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

2022

Scale for Ocular motor Disorders in Ataxia (SODA).

Journal of the neurological sciences

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2021

Body Mass Index and Height in the Friedreich Ataxia Clinical Outcome Measures Study.

Neurology. Genetics

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2021

CCG鈥GG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.

EMBO molecular medicine

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2021

Gauging Gait Disorders with a Method Inspired by Motor Control Theories: A Pilot Study in Friedreich's Ataxia.

Sensors (Basel, Switzerland)

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2021

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of Neurology, Neurosurgery & Psychiatry

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