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Journal of Medical Genetics|August 21, 2020
Pathogenic variants in <i>IMPG1</i> cause autosomal dominant and autosomal recessive retinitis pigmentosaGuillaume Olivier, Marta Corton, Daniela Intartaglia, et al.Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.Molecular Genetics and Metabolism Reports|June 16, 2025
Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity ScaleEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.Molecular Genetics and Metabolism|August 5, 2023
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute managementCamille Wicker, Charles-Joris Roux, Louise Goujon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathiesStéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2020
Clinical phenotypes of infantile onset CACNA1A-related disorderTamar Gur-Hartman, Oren Berkowitz, Keren Yosovich, et al.Neurology|October 15, 2021
Hemiplegic Migraine Associated With <i>PRRT2</i> Variations: A Clinical and Genetic StudyFlorence Riant, Caroline Roos, Agathe Roubertie, et al.Human Mutation|June 5, 2010
Type I hyperprolinemia: genotype/phenotype correlationsAudrey Guilmatre, Solenn Legallic, Gary Steel, et al.Movement Disorders Clinical Practice|May 19, 2023
Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase DeficiencyMarie-Céline François-Heude, Gaetan Poulen, Emmanuel Flamand Roze, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 2, 2026
Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French CohortClément Dunoyer, Gaëtan Poulen, Marie-Céline François-Heude, et al.Pageof 14