Akilandeswari Aravindhan

Researcher

University of Arkansas for Medical Sciences

faculty

3 h-index 14 pubs 51 cited

Research Areas

Genomics and Rare Diseases Neurological disorders and treatments Muscle Physiology and Disorders Metabolism and Genetic Disorders Neuroscience and Neuropharmacology Research Birth, Development, and Health Bioinformatics and Genomic Networks

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OverviewAI-generated summary

Akilandeswari Aravindhan's research focuses on the genetic underpinnings of neurological disorders, particularly those affecting the neuromuscular system. Her recent publications investigate novel genetic variants associated with Limb-Girdle Muscular Dystrophy R9, epilepsy in hereditary spastic paraplegia, congenital myasthenic syndrome, infantile-onset complex hereditary spastic paraplegia, and autosomal recessive spastic ataxia of Charlevoix–Saguenay. Additionally, her work has explored exercise intolerance and rhabdomyolysis in dystrophinopathy and a rare neuro-ophthalmological phenomenon, Marcus Gunn jaw winking ptosis. Aravindhan has a publication record of 14 papers and a citation count of 51, with an h-index of 3. She actively collaborates with researchers at the University of Arkansas for Medical Sciences, including Aravindhan Veerapandiyan, with whom she has co-authored seven publications. Her recent activity indicates ongoing engagement in the field.

Metrics

  • h-index: 3
  • Publications: 14
  • Citations: 51

Selected Publications

  • Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the <i>SACS</i> Gene (2022) DOI
  • Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene (2022) DOI
  • Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene (2022) DOI
  • Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene (2022) DOI
  • Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene (2021) DOI
  • Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation (2021) DOI
  • A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis (2021) DOI

Collaborators

Researchers in the database who share publications

Aravindhan Veerapandiyan University of Arkansas for Medical Sciences 7 shared publications Reem H. ElSheikh University of Arkansas for Medical Sciences 2 shared publications Murat Gökden University of Arkansas for Medical Sciences 1 shared publication Vikki Stefans University of Arkansas for Medical Sciences 1 shared publication Aaron Woodall University of Arkansas for Medical Sciences 1 shared publication Weston B. Mills University of Arkansas for Medical Sciences 1 shared publication Paul Drake University of Arkansas for Medical Sciences 1 shared publication Vimala Elumalai University of Arkansas for Medical Sciences 1 shared publication

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