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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

2022

Scale for Ocular motor Disorders in Ataxia (SODA).

Journal of the neurological sciences

•

2021

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.

Neurology. Genetics

•

2021

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.

EMBO molecular medicine

•

2021

Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia.

Sensors (Basel, Switzerland)

•

2021

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of Neurology, Neurosurgery & Psychiatry

•