Fardeau M - Search Results

1

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: fardeau m. J Neurol Sci. 1996 Oct;142(1-2):126-33. doi: 10.1016/0022-510x(96)00173-6. J Neurol Sci. 1996. PMID: 8902732

2

Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance.

Plassart-Schiess E, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B. Plassart-Schiess E, et al. Among authors: fardeau m. Neurology. 1998 Apr;50(4):1176-9. doi: 10.1212/wnl.50.4.1176. Neurology. 1998. PMID: 9566422

3

Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies.

Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, Eymard B, Fardeau M, Ponsot G, Paturneau-Jouas M, et al. Degoul F, et al. Among authors: fardeau m. J Neurol Sci. 1991 Feb;101(2):168-77. doi: 10.1016/0022-510x(91)90042-6. J Neurol Sci. 1991. PMID: 1851820

4

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).

Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulié J, Guicheney P. Donger C, et al. Among authors: fardeau m. Am J Hum Genet. 1998 Oct;63(4):967-75. doi: 10.1086/302059. Am J Hum Genet. 1998. PMID: 9758617 Free PMC article.

5

Immunocytological and histochemical correlation in Kearns-Sayre syndrome with mtDNA deletion and partial cytochrome c oxidase deficiency in skeletal muscle.

Romero NB, Lestienne P, Marsac C, Paturneau-Jouas M, Nelson I, François D, Eymard B, Fardeau M. Romero NB, et al. Among authors: fardeau m. J Neurol Sci. 1989 Nov;93(2-3):297-309. doi: 10.1016/0022-510x(89)90199-8. J Neurol Sci. 1989. PMID: 2556504

6

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. Neuromuscul Disord. 1996 Dec;6(6):447-53. doi: 10.1016/s0960-8966(96)00387-2. Neuromuscul Disord. 1996. PMID: 9027854

7

[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. Among authors: fardeau m. Rev Neurol (Paris). 2000 Feb;156(2):161-8. Rev Neurol (Paris). 2000. PMID: 10743015 French.

8

High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation.

Bécane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. Bécane HM, et al. Among authors: fardeau m. Pacing Clin Electrophysiol. 2000 Nov;23(11 Pt 1):1661-6. doi: 10.1046/j.1460-9592.2000.01661.x. Pacing Clin Electrophysiol. 2000. PMID: 11138304

9

["MELAS" (A3243G) mutation of mitochondrial DNA: a study of the relationships between the clinical phenotype in 19 patients and morphological and molecular data].

Laforêt P, Ziegler F, Sternberg D, Rouche A, Frachon P, Fardeau M, Eymard B, Lombès A. Laforêt P, et al. Among authors: fardeau m. Rev Neurol (Paris). 2000 Dec;156(12):1136-47. Rev Neurol (Paris). 2000. PMID: 11139730 French.

10

A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.

Bitoun M, Bevilacqua JA, Eymard B, Prudhon B, Fardeau M, Guicheney P, Romero NB. Bitoun M, et al. Among authors: fardeau m. Neurology. 2009 Jan 6;72(1):93-5. doi: 10.1212/01.wnl.0000338624.25852.12. Neurology. 2009. PMID: 19122038 No abstract available.

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