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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: rossi d. Hum Mutat. 2017 Dec;38(12):1761-1773. doi: 10.1002/humu.23338. Epub 2017 Sep 26. Hum Mutat. 2017. PMID: 28895244
Intracellular Ca(2+) release channels in evolution.
Sorrentino V, Barone V, Rossi D. Sorrentino V, et al. Among authors: rossi d. Curr Opin Genet Dev. 2000 Dec;10(6):662-7. doi: 10.1016/s0959-437x(00)00139-8. Curr Opin Genet Dev. 2000. PMID: 11088018 Review.
1,756 results