Susan Treves
10PUBLICATIONS
20CO-AUTHORS
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Publications (10)
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|Oct 15, 2025
Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.Alexis Ruiz, Sofia Benucci, Hervé Meier
|Feb 13, 2025
5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.Alexis Ruiz, Faiza Noreen, Hervé Meier
|Mar 06, 2024
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.Sofia Benucci, Alexis Ruiz, Martina Franchini
|Mar 02, 2023
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive <i>Ryr1</i> mutations linked to congenital myopathies.Jan Eckhardt, Alexis Ruiz, Stéphane Koenig
|Feb 08, 2023
Neuromuscular symptoms in patients with <i>RYR1</i>-related malignant hyperthermia and rhabdomyolysis.Luuk R van den Bersselaar, Heinz Jungbluth, Nick Kruijt
|Oct 05, 2022
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.Christoph Bachmann, Martina Franchini, Luuk R Van den Bersselaar
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Frequent Collaborators
4 joint publications
Francesco Zorzato
2 joint publications
Christoph Bachmann
2 joint publications
Luuk R Van den Bersselaar
2 joint publications
Alexis Ruiz
1 joint publications
Marijana Sekulic-Jablanovic
1 joint publications
Volker Enzmann
1 joint publications
Urs Duthaler
1 joint publications
Maud Frieden
1 joint publications
Sofia Benucci
1 joint publications
Martina Franchini
