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Neurology|March 4, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same timeEleni Panagiotakaki, Diane Doummar, Erika Nogue, et al.
Neurology|June 30, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret, David Grabli, Christel Depienne, et al.
European Journal of Human Genetics : EJHG|May 2, 2013
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disordersCaroline Nava, Boris Keren, Cyril Mignot, et al.
Neurology. Genetics|December 25, 2019
Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variabilityGiulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 24, 2026
Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related DisorderMoritz Thiel, Katerina Bernardi, Enrique Gonzalez Saez-Diez, et al.
Journal of the Neurological Sciences|August 15, 2018
Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesiaAnne Koy, Sebahattin Cirak, Victoria Gonzalez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 31, 2026
Psychiatric Disorders and Apathy in Mixed Movement Disorders Linked to ADCY5 (MxMD-ADCY5)Aurélie Méneret, Clément Tarrano, Asya Ekmen, et al.
Amino Acids|July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disordersCaroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Parkinsonism & Related Disorders|April 26, 2020
Increased diagnostic yield in complex dystonia through exome sequencingThomas Wirth, Christine Tranchant, Nathalie Drouot, et al.
Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, et al.
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