Romero NB - Search Results

1

In vivo RyR1 reduction in muscle triggers a core-like myopathy.

Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, Travard L, Chivet M, Beaufils M, Kutchukian C, Bendahan D, Metzger D, Franzini Armstrong C, Romero NB, Rendu J, Jacquemond V, Fauré J, Marty I. Pelletier L, et al. Among authors: romero nb. Acta Neuropathol Commun. 2020 Nov 11;8(1):192. doi: 10.1186/s40478-020-01068-4. Acta Neuropathol Commun. 2020. PMID: 33176865 Free PMC article.

2

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. Monnier N, et al. Among authors: romero nb. Hum Mol Genet. 2000 Nov 1;9(18):2599-608. doi: 10.1093/hmg/9.18.2599. Hum Mol Genet. 2000. PMID: 11063719

3

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J. Monnier N, et al. Among authors: romero nb. Hum Mol Genet. 2001 Oct 15;10(22):2581-92. doi: 10.1093/hmg/10.22.2581. Hum Mol Genet. 2001. PMID: 11709545

4

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M. Romero NB, et al. Brain. 2003 Nov;126(Pt 11):2341-9. doi: 10.1093/brain/awg244. Epub 2003 Aug 22. Brain. 2003. PMID: 12937085

5

Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.

Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Monnier N, et al. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667

6

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

Romero NB, Herasse M, Monnier N, Leroy JP, Fischer D, Ferreiro A, Viollet L, Eymard B, Laforêt P, Monges S, Lubieniecki F, Taratuto AL, Guicheney P, Lunardi J, Fardeau M. Romero NB, et al. Acta Myol. 2005 Oct;24(2):70-3. Acta Myol. 2005. PMID: 16550918 Review.

7

Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.

Fischer D, Herasse M, Ferreiro A, Barragán-Campos HM, Chiras J, Viollet L, Maugenre S, Leroy JP, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero NB. Fischer D, et al. Among authors: romero nb. Neurology. 2006 Dec 26;67(12):2217-20. doi: 10.1212/01.wnl.0000249151.45200.71. Neurology. 2006. PMID: 17190947

8

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.

Herasse M, Parain K, Marty I, Monnier N, Kaindl AM, Leroy JP, Richard P, Lunardi J, Romero NB, Ferreiro A. Herasse M, et al. Among authors: romero nb. J Neuropathol Exp Neurol. 2007 Jan;66(1):57-65. doi: 10.1097/NEN.0b013e31802d47ce. J Neuropathol Exp Neurol. 2007. PMID: 17204937

9

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926

10

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua JA, Bitoun M, Biancalana V, Oldfors A, Stoltenburg G, Claeys KG, Lacène E, Brochier G, Manéré L, Laforêt P, Eymard B, Guicheney P, Fardeau M, Romero NB. Bevilacqua JA, et al. Among authors: romero nb. Acta Neuropathol. 2009 Mar;117(3):283-91. doi: 10.1007/s00401-008-0472-1. Epub 2008 Dec 16. Acta Neuropathol. 2009. PMID: 19084976

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