Akilandeswari Aravindhan
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Also affiliated: University of Iowa (2019); Arkansas Children's Hospital (2019–2022); University of Arkansas Medical Center (2019); University of Rochester Medicine (2018); MSN Laboratories (India) (2019); Rutgers New Jersey Medical School (2016–2018); University of Rochester (2018)
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
Akilandeswari Aravindhan's research focuses on the genetic underpinnings of neurological and muscular disorders, particularly in pediatric populations. Her work has identified novel gene mutations associated with conditions such as Limb-Girdle Muscular Dystrophy R9, hereditary spastic paraplegia, congenital myasthenic syndrome, and infantile-onset complex hereditary spastic paraplegia. She also investigates presentations of dystrophinopathy and autosomal recessive spastic ataxia of Charlevoix–Saguenay.
Aravindhan collaborates with researchers at the University of Arkansas for Medical Sciences, including Aravindhan Veerapandiyan, with whom she has co-authored seven publications. Her research utilizes a range of medical subject headings, including humans, mutation, male, spastic paraplegia, hereditary, child, infant, and magnetic resonance imaging, reflecting the scope of her investigations into rare genetic diseases affecting the nervous system and muscles. Her work contributes to the understanding of disease mechanisms and potential diagnostic avenues for these conditions.
Metrics
- h-index: 3
- Publications: 14
- Citations: 56
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)
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Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation (2020)
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A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy (2019)
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Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype (2019)
Collaboration Network
Top Collaborators
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
Showing 5 of 10 shared publications
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene
- A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
- Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene
- Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene
- Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- A novel noncoding <i>FKRP</i> mutation in early onset limb-girdle muscular dystrophy
- A rare neuro-ophthalmological phenomenon: Marcus Gunn jaw winking ptosis
- Exercise Intolerance and Rhabdomyolysis Due to Dystrophinopathy: A Pseudometabolic Presentation
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