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

Year Number of Results
1947 1
1953 1
1957 3
1958 1
1959 2
1960 3
1962 1
1965 3
1968 3
1969 3
1970 3
1972 2
1974 1
1975 1
1980 1
1982 1
1983 1
1984 1
1985 2
1986 3
1988 3
1989 6
1990 2
1991 7
1992 4
1993 3
1994 4
1995 4
1996 1
1997 4
1998 4
1999 5
2000 4
2002 2
2003 3
2004 1
2005 2
2006 5
2007 4
2008 4
2009 2
2010 3
2011 1
2013 3
2014 7
2015 5
2016 6
2017 5
2018 9
2019 3
2020 8
2021 7
2022 6
2023 3
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165 results
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Page 1
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: nelson i. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: nelson i. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
A PKA inhibitor motif within SMOOTHENED controls Hedgehog signal transduction.
Happ JT, Arveseth CD, Bruystens J, Bertinetti D, Nelson IB, Olivieri C, Zhang J, Hedeen DS, Zhu JF, Capener JL, Bröckel JW, Vu L, King CC, Ruiz-Perez VL, Ge X, Veglia G, Herberg FW, Taylor SS, Myers BR. Happ JT, et al. Among authors: nelson ib. Nat Struct Mol Biol. 2022 Oct;29(10):990-999. doi: 10.1038/s41594-022-00838-z. Epub 2022 Oct 6. Nat Struct Mol Biol. 2022. PMID: 36202993
Histone 3 Methyltransferases Alter Melanoma Initiation and Progression Through Discrete Mechanisms.
DiNapoli SE, Martinez-McFaline R, Shen H, Doane AS, Perez AR, Verma A, Simon A, Nelson I, Balgobin CA, Bourque CT, Yao J, Raman R, Béguelin W, Zippin JH, Elemento O, Melnick AM, Houvras Y. DiNapoli SE, et al. Among authors: nelson i. Front Cell Dev Biol. 2022 Feb 10;10:814216. doi: 10.3389/fcell.2022.814216. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35223844 Free PMC article.
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A, Salort-Campana E, Wahbi K, Richard P, Carlier RY, Carlier P, Laforêt P, Stojkovic T, Maisonobe T, Verschueren A, Franques J, Attarian S, Maues de Paula A, Figarella-Branger D, Bécane HM, Nelson I, Duboc D, Bonne G, Vicart P, Udd B, Romero N, Pouget J, Eymard B. Béhin A, et al. Among authors: nelson i. Rev Neurol (Paris). 2015 Oct;171(10):715-29. doi: 10.1016/j.neurol.2015.06.002. Epub 2015 Sep 3. Rev Neurol (Paris). 2015. PMID: 26342832 Review.
Pyrexia after cisplatin.
Ashford RF, McLachlan A, Nelson I, Mughal T, Pickering D. Ashford RF, et al. Among authors: nelson i. Lancet. 1980 Sep 27;2(8196):691-2. doi: 10.1016/s0140-6736(80)92726-9. Lancet. 1980. PMID: 6106801 No abstract available.
Smoothened transduces Hedgehog signals via activity-dependent sequestration of PKA catalytic subunits.
Arveseth CD, Happ JT, Hedeen DS, Zhu JF, Capener JL, Klatt Shaw D, Deshpande I, Liang J, Xu J, Stubben SL, Nelson IB, Walker MF, Kawakami K, Inoue A, Krogan NJ, Grunwald DJ, Hüttenhain R, Manglik A, Myers BR. Arveseth CD, et al. Among authors: nelson ib. PLoS Biol. 2021 Apr 22;19(4):e3001191. doi: 10.1371/journal.pbio.3001191. eCollection 2021 Apr. PLoS Biol. 2021. PMID: 33886552 Free PMC article.
165 results