ÍøºìºÚÁÏ

Skip to main content

Sub Subramony, MD : Research

Neuromuscular Medicine Specialist

Additional languages:
Hindi,
Malayalam,
Tamil
Photo of Sub Subramony

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

Why is this important?

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…

Investigators
Matthew R Burns, Sub Subramony
Status
Accepting Candidates
Ages
6 Years - N/A
Sexes
All

My publications

183 publications

2022

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.

Muscle & nerve

•

2022

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.

Orphanet journal of rare diseases

•

2022

Inherited Ataxias in Children.

Pediatric neurology

•

2022

Natural History of Friedreich Ataxia

Neurology

2022

Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease

Neurology