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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

END-DM1

Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological…

Investigator
Sub Subramony
Status
Accepting Candidates
Ages
18 Years - 70 Years
Sexes
All

My publications

183 publications

2024

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

Cerebellum (London, England)

•

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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