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Vikki Stefans

University of Arkansas for Medical Sciences

21

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205

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Combination molecular therapies for type 1 spinal muscular atrophy.

2020 Muscle & Nerve
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Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.

2020 Journal of Clinical Neuromuscular Disease
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Clinical Reasoning: A 6 year old boy with muscle twitching.

2020 Neurology
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BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.

2020 Journal of Clinical Neuromuscular Disease
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Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype

2019 Journal of pediatric neurology
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Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

2019 American Journal of Medical Genetics Part A
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Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome

2018 Journal of Clinical Neuromuscular Disease
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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

2017
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GMPPB‐Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

2015 Human Mutation
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Poster 421 Primary Amoebic Meningitis Survivor Story from a Rehabilitation Point of View: A Case Report

2014 Pm&r
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