- 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
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
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as鈥�
- Investigators
- Matthew R Burns, Sub Subramony
- Status
- Accepting Candidates
- Ages
- 6 Years - N/A
- Sexes
- All
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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