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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 MyUFÍøºìºÚÁÏ

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

Vertex Drug

The purpose of the study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 at different single and multiple doses in participants with DM1.

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - 64 Years
Sexes
All
HARBOR

A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy Type 1

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
16 Years - 65 Years
Sexes
All
GRASP-01-003

This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

Investigators
Carla Zingariello, Sub Subramony
Status
Accepting Candidates
Ages
12 Years - 50 Years
Sexes
All

My 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

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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

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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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