- Investigator
- Sub Subramony
- Status
- Accepting Candidates
Research at a glance
Top areas of exploration
- Spinocerebellar Ataxias , 26 publications
- Friedreich Ataxia , 22 publications
- Phenotype , 17 publications
- Spinocerebellar Degenerations , 16 publications
Research activity
Focus
My key research interests include phenotypic characterization, phenotype-genotype correlations and pathogenic mechansims in genetically induced cerebellar ataxias and muscular dystrophies. In addition, I also am interested in developing assessment methods, biomarker discovery and therapeutic modalities for such diseases.
Active clinical trials
A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Adult Participants with Facioscapulohumeral…
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
- Ages
- 18 Years - 65 Years
- Sexes
- All
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
My publications
Filter publications
166 publications
2024
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
Journal of neurology
PubMed • Publisher's site2024
Friedreich Ataxia Caregiver-Reported Health Index
Neurology Clinical Practice
Publisher's site2024
Perspectives of the Friedreich ataxia community on gene therapy clinical trials.
Molecular therapy. Methods & clinical development
PubMed • Publisher's site2024
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data
Annals of Clinical and Translational Neurology
PubMed • Publisher's site2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv : the preprint server for health sciences
PubMed • Publisher's site