Andrea H. Nemeth
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 78 publications
Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).
Journal: Ophthalmic genetics
Published: September 16, 2025
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers.
Journal: Cerebellum (London, England)
Published: August 05, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.
Journal: American journal of human genetics
Published: July 28, 2025
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
Journal: Brain : a journal of neurology
Published: August 27, 2024
The effect of different interfaces during virtual game practice on motor performance of individuals with genetic ataxia: A cross-sectional study.
Journal: PloS one
Published: March 12, 2024
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Journal: Cerebellum (London, England)
Published: October 20, 2023
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Journal: Cerebellum (London, England)
Published: September 25, 2023
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2023
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Journal: American journal of human genetics
Published: August 06, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2023
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Journal: Brain : a journal of neurology
Published: July 11, 2023
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Journal: Cerebellum (London, England)
Published: April 18, 2023
Last Updated: 09/26/2026