STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases

von Silva-Rojas, Roberto, Laporte, Jocelyn, Böhm, Johann
Veröffentlicht in Front Physiol (2020)

Pathophysiological Effects of Overactive STIM1 on Murine Muscle Function and Structure

von Silva-Rojas, Roberto, Charles, Anne-Laure, Djeddi, Sarah, Geny, Bernard, Laporte, Jocelyn, Böhm, Johann
Veröffentlicht in Cells (2021)

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

von Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
Veröffentlicht in JCI Insight (2020)