Nicole S - Search Results

1

Substitutions of the S4DIV R2 residue (R1451) in Na_V1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Poulin H, Gosselin-Badaroudine P, Vicart S, Habbout K, Sternberg D, Giuliano S, Fontaine B, Bendahhou S, Nicole S, Chahine M. Poulin H, et al. Among authors: nicole s. Sci Rep. 2018 Feb 1;8(1):2041. doi: 10.1038/s41598-018-20468-0. Sci Rep. 2018. PMID: 29391559 Free PMC article.

2

Skeletal muscle sodium channelopathies.

Nicole S, Fontaine B. Nicole S, et al. Curr Opin Neurol. 2015 Oct;28(5):508-14. doi: 10.1097/WCO.0000000000000238. Curr Opin Neurol. 2015. PMID: 26285000 Review.

3

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S. Habbout K, et al. Among authors: nicole s. Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11. Neurology. 2016. PMID: 26659129 Free PMC article.

4

A204E mutation in Na_v1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Kokunai Y, Dalle C, Vicart S, Sternberg D, Pouliot V, Bendahhou S, Fournier E, Chahine M, Fontaine B, Nicole S. Kokunai Y, et al. Among authors: nicole s. Sci Rep. 2018 Nov 12;8(1):16681. doi: 10.1038/s41598-018-34750-8. Sci Rep. 2018. PMID: 30420713 Free PMC article.

5

Diseases caused by voltage-gated ion channels.

Fontaine B, Plassart-Schiess E, Nicole S. Fontaine B, et al. Among authors: nicole s. Mol Aspects Med. 1997 Dec;18(6):415-63. doi: 10.1016/s0098-2997(97)00050-2. Mol Aspects Med. 1997. PMID: 9561513 Review.

6

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B. Sternberg D, et al. Among authors: nicole s. Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091. Brain. 2001. PMID: 11353725

7

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S. Kato H, et al. Among authors: nicole s. J Neurol Sci. 2016 Oct 15;369:254-258. doi: 10.1016/j.jns.2016.08.030. Epub 2016 Aug 13. J Neurol Sci. 2016. PMID: 27653901

8

102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands.

Nicole S, Topaloglu H, Fontaine B. Nicole S, et al. Neuromuscul Disord. 2003 May;13(4):347-51. doi: 10.1016/s0960-8966(02)00272-9. Neuromuscul Disord. 2003. PMID: 12868505 No abstract available.

9

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G, Sternberg D, Nicole S, Marionneau C, Le Bouffant F, Toumaniantz G, Barc J, Malak OA, Fressart V, Péréon Y, Baró I, Charpentier F. Loussouarn G, et al. Among authors: nicole s. Front Pharmacol. 2016 Jan 14;6:314. doi: 10.3389/fphar.2015.00314. eCollection 2015. Front Pharmacol. 2016. PMID: 26834636 Free PMC article. Review.

10

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.

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