David J. Szmulewicz - Publications

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1-Related Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 19, 2026

Preliminary Results of Phenotype Characterisation for Cerebellar Ataxia using Automated Lower Limb Assessment.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: December 03, 2025

Quantitative Ocular Motor / Vestibular Assessment in Patients with Spinocerebellar Ataxia Type 3 (SCA3, Machado Joseph Disease) - Systematic Review of the Literature.

Journal: Cerebellum (London, England)

Published: November 19, 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

Two-year decline in performance on the Cerebellar Cognitive Affective Syndrome Scale in spinocerebellar ataxias.

Journal: Journal of neurology

Published: July 20, 2025

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Journal: Cerebellum (London, England)

Published: June 01, 2025

Psychomotor and non-motor correlates of cognition in spinocerebellar ataxias Types 1, 2, 3, and 6.

Journal: Brain communications

Published: March 25, 2025

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Journal: Annals of neurology

Published: July 22, 2024

Oculomotor and Vestibular Deficits in Friedreich Ataxia - Systematic Review and Meta-Analysis of Quantitative Measurements.

Journal: Cerebellum (London, England)

Published: June 25, 2024

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia.

Journal: Genome research

Published: June 11, 2024

Patient-Related Outcome Measures for Oculomotor Symptoms in the Cerebellar Ataxias: Insights from Non-Cerebellar Disorders.

Journal: Cerebellum (London, England)

Published: January 05, 2024

Machine Learning Based Diagnosis of Vertigo using Video Head Impulse Test.

Journal: Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference

Published: December 12, 2023