Sarah B Neuhaus
2PUBLICATIONS
84CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (2)
Sort by Publication Date:
|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.A Reghan Foley, Véronique Bolduc, Fady Guirguis
|Apr 03, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.Sandra Donkervoort, Martijn van de Locht, Dario Ronchi
Pageof 1
Frequent Collaborators
2 joint publications
Sandra Donkervoort
2 joint publications
Carsten G Bönnemann
2 joint publications
Rotem Orbach
2 joint publications
Giacomo Pietro Comi
2 joint publications
Véronique Bolduc
2 joint publications
A Reghan Foley
1 joint publications
Martijn van de Locht
1 joint publications
Janine Reunert
1 joint publications
Maha Zaki
1 joint publications
Stefan Conijn
