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

Year Number of Results
1989 1
1992 2
1993 3
1994 2
1995 1
1996 2
1997 2
1998 2
2000 2
2001 3
2002 5
2003 5
2004 6
2005 6
2006 7
2007 6
2008 5
2009 8
2010 10
2011 7
2012 9
2013 14
2014 13
2015 11
2016 16
2017 15
2018 14
2019 16
2020 15
2021 11
2022 12
2023 2
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Article attribute
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Search Results

207 results
Results by year
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Page 1
[PYROXD1-related myopathy].
Lornage X, Romero NB, Laporte J, Böhm J. Lornage X, et al. Among authors: romero nb. Med Sci (Paris). 2019 Nov;35 Hors série n° 2:43-44. doi: 10.1051/medsci/2019183. Epub 2019 Dec 20. Med Sci (Paris). 2019. PMID: 31859631 Free article. Review. French.
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: romero nb. Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693. Hum Mutat. 2014. PMID: 25205138 Free PMC article.
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Among authors: romero nb. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
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: romero nb. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC article.
Centronuclear myopathies.
Romero NB, Bitoun M. Romero NB, et al. Semin Pediatr Neurol. 2011 Dec;18(4):250-6. doi: 10.1016/j.spen.2011.10.006. Semin Pediatr Neurol. 2011. PMID: 22172420 Review. No abstract available.
Congenital myopathies.
Romero NB, Clarke NF. Romero NB, et al. Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. Handb Clin Neurol. 2013. PMID: 23622357 Review.
[AcadeMYO, a successful bet].
Urtizberea JA, Romero NB. Urtizberea JA, et al. Among authors: romero nb. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:5. doi: 10.1051/medsci/2021199. Epub 2021 Dec 8. Med Sci (Paris). 2021. PMID: 34878384 Free article. French. No abstract available.
Diseases of the skeletal muscle.
Malfatti E, Romero NB. Malfatti E, et al. Among authors: romero nb. Handb Clin Neurol. 2017;145:429-451. doi: 10.1016/B978-0-12-802395-2.00030-4. Handb Clin Neurol. 2017. PMID: 28987188 Review.
Acute rhabdomyolysis and inflammation.
Hamel Y, Mamoune A, Mauvais FX, Habarou F, Lallement L, Romero NB, Ottolenghi C, de Lonlay P. Hamel Y, et al. Among authors: romero nb. J Inherit Metab Dis. 2015 Jul;38(4):621-8. doi: 10.1007/s10545-015-9827-7. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778939 Review.
Nemaline myopathies: State of the art.
Malfatti E, Romero NB. Malfatti E, et al. Among authors: romero nb. Rev Neurol (Paris). 2016 Oct;172(10):614-619. doi: 10.1016/j.neurol.2016.08.004. Epub 2016 Sep 19. Rev Neurol (Paris). 2016. PMID: 27659899 Review.
207 results