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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

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…

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

My publications

183 publications

2023

Friedreich's Ataxia-ÍøºìºÚÁÏ Index

Neurology Clinical Practice

2023

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Neurology

2023

The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications.

Cerebellum (London, England)

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2022

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.

PloS one

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2022

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.

Frontiers in molecular biosciences

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