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Iscience|September 8, 2025
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsDimitri Budinger, Sharmin Alhaque, Ramón González-Méndez, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 2, 2022
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement DisordersBelén Pérez-Dueñas, Kathleen Gorman, Anna Marcé-Grau, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of ATP1A3-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 25, 2022
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe DystoniaKimberley M Reid, Robert Spaull, Smrithi Salian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathyChiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
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