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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

Frataxin

The purpose of this research study is to determine a way to measure frataxin messenger RNA (mRNA) in fluids such as blood and cerebrospinal fluid (CSF) from patients with Friedreich's ataxia (FRDA). The gene mutation in FRDA leads to low levels of…

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - 65 Years
Sexes
All
Fortitude OLE

A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
16 Years - 70 Years
Sexes
All
ARTHREX

The goal of this clinical trial is to test ATX-01 in participants with myotonic dystrophy type 1 (DM1). The main question it aims to answer is if ATX-01 is safe and well tolerated. The trial will compare the safety and tolerability of ATX-01 and a…

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - 64 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

•