Sternberg D - Search Results

1

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

Gay S, Dupuis D, Faivre L, Masurel-Paulet A, Labenne M, Colombani M, Soichot P, Huet F, Hainque B, Sternberg D, Fontaine B, Gouyon JB, Thauvin-Robinet C. Gay S, et al. Among authors: sternberg d. Am J Med Genet A. 2008 Feb 1;146A(3):380-3. doi: 10.1002/ajmg.a.32141. Am J Med Genet A. 2008. PMID: 18203179

2

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. Brain. 2001 Jun;124(Pt 6):1091-9. doi: 10.1093/brain/124.6.1091. Brain. 2001. PMID: 11353725

3

Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

Sternberg D, Tabti N, Fournier E, Hainque B, Fontaine B. Sternberg D, et al. Neurology. 2003 Sep 23;61(6):857-9. doi: 10.1212/01.wnl.0000082392.66713.e3. Neurology. 2003. PMID: 14504341

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: sternberg d. 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

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: sternberg d. Ann Neurol. 2004 Nov;56(5):650-61. doi: 10.1002/ana.20241. Ann Neurol. 2004. PMID: 15389891 Clinical Trial.

6

New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.

Vicart S, Sternberg D, Fournier E, Ochsner F, Laforet P, Kuntzer T, Eymard B, Hainque B, Fontaine B. Vicart S, et al. Among authors: sternberg d. Neurology. 2004 Dec 14;63(11):2120-7. doi: 10.1212/01.wnl.0000145768.09934.ec. Neurology. 2004. PMID: 15596759

7

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: sternberg d. 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.

8

Human skeletal muscle sodium channelopathies.

Vicart S, Sternberg D, Fontaine B, Meola G. Vicart S, et al. Among authors: sternberg d. Neurol Sci. 2005 Oct;26(4):194-202. doi: 10.1007/s10072-005-0461-x. Neurol Sci. 2005. PMID: 16193245 Review.

9

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.

Ferriby D, Stojkovic T, Sternberg D, Hurtevent JF, Hurtevent JP, Vermersch P. Ferriby D, et al. Among authors: sternberg d. Neuromuscul Disord. 2006 May;16(5):321-4. doi: 10.1016/j.nmd.2006.01.015. Epub 2006 Apr 19. Neuromuscul Disord. 2006. PMID: 16624558

10

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: sternberg d. Ann Neurol. 2006 Sep;60(3):356-65. doi: 10.1002/ana.20905. Ann Neurol. 2006. PMID: 16786525

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