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

A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia.

Cerebellum (London, England)

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2024

Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.

Movement disorders clinical practice

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2024

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study

Annals of Clinical and Translational Neurology

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2024

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.

Movement disorders clinical practice

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2024

Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.

Journal of neurology

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