Cornelia Kornblum
6PUBLICATIONS
122CO-AUTHORS
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Publications (6)
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|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
|Oct 13, 2021
Diagnosis and Clinical Development of Sporadic Inclusion Body Myositis and Polymyositis With Mitochondrial Pathology: A Single-Center Retrospective Analysis.Maren Winkler, Christina von Landenberg, Karin Kappes-Horn
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Frequent Collaborators
2 joint publications
Jens Reimann
1 joint publications
Kristl G Claeys
1 joint publications
Benedikt Schoser
1 joint publications
Nadine A M E van der Beek
1 joint publications
Jordi Diaz-Manera
1 joint publications
Thomas Hundsberger
1 joint publications
Pascal Laforet
1 joint publications
W W M Pim Pijnappel
1 joint publications
Thomas Scherer
1 joint publications
John Vissing
