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Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Stojkovic T, Masingue M, Turmel H, Hezode-Arzel M, Béhin A, Leonard-Louis S, Bassez G, Bauché S, Blondy P, Richard P, Sternberg D, Eymard B, Fournier E, Villar-Quiles RN. Stojkovic T, et al. Among authors: blondy p. Neuromuscul Disord. 2022 Dec;32(11-12):870-878. doi: 10.1016/j.nmd.2022.10.001. Epub 2022 Oct 9. Neuromuscul Disord. 2022. PMID: 36522822
Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings.
Gómez-García de la Banda M, Simental-Aldaba E, Fahmy N, Sternberg D, Blondy P, Quijano-Roy S, Malfatti E. Gómez-García de la Banda M, et al. Among authors: blondy p. Front Neurol. 2022 Jun 2;13:909715. doi: 10.3389/fneur.2022.909715. eCollection 2022. Front Neurol. 2022. PMID: 35720108 Free PMC article.
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: blondy p. Eur J Neurol. 2022 Aug;29(8):2398-2411. doi: 10.1111/ene.15369. Epub 2022 May 4. Eur J Neurol. 2022. PMID: 35460302
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: blondy p. 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
17 results