| STIM1/ORAI1 loss-of-function and gain-of-function mutations inversely impact on SOCE and calcium homeostasis and cause multi-systemic mirror diseases R Silva-Rojas, J Laporte, J Böhm Frontiers in Physiology 11, 604941, 2020 | 52 | 2020 |
| STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice R Silva-Rojas, S Treves, H Jacobs, P Kessler, N Messaddeq, J Laporte, ... Human molecular genetics 28 (10), 1579-1593, 2019 | 41 | 2019 |
| Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes R Silva-Rojas, V Nattarayan, F Jaque-Fernandez, R Gomez-Oca, ... Molecular Therapy 30 (2), 868-880, 2022 | 21 | 2022 |
| Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin XM Muñoz, C Kretz, R Silva-Rojas, J Ochala, A Menuet, NB Romero, ... JCI insight 5 (18), 2020 | 19 | 2020 |
| Pathophysiological effects of overactive STIM1 on murine muscle function and structure R Silva-Rojas, AL Charles, S Djeddi, B Geny, J Laporte, J Böhm Cells 10 (7), 1730, 2021 | 13 | 2021 |
| Wnt5a promotes lysosomal cholesterol egress and protects against atherosclerosis S Awan, M Lambert, A Imtiaz, F Alpy, C Tomasetto, M Oulad-Abdelghani, ... Circulation research 130 (2), 184-199, 2022 | 12 | 2022 |
| Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice R Silva-Rojas, L Pérez-Guàrdia, E Lafabrie, D Moulaert, J Laporte, ... International journal of molecular sciences 23 (13), 6968, 2022 | 7 | 2022 |
| Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy X Lornage, M Mallaret, R Silva-Rojas, V Biancalana, D Giovannini, ... neurogenetics, 1-9, 2021 | 4 | 2021 |
| A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation A Echaniz‐Laguna, X Lornage, P Laforêt, MC Orngreen, E Edelweiss, ... Annals of Neurology 88 (2), 274-282, 2020 | 4 | 2020 |
| Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome GA Peche, C Spiegelhalter, R Silva‐Rojas, J Laporte, J Böhm Neuropathology 40 (6), 559-569, 2020 | 3 | 2020 |
| ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome R Silva-Rojas, L Pérez-Guàrdia, A Simon, S Djeddi, S Treves, A Ribes, ... JCI insight 9 (6), 2024 | | 2024 |
| Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation L vanden Brande, S Bauché, L Pérez‐Guàrdia, D Sternberg, AM Seferian, ... Neuropathology and Applied Neurobiology 50 (1), e12952, 2024 | | 2024 |
| P57 ORAI1 inhibition as a preclinical therapy for tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) R Silva-Rojas, L Pérez-Guàrdia, A Simon, S Djeddi, S Treves, J Laporte, ... Neuromuscular Disorders 33, S73, 2023 | | 2023 |
| O. 05 Silencing of the Ca2+ channel ORAI1 improves the multi-systemic phenotype of tubular aggregate myopathy and Stormorken syndrome in mice R Silva-Rojas, J Laporte, J Böhm Neuromuscular Disorders 32, S44, 2022 | | 2022 |
| Physiopathology of tubular aggregate myophathy (TAM) and therapeutic approaches R Silva Rojas Strasbourg, 2021 | | 2021 |
| CONGENITAL MYOPATHIES: CENTRONUCLEAR AND OTHERS: P. 103STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the … R Silva-Rojas, S Treves, J Laporte, J Böhm Neuromuscular Disorders 29, S78, 2019 | | 2019 |
| Structural duality in peptides derived from choline binding repeats H Zamora-Carreras, R Silva-Rojas, B Maestro, E Strandberg, AS Ulrich, ... | | 2015 |
