Nicole S - Search Results

1

The molecular bases of spinal muscular atrophy.

Frugier T, Nicole S, Cifuentes-Diaz C, Melki J. Frugier T, et al. Among authors: nicole s. Curr Opin Genet Dev. 2002 Jun;12(3):294-8. doi: 10.1016/s0959-437x(02)00301-5. Curr Opin Genet Dev. 2002. PMID: 12076672 Review.

2

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.

Cifuentes-Diaz C, Nicole S, Velasco ME, Borra-Cebrian C, Panozzo C, Frugier T, Millet G, Roblot N, Joshi V, Melki J. Cifuentes-Diaz C, et al. Among authors: nicole s. Hum Mol Genet. 2002 Jun 1;11(12):1439-47. doi: 10.1093/hmg/11.12.1439. Hum Mol Genet. 2002. PMID: 12023986

3

Spinal muscular atrophy: recent advances and future prospects.

Nicole S, Diaz CC, Frugier T, Melki J. Nicole S, et al. Muscle Nerve. 2002 Jul;26(1):4-13. doi: 10.1002/mus.10110. Muscle Nerve. 2002. PMID: 12115944 Review.

4

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

Nicole S, Desforges B, Millet G, Lesbordes J, Cifuentes-Diaz C, Vertes D, Cao ML, De Backer F, Languille L, Roblot N, Joshi V, Gillis JM, Melki J. Nicole S, et al. J Cell Biol. 2003 May 12;161(3):571-82. doi: 10.1083/jcb.200210117. J Cell Biol. 2003. PMID: 12743106 Free PMC article.

5

Congenital myasthenic syndromes: an update.

Hantaï D, Nicole S, Eymard B. Hantaï D, et al. Among authors: nicole s. Curr Opin Neurol. 2013 Oct;26(5):561-8. doi: 10.1097/WCO.0b013e328364dc0f. Curr Opin Neurol. 2013. PMID: 23995276 Review.

6

The human CDC42 gene: genomic organization, evidence for the existence of a putative pseudogene and exclusion as a SJS1 candidate gene.

Nicole S, White PS, Topaloglu H, Beigthon P, Salih M, Hentati F, Fontaine B. Nicole S, et al. Hum Genet. 1999 Jul-Aug;105(1-2):98-103. doi: 10.1007/s004399900065. Hum Genet. 1999. PMID: 10480361

7

Schwartz-Jampel syndrome and perlecan deficiency.

Stum M, Davoine CS, Fontaine B, Nicole S. Stum M, et al. Among authors: nicole s. Acta Myol. 2005 Oct;24(2):89-92. Acta Myol. 2005. PMID: 16550923 Review.

8

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida CB, Hammouda H, Cruaud C, White PS, Samson D, Urtizberea JA, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B. Nicole S, et al. Nat Genet. 2000 Dec;26(4):480-3. doi: 10.1038/82638. Nat Genet. 2000. PMID: 11101850

9

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Stum M, Davoine CS, Vicart S, Guillot-Noël L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Stum M, et al. Among authors: nicole s. Hum Mutat. 2006 Nov;27(11):1082-91. doi: 10.1002/humu.20388. Hum Mutat. 2006. PMID: 16927315

10

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval.

Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F. Fontaine B, et al. Among authors: nicole s. Hum Genet. 1996 Sep;98(3):380-5. doi: 10.1007/s004390050225. Hum Genet. 1996. PMID: 8707312

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