- 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
2022
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Muscle & nerve
鈥�2022
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Orphanet journal of rare diseases
鈥�2022
Inherited Ataxias in Children.
Pediatric neurology
鈥�2022
Natural History of Friedreich Ataxia: Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design.
Neurology
鈥�2022
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease.
Neurology
鈥�