Gabriella A. Horvath
Vancouver, BC, Canada
Last Updated: 09/26/2026
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Found 73 publications
Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders.
Journal: Annals of clinical and translational neurology
Published: March 18, 2026
Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.
Journal: Molecular genetics and metabolism
Published: January 08, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.
Journal: American journal of medical genetics. Part A
Published: July 29, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Journal: Journal of inherited metabolic disease
Published: July 05, 2025
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.
Journal: NPJ genomic medicine
Published: March 28, 2025
Pediatric Status Dystonicus: A Single-Center 10-Year Retrospective Review.
Journal: Movement disorders clinical practice
Published: March 18, 2025
Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated.
Journal: Molecular genetics and metabolism
Published: December 20, 2024
Pyridostigmine as treatment for chronic gastrointestinal dysmotility in a child with Mowat-Wilson syndrome: A case report and literature review.
Journal: JPGN reports
Published: November 07, 2024
Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 05, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease
Published: December 04, 2023
Last Updated: 09/26/2026