Eymard B - Search Results

1

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.

Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B. Ben Ammar A, et al. Among authors: eymard b. J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012313

2

[Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease].

Eymard B, Penicaud A, Leger JM, Romero N, Marsac C, Fardeau M, Brunet P. Eymard B, et al. Rev Neurol (Paris). 1991;147(6-7):508-12. Rev Neurol (Paris). 1991. PMID: 1660183 French.

3

Decreased cerebral glucose utilization in myotonic dystrophy.

Fiorelli M, Duboc D, Mazoyer BM, Blin J, Eymard B, Fardeau M, Samson Y. Fiorelli M, et al. Among authors: eymard b. Neurology. 1992 Jan;42(1):91-4. doi: 10.1212/wnl.42.1.91. Neurology. 1992. PMID: 1734329

4

Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients.

Laforêt P, Lombès A, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M. Laforêt P, et al. Among authors: eymard b. Neuromuscul Disord. 1995 Sep;5(5):399-413. doi: 10.1016/0960-8966(94)00080-s. Neuromuscul Disord. 1995. PMID: 7496174

5

X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers.

Villanova M, Louboutin JP, Chateau D, Eymard B, Sagniez M, Tomé FM, Fardeau M. Villanova M, et al. Among authors: eymard b. Ann Neurol. 1995 May;37(5):637-45. doi: 10.1002/ana.410370514. Ann Neurol. 1995. PMID: 7755359

6

A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.

Navon R, Khosravi R, Korczyn T, Masson M, Sonnino S, Fardeau M, Eymard B, Lefevre M, Turpin JC, Rondot P, et al. Navon R, et al. Among authors: eymard b. Neurology. 1995 Mar;45(3 Pt 1):539-43. doi: 10.1212/wnl.45.3.539. Neurology. 1995. PMID: 7898712

7

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Plassart E, Eymard B, Maurs L, Hauw JJ, Lyon-Caen O, Fardeau M, Fontaine B. Plassart E, et al. Among authors: eymard b. J Neurol Sci. 1996 Oct;142(1-2):126-33. doi: 10.1016/0022-510x(96)00173-6. J Neurol Sci. 1996. PMID: 8902732

8

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities.

Fardeau M, Eymard B, Mignard C, Tomé FM, Richard I, Beckmann JS. Fardeau M, et al. Among authors: eymard b. Neuromuscul Disord. 1996 Dec;6(6):447-53. doi: 10.1016/s0960-8966(96)00387-2. Neuromuscul Disord. 1996. PMID: 9027854

9

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

10

[Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies].

Laforêt P, Eymard B, Danan C, Chevallay M, Rouche A, Frachon P, Fardeau M, Lombès A. Laforêt P, et al. Among authors: eymard b. Rev Neurol (Paris). 1997 Feb;153(1):51-8. Rev Neurol (Paris). 1997. PMID: 9296156 French.

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