Fontaine B - 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: fontaine b. Sci Rep. 2018 Feb 1;8(1):2041. doi: 10.1038/s41598-018-20468-0. Sci Rep. 2018. PMID: 29391559 Free PMC article.

2

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. Among authors: fontaine b. Neuromuscul Disord. 2003 May;13(4):347-51. doi: 10.1016/s0960-8966(02)00272-9. Neuromuscul Disord. 2003. PMID: 12868505 No abstract available.

3

Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.

Bouhours M, Sternberg D, Davoine CS, Ferrer X, Willer JC, Fontaine B, Tabti N. Bouhours M, et al. Among authors: fontaine b. J Physiol. 2004 Feb 1;554(Pt 3):635-47. doi: 10.1113/jphysiol.2003.053082. Epub 2003 Nov 14. J Physiol. 2004. PMID: 14617673 Free PMC article.

4

Electromyography guides toward subgroups of mutations in muscle channelopathies.

Fournier E, Arzel M, Sternberg D, Vicart S, Laforet P, Eymard B, Willer JC, Tabti N, Fontaine B. Fournier E, et al. Among authors: fontaine b. Ann Neurol. 2004 Nov;56(5):650-61. doi: 10.1002/ana.20241. Ann Neurol. 2004. PMID: 15389891 Clinical Trial.

5

A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

Bouhours M, Luce S, Sternberg D, Willer JC, Fontaine B, Tabti N. Bouhours M, et al. Among authors: fontaine b. J Physiol. 2005 Jun 1;565(Pt 2):415-27. doi: 10.1113/jphysiol.2004.081018. Epub 2005 Mar 24. J Physiol. 2005. PMID: 15790667 Free PMC article.

6

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Bendahhou S, Fournier E, Sternberg D, Bassez G, Furby A, Sereni C, Donaldson MR, Larroque MM, Fontaine B, Barhanin J. Bendahhou S, et al. Among authors: fontaine b. J Physiol. 2005 Jun 15;565(Pt 3):731-41. doi: 10.1113/jphysiol.2004.081620. Epub 2005 Apr 14. J Physiol. 2005. PMID: 15831539 Free PMC article.

7

Cold extends electromyography distinction between ion channel mutations causing myotonia.

Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hézode M, Laforêt P, Eymard B, Tabti N, Willer JC, Vial C, Fontaine B. Fournier E, et al. Among authors: fontaine b. Ann Neurol. 2006 Sep;60(3):356-65. doi: 10.1002/ana.20905. Ann Neurol. 2006. PMID: 16786525

8

Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.

Carle T, Lhuillier L, Luce S, Sternberg D, Devuyst O, Fontaine B, Tabti N. Carle T, et al. Among authors: fontaine b. Biochem Biophys Res Commun. 2006 Sep 22;348(2):653-61. doi: 10.1016/j.bbrc.2006.07.101. Epub 2006 Jul 28. Biochem Biophys Res Commun. 2006. PMID: 16890191

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: fontaine b. Hum Mutat. 2006 Nov;27(11):1082-91. doi: 10.1002/humu.20388. Hum Mutat. 2006. PMID: 16927315

10

Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.

Fontaine B, Fournier E, Sternberg D, Vicart S, Tabti N. Fontaine B, et al. Neurotherapeutics. 2007 Apr;4(2):225-32. doi: 10.1016/j.nurt.2007.01.002. Neurotherapeutics. 2007. PMID: 17395132 Free article. Review.

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