- 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
2018
Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.
Neurology. Clinical practice
•2018
Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.
Journal of child neurology
•2018
Longitudinal analysis of contrast acuity in Friedreich ataxia.
Neurology. Genetics
•2018
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
The EMBO journal
•2017
Correction to: SPG7 and Impaired Emotional Communication.
Cerebellum (London, England)
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