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Page 1
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: malfatti e. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
Editorial: Myopathology of inherited myopathies.
Fiorillo C, Malfatti E, Meola G. Fiorillo C, et al. Among authors: malfatti e. Front Neurol. 2022 Aug 17;13:1004562. doi: 10.3389/fneur.2022.1004562. eCollection 2022. Front Neurol. 2022. PMID: 36062011 Free PMC article. No abstract available.
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.
149 results