Romero NB - Search Results

1

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Krahn M, Pécheux C, Chapon F, Béroud C, Drouin-Garraud V, Laforet P, Romero NB, Penisson-Besnier I, Bernard R, Urtizberea JA, Leturcq F, Lévy N. Krahn M, et al. Among authors: romero nb. Clin Genet. 2007 Dec;72(6):582-92. doi: 10.1111/j.1399-0004.2007.00906.x. Epub 2007 Nov 1. Clin Genet. 2007. PMID: 17979987

2

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M, et al. Romero NB, et al. C R Acad Sci III. 1994 Jan;317(1):70-6. C R Acad Sci III. 1994. PMID: 7987694

3

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.

Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB, et al. Roberds SL, et al. Among authors: romero nb. Cell. 1994 Aug 26;78(4):625-33. doi: 10.1016/0092-8674(94)90527-4. Cell. 1994. PMID: 8069911

4

From adhalinopathies to alpha-sarcoglycanopathies: an overview.

Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FM, Fardeau M, Campbell KP, Kaplan JC. Jeanpierre M, et al. Neuromuscul Disord. 1996 Dec;6(6):463-5. doi: 10.1016/s0960-8966(96)00394-x. Neuromuscul Disord. 1996. PMID: 9027856 Review. No abstract available.

5

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FM, Fardeau M. Eymard B, et al. Among authors: romero nb. Neurology. 1997 May;48(5):1227-34. doi: 10.1212/wnl.48.5.1227. Neurology. 1997. PMID: 9153448

6

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Carrié A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tomé FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Carrié A, et al. J Med Genet. 1997 Jun;34(6):470-5. doi: 10.1136/jmg.34.6.470. J Med Genet. 1997. PMID: 9192266 Free PMC article.

7

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci.

Romero NB, Récan D, Rigal O, Leturcq F, Llense S, Barbot JC, Deburgrave N, Cheval MA, Deniau F, Kaplan JC. Romero NB, et al. Neuromuscul Disord. 1997 Dec;7(8):499-504. doi: 10.1016/s0960-8966(97)00114-4. Neuromuscul Disord. 1997. PMID: 9447607

8

Multi-minicore disease--searching for boundaries: phenotype analysis of 38 cases.

Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. Ferreiro A, et al. Among authors: romero nb. Ann Neurol. 2000 Nov;48(5):745-57. Ann Neurol. 2000. PMID: 11079538

9

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.

Romero NB, De Lonlay P, Llense S, Leturcq F, Touati G, Urtizberea JA, Saudubray JM, Munnich A, Kaplan JC, Récan D. Romero NB, et al. Neuromuscul Disord. 2001 Jul;11(5):494-8. doi: 10.1016/s0960-8966(01)00192-4. Neuromuscul Disord. 2001. PMID: 11404124

10

[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.

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