Romero NB - Search Results

1

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M. Durieux AC, et al. Among authors: romero nb. Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858595

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

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

4

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Quijano Roy S, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Moghadaszadeh B, et al. Nat Genet. 2001 Sep;29(1):17-8. doi: 10.1038/ng713. Nat Genet. 2001. PMID: 11528383

5

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Brockington M, et al. Among authors: romero nb. Am J Hum Genet. 2001 Dec;69(6):1198-209. doi: 10.1086/324412. Epub 2001 Oct 8. Am J Hum Genet. 2001. PMID: 11592034 Free PMC article.

6

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

7

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Quijano-Roy S, Galan L, Ferreiro A, Cheliout-Héraut F, Gray F, Fardeau M, Barois A, Guicheney P, Romero NB, Estournet B. Quijano-Roy S, et al. Among authors: romero nb. Neuromuscul Disord. 2002 Jun;12(5):466-75. doi: 10.1016/s0960-8966(01)00331-5. Neuromuscul Disord. 2002. PMID: 12031620

8

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.

Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: romero nb. Ann Neurol. 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. Ann Neurol. 2002. PMID: 12112081

9

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, Romero NB, Martin JJ, Muntoni F, Voit T, Estournet B, Richard P, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: romero nb. Am J Hum Genet. 2002 Oct;71(4):739-49. doi: 10.1086/342719. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192640 Free PMC article.

10

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G, D'Apice MR, Lagier-Tourenne C, Buj-Bello A, Romero NB, Mandel JL. Biancalana V, et al. Among authors: romero nb. Hum Genet. 2003 Feb;112(2):135-42. doi: 10.1007/s00439-002-0869-1. Epub 2002 Nov 28. Hum Genet. 2003. PMID: 12522554

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

307 results

Search Page

Filters