Laforêt P - Search Results

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: laforet p. Hum Mutat. 2009 Feb;30(2):E345-75. doi: 10.1002/humu.20910. Hum Mutat. 2009. PMID: 18853459

2

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency.

Wary C, Laforêt P, Eymard B, Fardeau M, Leroy-Willig A, Bassez G, Leroy JP, Caillaud C, Poenaru L, Carlier PG. Wary C, et al. Among authors: laforet p. Neuromuscul Disord. 2003 Sep;13(7-8):545-53. doi: 10.1016/s0960-8966(03)00069-5. Neuromuscul Disord. 2003. PMID: 12921791

3

Clinical study of chronic pain in hereditary myopathies.

Delorme T, Boureau F, Eymard B, Laforet P, Cottrel F. Delorme T, et al. Among authors: laforet p. Eur J Pain. 2004 Feb;8(1):55-61. doi: 10.1016/S1090-3801(03)00076-4. Eur J Pain. 2004. PMID: 14690675

4

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: laforet p. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.

5

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Fischer D, Herasse M, Bitoun M, Barragán-Campos HM, Chiras J, Laforêt P, Fardeau M, Eymard B, Guicheney P, Romero NB. Fischer D, et al. Among authors: laforet p. Brain. 2006 Jun;129(Pt 6):1463-9. doi: 10.1093/brain/awl071. Epub 2006 Apr 3. Brain. 2006. PMID: 16585051

6

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P. Goudeau B, et al. Among authors: laforet p. Hum Mutat. 2006 Sep;27(9):906-13. doi: 10.1002/humu.20351. Hum Mutat. 2006. PMID: 16865695

7

Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy.

Coiffier L, Périé S, Laforêt P, Eymard B, St Guily JL. Coiffier L, et al. Among authors: laforet p. Otolaryngol Head Neck Surg. 2006 Aug;135(2):218-22. doi: 10.1016/j.otohns.2006.03.015. Otolaryngol Head Neck Surg. 2006. PMID: 16890071

8

Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

Auré K, Ogier de Baulny H, Laforêt P, Jardel C, Eymard B, Lombès A. Auré K, et al. Among authors: laforet p. Brain. 2007 Jun;130(Pt 6):1516-24. doi: 10.1093/brain/awm067. Epub 2007 Apr 17. Brain. 2007. PMID: 17439982

9

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.

Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Lévy N, Eymard B. Nguyen K, et al. Among authors: laforet p. Arch Neurol. 2007 Aug;64(8):1176-82. doi: 10.1001/archneur.64.8.1176. Arch Neurol. 2007. PMID: 17698709

10

Left ventricular non-compaction in a patient with myotonic dystrophy type 2.

Wahbi K, Meune C, Bassez G, Laforêt P, Vignaux O, Marmursztejn J, Bécane HM, Eymard B, Duboc D. Wahbi K, et al. Among authors: laforet p. Neuromuscul Disord. 2008 Apr;18(4):331-3. doi: 10.1016/j.nmd.2007.11.012. Neuromuscul Disord. 2008. PMID: 18395448

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