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

2024

Roussy-L茅vy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy

Tremor and Other Hyperkinetic Movements

鈥�

2024

Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.

The Lancet. Neurology

鈥�

2024

SARA captures disparate progression and responsiveness in spinocerebellar ataxias.

Journal of neurology

鈥�

2024

Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six鈥塎onths in Early Spinocerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society

鈥�

2024

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.

Cerebellum (London, England)

鈥�

网红黑料