Josette Mancini

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek et al. · PEDIATRICS · 1993 · 290 citations

Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

Jean‐Charles Viemari, Jean‐Christophe Roux, Andrew K. Tryba et al. · Journal of Neuroscience · 2005 · 281 citations · Full text

Mecp2-/y Mice, Neurodegenerative Diseases, Molecular Physiology +14

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

Jean‐Christophe Roux, Emmanuelle Dura, Anne Moncla et al. · European Journal of Neuroscience · 2007 · 140 citations

Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood

Laurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy et al. · The Journal of Pediatrics · 2010 · 106 citations

Age-dependent Mendelian Predisposition, Pathogenesis, Virology +3

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Anne Moncla, Perrine Malzac, Marie-Odile Livet et al. · Journal of Medical Genetics · 1999 · 101 citations · Full text

Developmental Anomaly, Clinical Disorders, Mendelian Disorder +15