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European Journal of Medical Genetics|April 29, 2015
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literatureSolveig Heide, Alexandra Afenjar, Patrick Edery, et al.Journal of Inherited Metabolic Disease|January 14, 2011
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1Anne Roubergue, Emmanuelle Apartis, Valérie Mesnage, et al.Movement Disorders : Official Journal of the Movement Disorder Society|June 30, 2005
Dystonia and parkinsonism in GM1 type 3 gangliosidosisEmmanuel Roze, Eduard Paschke, Nathalie Lopez, et al.Annals of Clinical and Translational Neurology|August 20, 2021
Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8Diane Doummar, Marco Treven, Leila Qebibo, et al.Brain & Development|April 7, 2007
Early neurological phenotype in 4 children with biallelic PRODH mutationsAlexandra Afenjar, Marie-Laure Moutard, Diane Doummar, et al.Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|August 7, 2019
Sleep in ADCY5-Related Dyskinesia: Prolonged Awakenings Caused by Abnormal MovementsAurélie Méneret, Emmanuel Roze, Jean-Baptiste Maranci, et al.Parkinsonism & Related Disorders|February 5, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystoniaFloriane Quazza, Florence Riant, Martina Patera, et al.Frontiers in Neurology|June 15, 2026
Highlighting the value of polymyography in childhood onset movement disordersRaffaella Moretti, Claudia Ravelli, Yara Ahmar, et al.Frontiers in Pediatrics|March 22, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the LiteratureMarc Gibaud, Magalie Barth, Jérémie Lefranc, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 15, 2021
Tremor-like subcortical myoclonus in STXBP1 encephalopathyAnna Loussouarn, Diane Doummar, Yara Beaugendre, et al.Pageof 9