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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 3, 2025
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohortLorenzo Menicucci, Moussa Mane, Agathe Roubertie, et al.Annals of Clinical and Translational Neurology|August 13, 2019
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!Agathe Roubertie, Majida Charif, Pierre Meyer, et al.Medcomm|May 8, 2025
Novel Mutation at Cys225 in <i>GNAO1</i>-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case StudiesYonika A Larasati, Gonzalo P Solis, Alexey Koval, et al.Mitochondrion|May 23, 2021
Optic neuropathy linked to ACAD9 pathogenic variants: A potentially riboflavin-responsive disorder?Naig Gueguen, Julie Piarroux, Emmanuelle Sarzi, et al.Annals of Clinical and Translational Neurology|July 26, 2023
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!Heidy Baide-Mairena, Arthur Coget, Nicolas Leboucq, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|August 19, 2010
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndromeJacques Rochette, Patrice Roll, Ying-Hui Fu, et al.Genes|September 23, 2022
SPACR Encoded by <i>IMPG1</i> Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment EpitheliumGuillaume Olivier, Philippe Brabet, Nelly Pirot, et al.Journal of Inherited Metabolic Disease|October 23, 2021
Fructose-1,6-bisphosphatase deficiency causes fatty liver disease and requires long-term hepatic follow-upMagali Gorce, Elise Lebigot, Alina Arion, et al.Movement Disorders Clinical Practice|July 21, 2023
Non-Motor Symptoms and Quality of Life in Patients with PRRT2-Related Paroxysmal Kinesigenic DyskinesiaAsya Ekmen, Mohamed Doulazmi, Aurélie Méneret, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 15, 2010
Speech disturbances in patients with dystonia or chorea due to neurometabolic disordersConstance Flamand-Rouvière, Emilie Guettard, Caroline Moreau, et al.Pageof 14