Romero NB - Search Results

1

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.

Evangelista T, Lornage X, Carlier PG, Bassez G, Brochier G, Chanut A, Lacène E, Bui MT, Metay C, Oppermann U, Böhm J, Laporte J, Romero NB. Evangelista T, et al. Among authors: romero nb. J Neuropathol Exp Neurol. 2020 Aug 1;79(8):908-914. doi: 10.1093/jnen/nlaa052. J Neuropathol Exp Neurol. 2020. PMID: 32607581

2

[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry].

Laforêt P, Wary C, Duteil S, de Kerviler E, Carlier PG, Lombès A, Romero NB, Fardeau M, Eymard B, Leroy-Willig A. Laforêt P, et al. Among authors: romero nb. Rev Neurol (Paris). 2003 Jan;159(1):56-67. Rev Neurol (Paris). 2003. PMID: 12618654 Clinical Trial. French.

3

Clinical and histologic findings in autosomal centronuclear myopathy.

Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Among authors: romero nb. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.

4

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: romero nb. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.

5

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.

Laforêt P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D. Laforêt P, et al. Among authors: romero nb. Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17. Neuromuscul Disord. 2006. PMID: 16487706

6

Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.

Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A. Auré K, et al. Among authors: romero nb. Brain. 2006 May;129(Pt 5):1249-59. doi: 10.1093/brain/awl061. Epub 2006 Mar 14. Brain. 2006. PMID: 16537564

7

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, Romero NB. Fischer D, et al. Among authors: romero nb. Brain. 2006 Jun;129(Pt 6):1463-9. doi: 10.1093/brain/awl071. Epub 2006 Apr 3. Brain. 2006. PMID: 16585051

8

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG. Nowak KJ, et al. Among authors: romero nb. Ann Neurol. 2007 Feb;61(2):175-84. doi: 10.1002/ana.21035. Ann Neurol. 2007. PMID: 17187373

9

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

10

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Nguyen K, et al. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176. Arch Neurol. 2007. PMID: 17698709

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