Biography and Research Information
OverviewAI-generated summary
Akilandeswari Aravindhan's research focuses on the genetic underpinnings of neurological and neuromuscular disorders, particularly in pediatric populations. Her work has investigated novel genetic mutations associated with conditions such as Limb-Girdle Muscular Dystrophy R9, hereditary spastic paraplegia, congenital myasthenic syndrome, infantile-onset complex hereditary spastic paraplegia, autosomal recessive spastic ataxia of Charlevoix–Saguenay, and dystrophinopathy. Aravindhan has published on these topics, contributing to the understanding of genetic etiology and clinical presentations. Her collaborations include work with Aravindhan Veerapandiyan, Reem H. ElSheikh, Murat Gökden, and Vikki Stefans, primarily at the University of Arkansas for Medical Sciences, resulting in several shared publications. Her scholarship metrics include an h-index of 3 with 14 total publications and 51 total citations.
Metrics
- h-index: 3
- Publications: 14
- Citations: 52
Selected Publications
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Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the <i>SACS</i> Gene (2022)
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Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene (2022)
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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene (2022)
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Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene (2022)
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Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene (2021)
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Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation (2021)
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A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis (2021)
Collaboration Network
Top Collaborators
Aravindhan Veerapandiyan
University of Arkansas for Medical Sciences
7 shared publications
In database
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation
- Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene
Showing 5 of 7 shared publications
Thirumalaivasan Dhasakeerthi
University of Tennessee Health Science Center (US)
2 shared publications
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
- A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis
Sebastian Boysen
University of Arkansas for Medical Sciences (US)
2 shared publications
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
- Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene
Reem H. ElSheikh
University of Arkansas for Medical Sciences
2 shared publications
In database
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
- Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene
Paul Drake
Arkansas Children's Hospital
1 shared publication
In database
- A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis
H. William Scott
Arkansas Children's Hospital (US)
1 shared publication
- Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation
Aaron Woodall
Arkansas Children's Hospital
1 shared publication
In database
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
Weston B. Mills
University of Arkansas for Medical Sciences
1 shared publication
In database
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
Vimala Elumalai
University of Arkansas for Medical Sciences
1 shared publication
In database
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
Erin Willis
Arkansas Children's Hospital (US)
1 shared publication
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
Steven A. Moore
University of Iowa (US)
1 shared publication
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
Mary O. Cox
University of Iowa (US)
1 shared publication
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
Vikki Stefans
University of Arkansas for Medical Sciences
1 shared publication
In database
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
Murat Gökden
University of Arkansas for Medical Sciences
1 shared publication
In database
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
Rohan Sharma
University of Arkansas for Medical Sciences (US)
1 shared publication
- Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the <i>SACS</i> Gene
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