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Journal of Clinical Medicine|December 11, 2019
Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor ImprovementAnnika Danielsson, Miryam Carecchio, Laura Cif, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2008
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patientsCyril Gitiaux, Emmanuel Roze, Kiyoka Kinugawa, et al.Journal of the Neurological Sciences|February 3, 2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunctionAgathe Roubertie, Nicolas Leboucq, Marie Christine Picot, et al.Epilepsia|April 24, 2016
Anti-tumor necrosis factor alpha therapy (adalimumab) in Rasmussen's encephalitis: An open pilot studyStanislas Lagarde, Nathalie Villeneuve, Agnès Trébuchon, et al.Journal of Inherited Metabolic Disease|July 4, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-upAgathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, et al.Human Molecular Genetics|September 11, 2010
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKarine Poirier, Yoann Saillour, Nadia Bahi-Buisson, et al.Orphanet Journal of Rare Diseases|April 27, 2025
Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature reviewDidier Bessis, Dominique Vidaud, Pierre Meyer, et al.Journal of Clinical Medicine|July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label TrialBridget E Bax, Michelle Levene, Murray D Bain, et al.Molecular Genetics and Metabolism|August 14, 2025
Childhood POLG-related disorders: Focus on polyradiculoneuropathyClaire-Marine Bérat, Marie Hully, Agnès Rötig, et al.Frontiers in Neurology|June 21, 2024
Dyskinetic crisis in <i>GNAO1</i>-related disorders: clinical perspectives and management strategiesJana Domínguez Carral, Carola Reinhard, Darius Ebrahimi-Fakhari, et al.Pageof 14