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

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

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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