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Neurobiology of Disease|October 19, 2010
Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouseNicolas Panayotis, Michel Pratte, Ana Borges-Correia, et al.
American Journal of Medical Genetics. Part A|March 19, 2011
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?Aimé Ravel, Eliane Chouery, Samantha Stora, et al.
Plos One|March 27, 2014
GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient miceRita El-Khoury, Nicolas Panayotis, Valérie Matagne, et al.
Neurobiology of Disease|December 1, 2011
Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathwayJean-Christophe Roux, Diana Zala, Nicolas Panayotis, et al.
European Journal of Human Genetics : EJHG|June 4, 2020
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyriaBilal El Waly, Cécile Mignon-Ravix, Pierre Cacciagli, et al.
Biochemical and Biophysical Research Communications|December 29, 2005
Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolismVéronique Saywell, Angèle Viola, Sylviane Confort-Gouny, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 17, 2017
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegenerationNathalie Villeneuve, Affef Abidi, Pierre Cacciagli, et al.
Orphanet Journal of Rare Diseases|July 18, 2021
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinityMarwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, et al.
Epilepsia Open|August 30, 2025
Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRIThibault Beretti, William Rozalen, Laurent Villard, et al.
Neurobiology of Disease|December 16, 2016
A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndromeValerie Matagne, Yann Ehinger, Lydia Saidi, et al.
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