Austin Larson

9PUBLICATIONS
150CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Major global burdens of diseaseNeurology and neuromuscular diseases
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Publications (9)

|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

|Nov 25, 2024
The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders.

Andrea Cortés Fernández, Jane Estrella, Devin Oglesbee

|Nov 06, 2024
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Sara Gracie, Prasannakumar Deshpande, Patrik Hollos

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Frequent Collaborators

2 joint publications

Piervito Lopriore

2 joint publications

Michio Hirano

2 joint publications

Johan L K Van Hove

2 joint publications

Richard Haas