- 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
2013
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Orphanet journal of rare diseases
•2013
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Cerebellum (London, England)
•2013
Generation of human-induced pluripotent stem cells to model spinocerebellar ataxia type 2 in vitro.
Journal of molecular neuroscience : MN
•2013
Generation of neural cells from DM1 induced pluripotent stem cells as cellular model for the study of central nervous system neuropathogenesis.
Cellular reprogramming
•2013
Long-term safety of dichloroacetate in congenital lactic acidosis.
Molecular genetics and metabolism
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