Cornelia Kornblum

7PUBLICATIONS
141CO-AUTHORS
Cell and nuclear divisionMedical biochemistry - amino acids and metabolitesStructural properties of condensed matterMajor global burdens of diseasePharmaceutical delivery technologies
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|Aug 25, 2026
Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant.

|Apr 11, 2026
Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.

Kerstin Filippi, Kathrin Graf-Riesen, Maithreyan Kuppusamy

|Nov 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Milla Laarne, Manu Jokela, Fang Zhao

|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

|Jun 14, 2024
Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Benedikt Schoser, Nadine A M E van der Beek, Alexander Broomfield

|May 15, 2023
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

Nicholas M Allen, Mark O'Rahelly, Bruno Eymard

Pageof 2

Frequent Collaborators

2 joint publications

Jens Reimann

2 joint publications

Yi Shiau Ng

2 joint publications

Robert McFarland

2 joint publications

Michelangelo Mancuso