Sub Subramony, MD - Research

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

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鈥�

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

My publications

183 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

Correction: 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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2025

Correction: 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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2025

Current clinical applications of AAV-mediated gene therapy.

Molecular therapy : the journal of the American Society of Gene Therapy

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