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A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. Rossi D, et al. Among authors: spinozzi s. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25116801 Free PMC article.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Barone V, Del Re V, Gamberucci A, Polverino V, Galli L, Rossi D, Costanzi E, Toniolo L, Berti G, Malandrini A, Ricci G, Siciliano G, Vattemi G, Tomelleri G, Pierantozzi E, Spinozzi S, Volpi N, Fulceri R, Battistutta R, Reggiani C, Sorrentino V. Barone V, et al. Among authors: spinozzi s. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26. Hum Mutat. 2017. PMID: 28895244
Identifying the Cardiac Dyad Proteome In Vivo by a BioID2 Knock-In Strategy.
Feng W, Liu C, Spinozzi S, Wang L, Evans SM, Chen J. Feng W, et al. Among authors: spinozzi s. Circulation. 2020 Mar 17;141(11):940-942. doi: 10.1161/CIRCULATIONAHA.119.043434. Epub 2020 Mar 16. Circulation. 2020. PMID: 32176542 Free PMC article. No abstract available.
Atypical ALPK2 kinase is not essential for cardiac development and function.
Bogomolovas J, Feng W, Yu MD, Huang S, Zhang L, Trexler C, Gu Y, Spinozzi S, Chen J. Bogomolovas J, et al. Among authors: spinozzi s. Am J Physiol Heart Circ Physiol. 2020 Jun 1;318(6):H1509-H1515. doi: 10.1152/ajpheart.00249.2020. Epub 2020 May 8. Am J Physiol Heart Circ Physiol. 2020. PMID: 32383995 Free PMC article.
Homozygous G650del nexilin variant causes cardiomyopathy in mice.
Liu C, Spinozzi S, Feng W, Chen Z, Zhang L, Zhu S, Wu T, Fang X, Ouyang K, Evans SM, Chen J. Liu C, et al. Among authors: spinozzi s. JCI Insight. 2020 Aug 20;5(16):e138780. doi: 10.1172/jci.insight.138780. JCI Insight. 2020. PMID: 32814711 Free PMC article.
Cardiolipin Remodeling Defects Impair Mitochondrial Architecture and Function in a Murine Model of Barth Syndrome Cardiomyopathy.
Zhu S, Chen Z, Zhu M, Shen Y, Leon LJ, Chi L, Spinozzi S, Tan C, Gu Y, Nguyen A, Zhou Y, Feng W, Vaz FM, Wang X, Gustafsson AB, Evans SM, Kunfu O, Fang X. Zhu S, et al. Among authors: spinozzi s. Circ Heart Fail. 2021 Jun;14(6):e008289. doi: 10.1161/CIRCHEARTFAILURE.121.008289. Epub 2021 Jun 15. Circ Heart Fail. 2021. PMID: 34129362 Free PMC article.
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