Neuropediatric Unit Pediatric Universitary Hospital La Timone
FRANCE
Department of Neuropediatrics, Universitary Hospital La Timone Marseille.
Doctor of medicine (1978)
Present position: honorary Professor at the Aix Marseille University
Full Professor since 1996
Head Pediatric Neurologist from 1998 to 2009 in Timone Children University Hospital Center
Member of the medical and scientific council of the French association for Rett syndrome (AFSR) since its beginning
Involved in the research in Rett syndrome in association with the team of Laurent Villard
Specially implied in the clinical trial with desipramine in breathing disorders
PUBLICATIONS:
Rett syndrome: revised diagnostic criteria and nomenclature. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.
Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome.Roux JC, Dura E, Moncla A, Mancini J, Villard L. Eur J Neurosci. 2007 Apr;25(7):1915-22.
The incidence of Rett syndrome in France. Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L. Pediatr Neurol. 2006 May;34(5):372-5.
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T. Eur J Med Genet. 2006 Jan-Feb;49(1):9-18.
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. Viemari JC, Roux JC, Tryba AK, Saywell V, Burnet H, Peña F, Zanella S, Bévengut M, Barthelemy-Requin M, Herzing LB, Moncla A, Mancini J, Ramirez JM, Villard L, Hilaire G. J Neurosci. 2005 Dec 14;25(50):11521-30.