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Epilepsia|October 29, 2004
Topiramate pharmacokinetics in children with epilepsy aged from 6 months to 4 yearsYann Mikaeloff, Elisabeth Rey, Christine Soufflet, et al.Journal of Neurosurgery|August 18, 2004
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term resultsPhilippe Coubes, Laura Cif, Hassan El Fertit, et al.Pediatric Neurology|August 12, 2009
Neurologic aspects of MECP2 gene duplication in male patientsBernard Echenne, Agathe Roubertie, Dorien Lugtenberg, et al.Neurology|December 15, 2015
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysisKarima Habbout, Hugo Poulin, François Rivier, et al.European Journal of Human Genetics : EJHG|February 24, 2006
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effectMireille Cossée, Bénédicte Demeer, Patricia Blanchet, et al.Neurology. Genetics|February 24, 2018
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?Agathe Roubertie, Nelson Hieu, Charles-Joris Roux, et al.American Journal of Human Genetics|November 25, 2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 18, 2015
Severe phenotypic spectrum of biallelic mutations in PRRT2 geneMarion Delcourt, Florence Riant, Josette Mancini, et al.Neuromuscular Disorders : NMD|September 8, 2004
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centreSylvie Tuffery-Giraud, Céline Saquet, Sylvie Chambert, et al.Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.Pageof 5