Anne Moncla

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Valérie Belin, Véronica Cusin, Géraldine Viot et al. · Nature Genetics · 1998 · 356 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

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

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Philippe Jay, Claire Rougeulle, Annick Massacrier et al. · Nature Genetics · 1997 · 245 citations

Developmental Biology, Genetic Disorder, Medicine +8

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

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix et al. · European Journal of Human Genetics · 2010 · 140 citations · Full text

Severe Neurological Phenotype, Genetic Disorder, Genetics +6