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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

2025

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.

Pediatric cardiology

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2025

Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.

Neurology and therapy

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2025

Emerging therapies in hereditary ataxias

Trends in Molecular Medicine

2025

Measurement Properties of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia

Neurology and Therapy

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2025

Neuroimaging Biomarkers for Friedreich Ataxia: A Cross鈥怱ectional Analysis of the TRACK鈥怓A Study

Annals of Neurology