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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

2018

Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.

Neurology. Clinical practice

•

2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

Journal of child neurology

•

2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurology. Genetics

•

2018

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.

The EMBO journal

•

2017

Correction to: SPG7 and Impaired Emotional Communication.

Cerebellum (London, England)

•