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Sub Subramony, MD : Research

Neuromuscular Medicine Specialist

Additional languages:
Hindi,
Malayalam,
Tamil
Photo of Sub Subramony

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

JIVE (LARIMAR)

To evaluate the safety and tolerability, pharmacokinetics (PK), and pharmacodynamics (PD) of subcutaneous (SC) administration of CTI-1601 over 28 days in subjects with Friedreich's ataxia (FRDA).

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - N/A
Sexes
All
Vertex
Investigator
Sub Subramony
Status
Accepting Candidates
Avidity FSHD

A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral…

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
16 Years - 70 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

•