- 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…
- Investigator
- Sub Subramony
- Status
- Accepting Candidates
- Ages
- 18 Years - 70 Years
- Sexes
- All
My publications
Filter publications
183 publications
2022
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle & nerve
•2022
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Orphanet journal of rare diseases
•2022
Inherited Ataxias in Children.
Pediatric neurology
•2022
Natural History of Friedreich Ataxia
Neurology
2022
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
Neurology