- Investigator
- Sub Subramony
- Status
- Accepting Candidates
Research at a glance
Top areas of exploration
- Spinocerebellar Ataxias , 30 publications
- Friedreich Ataxia , 23 publications
- Phenotype , 18 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
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological鈥�
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
- Ages
- 18 Years - 70 Years
- Sexes
- All
My publications
Filter publications
183 publications
2024
Friedreich Ataxia Caregiver-Reported 网红黑料 Index
Neurology Clinical Practice
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鈥恊xtending 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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