisen J, Rubinsztein DC, Spillantini MG, De Zeeuw CI, Watne LO, Vyhnalek M, Veverova K, Liang KX, Tavernarakis N, Bohr VA, Yokote K, Saarela J, Nilsen H, Gonos ES, Scheibye-Knudsen M, Chen G, Kato H, Selbæk G, Fladby T, Nilsson P, Simonsen A, Aarsland D, Lautrup S, Ottersen OP, Cox LS, Fang EF. Wang HL, et al. Among authors: saarela j. J Gerontol A Biol Sci Med Sci. 2024 Apr 1;79(4):glae029. doi: 10.1093/gerona/glae029. J Gerontol A Biol Sci Med Sci. 2024. PMID: 38289789 Free PMC article.
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.
Olkinuora A, Nieminen TT, Douglas S, Kauppinen A, Kontro M, Väänänen J, Kankainen M, Ristimäki A, Mäkinen M, Lahermo P, Heckman C, Saarela J, Salonen M, Lepistö A, Järvinen H, Mecklin JP, Kilpivaara O, Wartiovaara-Kautto U, Porkka K, Peltomäki P. Olkinuora A, et al. Among authors: saarela j. Leukemia. 2023 Nov;37(11):2301-2305. doi: 10.1038/s41375-023-02021-9. Epub 2023 Sep 11. Leukemia. 2023. PMID: 37696923 Free PMC article. No abstract available.
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. Lee PY, et al. Among authors: saarela j. JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894. JAMA Netw Open. 2023. PMID: 37256629 Free article. Review.
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
Santaniemi W, Åström P, Glumoff V, Pernaa N, Tallgren EN, Palosaari S, Nissinen A, Kaustio M, Kuismin O, Saarela J, Nurmi K, Eklund KK, Seppänen MRJ, Hautala T. Santaniemi W, et al. Among authors: saarela j. J Clin Immunol. 2023 Jul;43(5):1007-1018. doi: 10.1007/s10875-023-01461-3. Epub 2023 Mar 9. J Clin Immunol. 2023. PMID: 36892687 Free PMC article.
Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae.
Tuovinen EA, Kuismin O, Soikkonen L, Martelius T, Kaustio M, Hämäläinen S, Viskari H, Syrjänen J, Wartiovaara-Kautto U, Eklund KK, Saarela J, Varjosalo M, Kere J, Hautala T, Seppänen MRJ. Tuovinen EA, et al. Among authors: saarela j. Clin Immunol. 2023 Jan;246:109181. doi: 10.1016/j.clim.2022.109181. Epub 2022 Nov 8. Clin Immunol. 2023. PMID: 36356849 Free article.
119 results