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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print.
Neuropathol Appl Neurobiol. 2023.
PMID: 38124360
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.
Silva-Rojas R, Pérez-Guàrdia L, Lafabrie E, Moulaert D, Laporte J, Böhm J.
Silva-Rojas R, et al. Among authors: perez guardia l.
Int J Mol Sci. 2022 Jun 23;23(13):6968. doi: 10.3390/ijms23136968.
Int J Mol Sci. 2022.
PMID: 35805973
Free PMC article.
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ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.
Silva-Rojas R, Pérez-Guàrdia L, Simon A, Djeddi S, Treves S, Ribes A, Silva-Hernández L, Tard C, Laporte J, Böhm J.
Silva-Rojas R, et al. Among authors: perez guardia l.
JCI Insight. 2024 Mar 5;9(6):e174866. doi: 10.1172/jci.insight.174866.
JCI Insight. 2024.
PMID: 38516893
Free article.
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