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Results by year

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 5
2023 7
2024 5

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173 results

Results by year

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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.
Brain-wide circuit-specific targeting of astrocytes.
Thompson A, Arano R, Saleem U, Preciado R, Munoz L, Nelson I, Ramos K, Kim Y, Li Y, Xu W. Thompson A, et al. Among authors: nelson i. Cell Rep Methods. 2023 Dec 18;3(12):100653. doi: 10.1016/j.crmeth.2023.100653. Epub 2023 Dec 4. Cell Rep Methods. 2023. PMID: 38052209 Free PMC article.
Titin copy number variations associated with dominant inherited phenotypes.
Perrin A, Métay C, Savarese M, Ben Yaou R, Demidov G, Nelson I, Solé G, Péréon Y, Bertini ES, Fattori F, D'Amico A, Ricci F, Ginsberg M, Seferian A, Boespflug-Tanguy O, Servais L, Chapon F, Lagrange E, Gaudon K, Bloch A, Ghanem R, Guyant-Maréchal L, Johari M, Van Goethem C, Fardeau M, Morales RJ, Genetti CA, Marttila M, Koenig M, Beggs AH, Udd B, Bonne G, Cossée M. Perrin A, et al. Among authors: nelson i. J Med Genet. 2024 Mar 21;61(4):369-377. doi: 10.1136/jmg-2023-109473. J Med Genet. 2024. PMID: 37935568
GRK2 Kinases in the Primary Cilium Initiate SMOOTHENED-PKA Signaling in the Hedgehog Cascade.
Walker MF, Zhang J, Steiner W, Ku PI, Zhu JF, Michaelson Z, Yen YC, Lee A, Long AB, Casey MJ, Poddar A, Nelson IB, Arveseth CD, Nagel F, Clough R, LaPotin S, Kwan KM, Schulz S, Stewart RA, Tesmer JJG, Caspary T, Subramanian R, Ge X, Myers BR. Walker MF, et al. Among authors: nelson ib. bioRxiv [Preprint]. 2024 Apr 18:2023.05.10.540226. doi: 10.1101/2023.05.10.540226. bioRxiv. 2024. PMID: 37214942 Free PMC article. Preprint.
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.
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 Free PMC article.
173 results