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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 , 31 publications
  • Friedreich Ataxia , 29 publications
  • Phenotype , 19 publications
  • Spinocerebellar Degenerations , 17 publications

Research activity

178 publications

9,337 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

END-DM1

Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological鈥�

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - 70 Years
Sexes
All
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias

Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2,3, and 6 (SCA 1, SCA 2, SCA 3 , also known as鈥�

Investigators
Matthew R Burns, Sub Subramony
Status
Accepting Candidates
Ages
6 Years - N/A
Sexes
All

My publications

178 publications

2023

Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.

The Lancet. Neurology

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2023

Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.

Neurology

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2023

Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.

Annals of neurology

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2023

Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia.

Journal of neurology

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2023

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

Movement disorders : official journal of the Movement Disorder Society

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