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

2018

Delayed diagnosis of DOK7 congenital myasthenic syndrome: Case report and literature review.

Neurology. Clinical practice

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2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

Journal of child neurology

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2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurology. Genetics

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2018

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.

The EMBO journal

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2017

Correction to: SPG7 and Impaired Emotional Communication.

Cerebellum (London, England)

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