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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 13, 2020
Normal intellectual skills in patients with RhombencephalosynapsisMarie-France Bonnetain, Christelle Rougeot-Jung, Catherine Sarret, et al.
Science Translational Medicine|January 15, 2016
Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trialsElizabeth Berry-Kravis, Vincent Des Portes, Randi Hagerman, et al.
Orphanet Journal of Rare Diseases|September 11, 2014
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trialLaurence Lion-François, François Gueyffier, Catherine Mercier, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 26, 2021
SCN1A-related epilepsy with recessive inheritance: Two further familiesRaffaella Moretti, Lionel Arnaud, Delphine Bouteiller, et al.
Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutationGaetan Lesca, Marie-Pierre Moizard, Gerald Bussy, et al.
Epilepsia|September 21, 2023
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanismsLotten Ragnarsson, Zihan Zhang, Sooraj S Das, et al.
Stem Cell Research|April 10, 2026
Generation of six hiPSC lines from patients with WDR45-related neurodegenerative disease (Beta-propeller Protein-Associated Neurodegeneration, BPAN)Johana Tournois, Laure Chatrousse, Karine Giraud-Triboult, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 27, 2017
Outcome of isolated agenesis of the corpus callosum: A population-based prospective studyVincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, et al.
The Journal of Clinical Endocrinology and Metabolism|March 11, 2026
Circulating levels of ghrelin and hyperphagia in patients with rare genetic neurodevelopmental disordersGwenaëlle Diene, Grégoire Benvegnu, Cathy Brochado, et al.
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