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Page 1
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M. Anheim M, et al. Among authors: pouget j. Brain. 2009 Oct;132(Pt 10):2688-98. doi: 10.1093/brain/awp211. Epub 2009 Aug 20. Brain. 2009. PMID: 19696032
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.
Richard P, Gaudon K, Haddad H, Ammar AB, Genin E, Bauché S, Paturneau-Jouas M, Müller JS, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D. Richard P, et al. Among authors: pouget j. Neurology. 2008 Dec 9;71(24):1967-72. doi: 10.1212/01.wnl.0000336921.51639.0b. Neurology. 2008. PMID: 19064877
[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: pouget j. 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.
SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
Hanash A, Leguern E, Birouk N, Clermont O, Pouget J, Bouche P, Munnich A, Brice A, Melki J. Hanash A, et al. Among authors: pouget j. J Med Genet. 1997 Jun;34(6):507-8. doi: 10.1136/jmg.34.6.507. J Med Genet. 1997. PMID: 9192274 Free PMC article.
Dehydroepiandrosterone for myotonic dystrophy type 1.
Pénisson-Besnier I, Devillers M, Porcher R, Orlikowski D, Doppler V, Desnuelle C, Ferrer X, Bes MC, Bouhour F, Tranchant C, Lagrange E, Vershueren A, Uzenot D, Cintas P, Solé G, Hogrel JY, Laforêt P, Vial C, Vila AL, Sacconi S, Pouget J, Eymard B, Chevret S, Annane D. Pénisson-Besnier I, et al. Among authors: pouget j. Neurology. 2008 Aug 5;71(6):407-12. doi: 10.1212/01.wnl.0000324257.35759.40. Neurology. 2008. PMID: 18678823 Clinical Trial.
Visual control of locomotion in Parkinson's disease.
Azulay JP, Mesure S, Amblard B, Blin O, Sangla I, Pouget J. Azulay JP, et al. Among authors: pouget j. Brain. 1999 Jan;122 ( Pt 1):111-20. doi: 10.1093/brain/122.1.111. Brain. 1999. PMID: 10050899
605 results