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

Year Number of Results
2007 2
2008 6
2009 7
2010 8
2011 8
2012 7
2013 8
2014 9
2015 13
2016 14
2017 10
2018 13
2019 20
2020 11
2021 10
2022 4
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Search Results

138 results
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Page 1
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
Diagnostic delay in patients with FKRP-related muscular dystrophy.
Coffey LN, Stephan CM, Zimmerman MB, Decker CK, Mathews KD. Coffey LN, et al. Neuromuscul Disord. 2021 Dec;31(12):1235-1240. doi: 10.1016/j.nmd.2021.08.013. Epub 2021 Sep 6. Neuromuscul Disord. 2021. PMID: 34857438 Clinical Trial.
Training the next generation of biomedical investigators in glycosciences.
Agre P, Bertozzi C, Bissell M, Campbell KP, Cummings RD, Desai UR, Estes M, Flotte T, Fogleman G, Gage F, Ginsburg D, Gordon JI, Hart G, Hascall V, Kiessling L, Kornfeld S, Lowe J, Magnani J, Mahal LK, Medzhitov R, Roberts RJ, Sackstein R, Sarkar R, Schnaar R, Schwartz N, Varki A, Walt D, Weissman I. Agre P, et al. J Clin Invest. 2016 Feb;126(2):405-8. doi: 10.1172/JCI85905. Epub 2016 Feb 1. J Clin Invest. 2016. PMID: 26829621 Free PMC article. Review.
Needs management in families affected by childhood-onset dystrophinopathies.
Conway KM, Eichinger K, Trout C, Romitti PA, Mathews KD, Pandya SK; Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Conway KM, et al. SAGE Open Med. 2019 Mar 2;7:2050312119834470. doi: 10.1177/2050312119834470. eCollection 2019. SAGE Open Med. 2019. PMID: 30854202 Free PMC article.
Dysferlin and muscle membrane repair.
Han R, Campbell KP. Han R, et al. Curr Opin Cell Biol. 2007 Aug;19(4):409-16. doi: 10.1016/j.ceb.2007.07.001. Epub 2007 Jul 26. Curr Opin Cell Biol. 2007. PMID: 17662592 Free PMC article. Review.
Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Ashizawa T, et al. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
138 results