- 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
2024
A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia.
Cerebellum (London, England)
•2024
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Movement disorders clinical practice
•2024
Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study
Annals of Clinical and Translational Neurology
•2024
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
Movement disorders clinical practice
•2024
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
Journal of neurology
•