Vikki Stefans
Professor
Formerly Arkansas Affiliated with UAMS through 2024; recent publications list Arkansas Children's Hospital.
Faculty Researcher
Peds Pediatrics, College of Medicine
Research Areas
Biomedical Subjects
Biography and Research Information
OverviewAI-generated summary
Vikki Stefans' research focuses on the genetic and phenotypic variability of neuromuscular disorders, particularly Duchenne muscular dystrophy and limb-girdle muscular dystrophy. Her work investigates the underlying genetic mutations and their correlation with disease presentation, as demonstrated in studies on novel variants in the FKRP gene and pathologic variability in ACTA1 myopathy.
Stefans has published 29 articles, accumulating 371 citations, and holds an h-index of 9. Her recent publications include insights from expert physicians on access to novel therapies for Duchenne muscular dystrophy. She collaborates with researchers at the University of Arkansas for Medical Sciences, including Murat Gökden and Aravindhan Veerapandiyan, with whom she shares multiple publications. Her work contributes to understanding rare genetic conditions affecting children and adolescents.
Metrics
- h-index: 9
- Publications: 29
- Citations: 371
Selected Publications
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Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians (2024)
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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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Combination molecular therapies for type 1 spinal muscular atrophy (2020)
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BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review (2020)
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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)
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Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome (2019)
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<i>GMPPB</i>-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation (2015)
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Poster 421 Primary Amoebic Meningitis Survivor Story from a Rehabilitation Point of View: A Case Report (2014)
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Experiences from the development of a comprehensive family support program for pediatric trauma and rehabilitation patients (2005)
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Pulmonary embolism in rehabilitation patients: Relation to time before return to physical therapy after diagnosis of deep vein thrombosis (1997)
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Developing anxiety-reduction procedures for a ventilator-dependent pediatric patient. (1991)
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Protocol for the Use of Videofluoroscopy in Pediatric Swallowing Dysfunction (1990)
Grants & Funding
As listed on this researcher's institutional profile.
- MDA Care Center Grant - Continuation Muscular Dystrophy Association Co-Investigator
Collaboration Network
Top Collaborators
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
- Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
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