Susan L. Perlman

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, American journal of human genetics.

Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS

Melanie Bahlo, Elsdon Storey, David Valle, 2019, bioRxiv.

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia

S. Subramony, S. Perlman, K. Mathews, 2018, Journal of child neurology.

Digital Commons @ University of South Florida Digital Commons @ University of South Florida

S. Subramony, G. Wilmot, C. Hoyle, 2022 .

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance

M. Synofzik, A. Thieme, S. T. du Montcel, 2023, Cerebellum.