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Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia.
Circulation. 2006 Sep 5;114(10):1012-9. doi: 10.1161/CIRCULATIONAHA.106.623793. Epub 2006 Aug 14.
Circulation. 2006.
PMID: 16908766
Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor.
Cerrone M, Colombi B, Santoro M, di Barletta MR, Scelsi M, Villani L, Napolitano C, Priori SG.
Cerrone M, et al. Among authors: di barletta mr.
Circ Res. 2005 May 27;96(10):e77-82. doi: 10.1161/01.RES.0000169067.51055.72. Epub 2005 May 12.
Circ Res. 2005.
PMID: 15890976
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A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.
Priori SG, Pandit SV, Rivolta I, Berenfeld O, Ronchetti E, Dhamoon A, Napolitano C, Anumonwo J, di Barletta MR, Gudapakkam S, Bosi G, Stramba-Badiale M, Jalife J.
Priori SG, et al. Among authors: di barletta mr.
Circ Res. 2005 Apr 15;96(7):800-7. doi: 10.1161/01.RES.0000162101.76263.8c. Epub 2005 Mar 10.
Circ Res. 2005.
PMID: 15761194
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Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D.
Cartegni L, et al. Among authors: di barletta mr.
Hum Mol Genet. 1997 Dec;6(13):2257-64. doi: 10.1093/hmg/6.13.2257.
Hum Mol Genet. 1997.
PMID: 9361031
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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K.
Bonne G, et al. Among authors: di barletta mr.
Nat Genet. 1999 Mar;21(3):285-8. doi: 10.1038/6799.
Nat Genet. 1999.
PMID: 10080180
Clinical Trial.
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