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Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV, Bauché S, Pérez-Guàrdia L, Sternberg D, Seferian AM, Malfatti E, Silva-Rojas R, Labasse C, Chevessier F, Carlier P, Eymard B, Romero NB, Laporte J, Servais L, Gidaro T, Böhm J. Brande LV, et al. Among authors: malfatti e. Neuropathol Appl Neurobiol. 2023 Dec 20:e12952. doi: 10.1111/nan.12952. Online ahead of print. Neuropathol Appl Neurobiol. 2023. PMID: 38124360
Victor(iou)'s myologists: snapshots of a legacy.
Ravenscroft G, Malfatti E; WMS Young Myologists of the Year. Ravenscroft G, et al. Among authors: malfatti e. Neuromuscul Disord. 2021 Oct;31(10):1096-1099. doi: 10.1016/j.nmd.2021.07.010. Neuromuscul Disord. 2021. PMID: 34736630 No abstract available.
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L, Tiranti V, Marsano RM, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I, Zeviani M. Valente L, et al. Among authors: malfatti e. Am J Hum Genet. 2007 Jan;80(1):44-58. doi: 10.1086/510559. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160893 Free PMC article.
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.
Cardaioli E, Da Pozzo P, Gallus GN, Malandrini A, Gambelli S, Gaudiano C, Malfatti E, Viscomi C, Zicari E, Berti G, Serni G, Dotti MT, Federico A. Cardaioli E, et al. Among authors: malfatti e. Neuromuscul Disord. 2007 Oct;17(9-10):681-3. doi: 10.1016/j.nmd.2007.05.001. Epub 2007 Jul 5. Neuromuscul Disord. 2007. PMID: 17614276
Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7.
Marg A, Escobar H, Karaiskos N, Grunwald SA, Metzler E, Kieshauer J, Sauer S, Pasemann D, Malfatti E, Mompoint D, Quijano-Roy S, Boltengagen A, Schneider J, Schülke M, Kunz S, Carlier R, Birchmeier C, Amthor H, Spuler A, Kocks C, Rajewsky N, Spuler S. Marg A, et al. Among authors: malfatti e. Nat Commun. 2019 Dec 18;10(1):5776. doi: 10.1038/s41467-019-13650-z. Nat Commun. 2019. PMID: 31852888 Free PMC article.
136 results