Last Updated: 09/26/2026
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Found 5 publications
Pearls & Oy-sters: CACNA1A-Related Paroxysmal Tonic Upgaze With Ataxia Responsive to Acetazolamide.
Journal: Neurology
Published: January 04, 2024
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.
Journal: Annals of clinical and translational neurology
Published: June 04, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Journal: Genome medicine
Published: September 04, 2020
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Journal: Muscle & nerve
Published: May 01, 2020
Showing 1-5 of 5
Last Updated: 09/26/2026