Fontaine B - Search Results

1

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

2

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.

Hansen JJ, Dürr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P. Hansen JJ, et al. Among authors: fontaine b. Am J Hum Genet. 2002 May;70(5):1328-32. doi: 10.1086/339935. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898127 Free PMC article.

3

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.

4

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.

5

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N, Scheffer D, Huber C, Al-Gazali LI, Di Rocco M, Godard A, Martinovic J, Raas-Rothschild A, Sigaudy S, Unger S, Nicole S, Fontaine B, Taupin JL, Moreau JF, Superti-Furga A, Le Merrer M, Bonaventure J, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Among authors: fontaine b. Am J Hum Genet. 2004 Feb;74(2):298-305. doi: 10.1086/381715. Epub 2004 Jan 21. Am J Hum Genet. 2004. PMID: 14740318 Free PMC article.

6

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.

7

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.

8

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.

Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Among authors: fontaine b. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752

9

Glucocorticoids may trigger attacks in several types of periodic paralysis.

Arzel-Hézode M, McGoey S, Sternberg D, Vicart S, Eymard B, Fontaine B. Arzel-Hézode M, et al. Among authors: fontaine b. Neuromuscul Disord. 2009 Mar;19(3):217-9. doi: 10.1016/j.nmd.2008.12.008. Epub 2009 Feb 7. Neuromuscul Disord. 2009. PMID: 19201608

10

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

Echaniz-Laguna A, Rene F, Marcel C, Bangratz M, Fontaine B, Loeffler JP, Nicole S. Echaniz-Laguna A, et al. Among authors: fontaine b. Muscle Nerve. 2009 Jul;40(1):55-61. doi: 10.1002/mus.21253. Muscle Nerve. 2009. PMID: 19367640

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