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

Year Number of Results
2002 6
2003 5
2004 5
2005 7
2006 7
2007 5
2008 6
2009 5
2010 8
2011 6
2012 10
2013 18
2014 16
2015 14
2016 16
2017 20
2018 14
2019 19
2020 18
2021 10
2022 14
2023 10
2024 5

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216 results

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Page 1
Obituary.
Romero NB, Urtizberea JA, Quijano-Roy S. Romero NB, et al. Neuromuscul Disord. 2024 Apr 1;38:42-43. doi: 10.1016/j.nmd.2024.03.008. Online ahead of print. Neuromuscul Disord. 2024. PMID: 38564999 No abstract available.
[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.
'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.
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.
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.
Myofibrillar myopathy hallmarks associated with ZAK deficiency.
Stonadge A, Genzor AV, Russell A, Hamed MF, Romero N, Evans G, Pownall ME, Bekker-Jensen S, Blanco G. Stonadge A, et al. Among authors: romero n. Hum Mol Genet. 2023 Aug 26;32(17):2751-2770. doi: 10.1093/hmg/ddad113. Hum Mol Genet. 2023. PMID: 37427997 Free PMC article.
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.
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.
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation.
Lemerle E, Lainé J, Benoist M, Moulay G, Bigot A, Labasse C, Madelaine A, Canette A, Aubin P, Vallat JM, Romero NB, Bitoun M, Mouly V, Marty I, Cadot B, Picas L, Vassilopoulos S. Lemerle E, et al. Among authors: romero nb. Elife. 2023 Apr 21;12:e84139. doi: 10.7554/eLife.84139. Elife. 2023. PMID: 37083699 Free PMC article.
216 results