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Heliyon|February 7, 2025
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C typeEtienne Mondesert, Bastien Baud, Agathe Roubertie, et al.Annales De Biologie Clinique|July 8, 2020
[Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report]Etienne Mondesert, Agathe Roubertie, Mathilde Girard, et al.Developmental Medicine and Child Neurology|January 24, 2024
Efficacy of intravenous clonazepam for paediatric convulsive status epilepticusMaxime Colmard, François Rivier, Gaëlle de Barry, et al.Movement Disorders Clinical Practice|December 2, 2024
KCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical ReappraisalEmmanuel Roze, Laura Silveira-Moriyama, Smaranda Leu-Semenescu, et al.Journal of Neurology, Neurosurgery, and Psychiatry|October 22, 2020
Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologiesChristophe Carreau, Charline Benoit, Guido Ahle, et al.Ophthalmology|July 11, 2016
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical SeverityJoanna Grenier, Isabelle Meunier, Vincent Daien, et al.EMBO Molecular Medicine|August 23, 2021
Gene therapy in the putamen for curing AADC deficiency and Parkinson's diseasePaul Wuh-Liang Hwu, Karl Kiening, Irina Anselm, et al.Neuropediatrics|January 28, 2021
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) DeficiencyMarie-Aude Spitz, Guy Lenaers, Majida Charif, et al.Prenatal Diagnosis|December 6, 2023
Postnatal outcome of children with antenatal colonic hyperechogenicityFlorent Fuchs, Alexis Rodriguez, Eve Mousty, et al.Pediatric Neurology|August 12, 2009
Neurologic aspects of MECP2 gene duplication in male patientsBernard Echenne, Agathe Roubertie, Dorien Lugtenberg, et al.Pageof 14