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Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B. Furby A, et al. Among authors: fontaine b. Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2. Neuromuscul Disord. 2014. PMID: 25088311
Human skeletal muscle sodium channelopathies.
Vicart S, Sternberg D, Fontaine B, Meola G. Vicart S, et al. Among authors: fontaine b. Neurol Sci. 2005 Oct;26(4):194-202. doi: 10.1007/s10072-005-0461-x. Neurol Sci. 2005. PMID: 16193245 Review.
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators. Matthews E, et al. Among authors: fontaine b. Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Brain. 2010. PMID: 19917643 Free PMC article. Review.
474 results