Fontaine B - Search Results

1

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.

2

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

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: fontaine b. 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

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: fontaine b. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002

5

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: fontaine b. Sci Rep. 2018 Nov 12;8(1):16681. doi: 10.1038/s41598-018-34750-8. Sci Rep. 2018. PMID: 30420713 Free PMC article.

6

Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.

Villar-Quiles RN, Sternberg D, Tredez G, Beatriz Romero N, Evangelista T, Lafôret P, Cintas P, Sole G, Sacconi S, Bendahhou S, Franques J, Cances C, Noury JB, Delmont E, Blondy P, Perrin L, Hezode M, Fournier E, Fontaine B, Stojkovic T, Vicart S. Villar-Quiles RN, et al. Among authors: fontaine b. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302

7

Homozygosity for dominant mutations increases severity of muscle channelopathies.

Arzel-Hézode M, Sternberg D, Tabti N, Vicart S, Goizet C, Eymard B, Fontaine B, Fournier E. Arzel-Hézode M, et al. Among authors: fontaine b. Muscle Nerve. 2010 Apr;41(4):470-7. doi: 10.1002/mus.21520. Muscle Nerve. 2010. PMID: 19882638

8

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A. Auré K, et al. Among authors: fontaine b. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23. Neurology. 2013. PMID: 24153443

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

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.

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