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Page 1
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N. Krahn M, et al. Among authors: eymard b. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. Hum Mutat. 2009. PMID: 18853459
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C, et al. Plassart E, et al. Among authors: eymard b. Eur J Hum Genet. 1994;2(2):110-24. doi: 10.1159/000472351. Eur J Hum Genet. 1994. PMID: 8044656
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.
Eymard B, Romero NB, Leturcq F, Piccolo F, Carrié A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Thémar-Noël C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tomé FM, Fardeau M. Eymard B, et al. Neurology. 1997 May;48(5):1227-34. doi: 10.1212/wnl.48.5.1227. Neurology. 1997. PMID: 9153448
Calpainopathy-a survey of mutations and polymorphisms.
Richard I, Roudaut C, Saenz A, Pogue R, Grimbergen JE, Anderson LV, Beley C, Cobo AM, de Diego C, Eymard B, Gallano P, Ginjaar HB, Lasa A, Pollitt C, Topaloglu H, Urtizberea JA, de Visser M, van der Kooi A, Bushby K, Bakker E, Lopez de Munain A, Fardeau M, Beckmann JS. Richard I, et al. Among authors: eymard b. Am J Hum Genet. 1999 Jun;64(6):1524-40. doi: 10.1086/302426. Am J Hum Genet. 1999. PMID: 10330340 Free PMC article.
[Miyoshi distal myopathy: specific signs and incidence].
Eymard B, Laforêt P, Tomé FM, Collin H, Leroy JP, Hauw JJ, Richard I, Beckmann J, Fardeau M. Eymard B, et al. Rev Neurol (Paris). 2000 Feb;156(2):161-8. Rev Neurol (Paris). 2000. PMID: 10743015 French.
415 results