Gabriella Horvath

10PUBLICATIONS
55CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesMajor global burdens of diseaseDisease surveillanceMetabolic medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (10)

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|Feb 06, 2026
A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia.

Emilie T Théberge, Bo Sun, Ruiwu Wang

|Nov 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek

|Mar 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella

|Jan 31, 2022
Psychiatric Manifestations in Patients with Biopterin Defects.

Maksim Parfyonov, Robin Friedlander, Brian Banno

|Feb 05, 2020
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.

Liza Douiev, Ruth Sheffer, Gabriella Horvath

Pageof 2

Frequent Collaborators

2 joint publications

Elisenda Cortès-Saladelafont

2 joint publications

Thomas Opladen

1 joint publications

Csilla Egri

1 joint publications

Ann Saada