Last Updated: 09/26/2026
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Found 15 publications
Development and Validation of a Stakeholder-Driven, Self-Contained Electronic Informed Consent Platform for Trio-Based Genomic Research Studies.
Journal: AJOB empirical bioethics
Published: June 23, 2025
Combined Dietary Restriction and Chelation Therapy Reduces Manganese Burden in SLC39A14-Associated Manganism.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 07, 2025
Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies.
Journal: medRxiv : the preprint server for health sciences
Published: July 23, 2024
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Journal: Brain : a journal of neurology
Published: April 18, 2023
Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
Journal: Orphanet journal of rare diseases
Published: July 29, 2022
Is Resting State Functional MRI Effective Connectivity in Movement Disorders Helpful? A Focused Review Across Lifespan and Disease.
Journal: Frontiers in neurology
Published: January 03, 2022
Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.
Journal: Movement disorders clinical practice
Published: August 13, 2021
Opsoclonus-myoclonus-ataxia syndrome in children.
Journal: Journal of neurology
Published: March 01, 2021
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Journal: Nature genetics
Published: January 12, 2021
Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability.
Journal: Neurology. Genetics
Published: September 25, 2020
Cataplexy in Patients Harboring the KCNMA1 p.N999S Mutation.
Journal: Movement disorders clinical practice
Published: March 11, 2020
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 24, 2019
Last Updated: 09/26/2026