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Human Molecular Genetics|December 21, 2023
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disabilityElham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, et al.Journal of Medical Genetics|February 27, 2023
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotypeMario Abaji, Cécile Mignon-Ravix, Svetlana Gorokhova, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 13, 2013
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature reviewIbrahim Tanyalçin, Helene Verhelst, Dicky J J Halley, et al.Human Mutation|April 18, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burstCécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, et al.American Journal of Medical Genetics. Part A|April 6, 2011
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndromeAndré Mégarbané, Eliane Chouery, Cécile Mignon-Ravix, et al.European Journal of Human Genetics : EJHG|June 13, 2013
AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)Pierre Cacciagli, Jean-Pierre Desvignes, Nadine Girard, et al.Human Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.Pharmaceutics|August 28, 2021
Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in MiceMarie-Solenne Felix, Emilie Borloz, Khaled Metwally, et al.Experimental Neurology|July 10, 2026
Cellular, electrophysiological and behavioral improvements in a mouse model of Rett syndrome following gene therapy combined with focused ultrasound-mediated blood-brain barrier openingMarie-Solenne Felix, Léna Bourcin, Emilie Borloz, et al.Human Mutation|August 7, 2007
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotypeAnne Moncla, Chantal Missirian, Pierre Cacciagli, et al.Pageof 12