Austin Larson

11PUBLICATIONS
165CO-AUTHORS
Neurology and neuromuscular diseasesMetabolic medicineMedical biochemistry - proteins and peptides (incl. medical proteomics)Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (11)

|Oct 30, 2026
Cryptic Presentations of Neurologic Wilson Disease With ATP7B Peptide Assessments.

|Sep 09, 2026
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Feb 27, 2025
Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.

Micah G Pascual, Hannah C Cox, Austin Larson

|Jan 30, 2025
Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

Alina Ivaniuk, Irina A Anselm, Aaron Bowen

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Frequent Collaborators

3 joint publications

Mark Tarnopolsky

3 joint publications

Johan L K Van Hove

3 joint publications

Bruce H Cohen

2 joint publications

Mariella Simon