- Investigator
- Sub Subramony
- Status
- Accepting Candidates
Research at a glance
Top areas of exploration
- Spinocerebellar Ataxias , 31 publications
- Friedreich Ataxia , 29 publications
- Phenotype , 19 publications
- Spinocerebellar Degenerations , 17 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 Participants with Facioscapulohumeral鈥�
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
- Ages
- 16 Years - 70 Years
- Sexes
- All
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
My publications
Filter publications
178 publications
2024
Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.
Neurology. Clinical practice
鈥�2024
Perspectives of the Friedreich ataxia community on gene therapy clinical trials.
Molecular therapy. Methods & clinical development
鈥�2024
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
Annals of clinical and translational neurology
鈥�2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Annals of clinical and translational neurology
鈥�2024
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
medRxiv : the preprint server for health sciences
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