Echenne B - Search Results

1

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. Tuffery S, et al. Among authors: echenne b. Hum Genet. 1998 Mar;102(3):334-42. doi: 10.1007/s004390050702. Hum Genet. 1998. PMID: 9544849

2

Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.

Chevron MP, Tuffery S, Echenne B, Demaille J, Claustres M. Chevron MP, et al. Among authors: echenne b. Neuromuscul Disord. 1992;2(1):47-50. doi: 10.1016/0960-8966(92)90026-3. Neuromuscul Disord. 1992. PMID: 1525558

3

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.

Claustres M, Tuffery S, Chevron MP, Jozelon MP, Martinez P, Echenne B, Demaille J. Claustres M, et al. Among authors: echenne b. Hum Genet. 1991 Dec;88(2):179-84. doi: 10.1007/BF00206068. Hum Genet. 1991. PMID: 1684565

4

Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy.

Rivier F, Tuffery S, Jellali AJ, Echenne B, Mornet D, Pons F. Rivier F, et al. Among authors: echenne b. Muscle Nerve. 1998 Oct;21(10):1317-20. doi: 10.1002/(sici)1097-4598(199810)21:10<1317::aid-mus11>3.0.co;2-z. Muscle Nerve. 1998. PMID: 9736061

5

Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results.

Coubes P, Cif L, El Fertit H, Hemm S, Vayssiere N, Serrat S, Picot MC, Tuffery S, Claustres M, Echenne B, Frerebeau P. Coubes P, et al. Among authors: echenne b. J Neurosurg. 2004 Aug;101(2):189-94. doi: 10.3171/jns.2004.101.2.0189. J Neurosurg. 2004. PMID: 15309907

6

Absence of dystrophin and utrophin in a boy with severe muscular dystrophy.

Chevron MP, Echenne B, Demaille J. Chevron MP, et al. Among authors: echenne b. N Engl J Med. 1994 Oct 27;331(17):1162-3. doi: 10.1056/NEJM199410273311716. N Engl J Med. 1994. PMID: 7935651 No abstract available.

7

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

Humbertclaude V, Hamroun D, Picot MC, Bezzou K, Bérard C, Boespflug-Tanguy O, Bommelaer C, Campana-Salort E, Cances C, Chabrol B, Commare MC, Cuisset JM, de Lattre C, Desnuelle C, Echenne B, Halbert C, Jonquet O, Labarre-Vila A, N'guyen-Morel MA, Pages M, Pepin JL, Petitjean T, Pouget J, Ollagnon-Roman E, Richelme C, Rivier F, Sacconi S, Tiffreau V, Vuillerot C, Béroud C, Tuffery-Giraud S, Claustres M. Humbertclaude V, et al. Among authors: echenne b. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):583-94. doi: 10.1016/j.neurol.2013.04.004. Epub 2013 Aug 14. Rev Neurol (Paris). 2013. PMID: 23954141 French.

8

[Treatment of early-onset generalized dystonia by chronic bilateral stimulation of the internal globus pallidus. Apropos of a case].

Coubes P, Echenne B, Roubertie A, Vayssière N, Tuffery S, Humbertclaude V, Cambonie G, Claustres M, Frerebeau P. Coubes P, et al. Among authors: echenne b. Neurochirurgie. 1999 May;45(2):139-44. Neurochirurgie. 1999. PMID: 10448655 French.

9

[The varied etiologies of childhood-onset dystonia].

Roubertie A, Rivier F, Humbertclaude V, Tuffery S, Cavalier L, Cheminal R, Coubes P, Echenne B. Roubertie A, et al. Among authors: echenne b. Rev Neurol (Paris). 2002 Apr;158(4):413-24. Rev Neurol (Paris). 2002. PMID: 11984483 Review. French.

10

doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).

des Portes V, Francis F, Pinard JM, Desguerre I, Moutard ML, Snoeck I, Meiners LC, Capron F, Cusmai R, Ricci S, Motte J, Echenne B, Ponsot G, Dulac O, Chelly J, Beldjord C. des Portes V, et al. Among authors: echenne b. Hum Mol Genet. 1998 Jul;7(7):1063-70. doi: 10.1093/hmg/7.7.1063. Hum Mol Genet. 1998. PMID: 9618162

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