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

Year Number of Results
1992 1
1993 1
1994 2
1995 3
1996 3
1997 2
1998 2
2000 2
2001 1
2002 1
2003 2
2004 5
2005 1
2006 1
2007 6
2008 5
2009 4
2010 8
2011 8
2012 8
2013 12
2014 13
2015 8
2016 10
2017 4
2018 8
2019 15
2020 11
2021 15
2022 1
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Search Results

144 results
Results by year
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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. Among authors: quinlivan r. 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.
Rhabdomyolysis: a genetic perspective.
Scalco RS, Gardiner AR, Pitceathly RD, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H, Quinlivan R. Scalco RS, et al. Among authors: quinlivan r. Orphanet J Rare Dis. 2015 May 2;10:51. doi: 10.1186/s13023-015-0264-3. Orphanet J Rare Dis. 2015. PMID: 25929793 Free PMC article. Review.
Scoliosis in Duchenne muscular dystrophy (DMD).
Hsu JD, Quinlivan R. Hsu JD, et al. Among authors: quinlivan r. Neuromuscul Disord. 2013 Aug;23(8):611-7. doi: 10.1016/j.nmd.2013.05.003. Epub 2013 Jun 6. Neuromuscul Disord. 2013. PMID: 23746543 Review.
Skeletal muscle disorders of glycogenolysis and glycolysis.
Godfrey R, Quinlivan R. Godfrey R, et al. Among authors: quinlivan r. Nat Rev Neurol. 2016 Jul;12(7):393-402. doi: 10.1038/nrneurol.2016.75. Epub 2016 May 27. Nat Rev Neurol. 2016. PMID: 27231184 Review.
Physical training for McArdle disease.
Quinlivan R, Vissing J, Hilton-Jones D, Buckley J. Quinlivan R, et al. Cochrane Database Syst Rev. 2011 Dec 7;(12):CD007931. doi: 10.1002/14651858.CD007931.pub2. Cochrane Database Syst Rev. 2011. PMID: 22161416 Review.
Cardiac manifestations of McArdle disease.
Jones DM, Lopes L, Quinlivan R, Elliott PM, Khanji MY. Jones DM, et al. Among authors: quinlivan r. Eur Heart J. 2019 Jan 21;40(4):397-398. doi: 10.1093/eurheartj/ehy783. Eur Heart J. 2019. PMID: 30534954 No abstract available.
Myopathic causes of exercise intolerance with rhabdomyolysis.
Quinlivan R, Jungbluth H. Quinlivan R, et al. Dev Med Child Neurol. 2012 Oct;54(10):886-91. doi: 10.1111/j.1469-8749.2012.04320.x. Epub 2012 May 23. Dev Med Child Neurol. 2012. PMID: 22616958 Free article. Review.
144 results