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Year Number of Results
2013 2
2014 3
2015 3
2016 3
2017 2
2018 4
2019 2
2020 3
2021 6
2022 3
2023 1
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27 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: shatillo a. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: shatillo av. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Koeks Z, et al. Among authors: shatillo av. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.
Orientation selective deep brain stimulation.
Lehto LJ, Slopsema JP, Johnson MD, Shatillo A, Teplitzky BA, Utecht L, Adriany G, Mangia S, Sierra A, Low WC, Gröhn O, Michaeli S. Lehto LJ, et al. Among authors: shatillo a. J Neural Eng. 2017 Feb;14(1):016016. doi: 10.1088/1741-2552/aa5238. Epub 2017 Jan 9. J Neural Eng. 2017. PMID: 28068296 Free PMC article.
Mechanical ventilation in Duchenne muscular dystrophy: A pilot project in Ukraine.
Tsarenko A, Trofimov I, Shatillo A, Kostiukova D, Kobylinskyi S, Melnyk S, Riiatchenko S, Berdykova Y, Morozova M, Marichuk M, Bondarenko S, Gutarev A, Toussaint M; Ukraine HMV Consortium. Tsarenko A, et al. Among authors: shatillo a. Pediatr Int. 2022 Jan;64(1):e15225. doi: 10.1111/ped.15225. Pediatr Int. 2022. PMID: 35727867
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.
Selvatici R, Rossi R, Fortunato F, Trabanelli C, Sifi Y, Margutti A, Neri M, Gualandi F, Szabò L, Fekete B, Angelova L, Litvinenko I, Ivanov I, Vildan Y, Iuhas OA, Vintan M, Burloiu C, Lacramioara B, Visa G, Epure D, Rusu C, Vasile D, Sandu M, Vlodavets D, Mager M, Kyriakides T, Delin S, Lehman I, Fureš JS, Bojinova V, Militaru M, Guergueltcheva V, Burnyte B, Molnar MJ, Butoianu N, Bensemmane SD, Makri-Mokrane S, Herczegfalvi A, Panzaru M, Emandi AC, Lusakowska A, Potulska-Chromik A, Kostera-Pruszczyk A, Shatillo A, Khelladi DB, Dendane O, Fang M, Lu Z, Ferlini A. Selvatici R, et al. Among authors: shatillo a. Neurol Genet. 2020 Dec 24;7(1):e536. doi: 10.1212/NXG.0000000000000536. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33376799 Free PMC article.
Cognitive disturbances in the cuprizone model of multiple sclerosis.
Kopanitsa MV, Lehtimäki KK, Forsman M, Suhonen A, Koponen J, Piiponniemi TO, Kärkkäinen AM, Pavlidi P, Shatillo A, Sweeney PJ, Merenlender-Wagner A, Kaye J, Orbach A, Nurmi A. Kopanitsa MV, et al. Among authors: shatillo a. Genes Brain Behav. 2021 Jan;20(1):e12663. doi: 10.1111/gbb.12663. Epub 2020 May 25. Genes Brain Behav. 2021. PMID: 32372528 Free article.
Implantable RF-coil with multiple electrodes for long-term EEG-fMRI monitoring in rodents.
Pirttimäki T, Salo RA, Shatillo A, Kettunen MI, Paasonen J, Sierra A, Jokivarsi K, Leinonen V, Andrade P, Quittek S, Pitkänen A, Gröhn O. Pirttimäki T, et al. Among authors: shatillo a. J Neurosci Methods. 2016 Dec 1;274:154-163. doi: 10.1016/j.jneumeth.2016.10.014. Epub 2016 Oct 21. J Neurosci Methods. 2016. PMID: 27777001 Free article.
27 results