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(352) 273-5550

Sub Subramony, MD : Research

Neuromuscular Medicine Specialist

Additional languages:
Hindi,
Malayalam,
Tamil
Photo of Sub Subramony
(352) 273-5550 MyUF网红黑料

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

183 publications

9,381 citations

Why is this important?

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

Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

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

183 publications

2024

Friedreich Ataxia Caregiver-Reported 网红黑料 Index

Neurology Clinical Practice

2024

Perspectives of the Friedreich ataxia community on gene therapy clinical trials.

Molecular therapy. Methods & clinical development

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2024

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

Annals of Clinical and Translational Neurology

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2024

Protein鈥恊xtending 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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