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Page 1
Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.
De Bortoli M, Meraviglia V, Mackova K, Frommelt LS, König E, Rainer J, Volani C, Benzoni P, Schlittler M, Cattelan G, Motta BM, Volpato C, Rauhe W, Barbuti A, Zacchigna S, Pramstaller PP, Rossini A. De Bortoli M, et al. Among authors: volpato c. Comput Struct Biotechnol J. 2023 Feb 17;21:1759-1773. doi: 10.1016/j.csbj.2023.02.029. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36915380 Free PMC article.
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.
Meraviglia V, Cattelan G, De Bortoli M, Motta BM, Volpato C, Frommelt LS, Rauhe W, Di Segni M, Silipigni R, Pramstaller PP, Rossini A. Meraviglia V, et al. Among authors: volpato c. Stem Cell Res. 2021 Aug;55:102466. doi: 10.1016/j.scr.2021.102466. Epub 2021 Jul 15. Stem Cell Res. 2021. PMID: 34298432 Free article.
Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
König E, Volpato CB, Motta BM, Blankenburg H, Picard A, Pramstaller P, Casella M, Rauhe W, Pompilio G, Meraviglia V, Domingues FS, Sommariva E, Rossini A. König E, et al. BMC Med Genet. 2017 Dec 8;18(1):145. doi: 10.1186/s12881-017-0503-7. BMC Med Genet. 2017. PMID: 29221435 Free PMC article.
Derivation of human induced pluripotent stem cell line EURACi004-A from skin fibroblasts of a patient with Arrhythmogenic Cardiomyopathy carrying the heterozygous PKP2 mutation c.2569_3018del50.
Ermon B, Volpato CB, Cattelan G, Silipigni R, Di Segni M, Cantaloni C, Casella M, Pramstaller PP, Pompilio G, Sommariva E, Meraviglia V, Rossini A. Ermon B, et al. Among authors: volpato cb. Stem Cell Res. 2018 Oct;32:78-82. doi: 10.1016/j.scr.2018.09.003. Epub 2018 Sep 6. Stem Cell Res. 2018. PMID: 30219716 Free PMC article.
Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.
Gilmozzi V, Gentile G, Riekschnitz DA, Volpato CB, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I, Zanon A. Gilmozzi V, et al. Among authors: volpato cb. Stem Cell Res. 2022 Apr;60:102713. doi: 10.1016/j.scr.2022.102713. Epub 2022 Feb 16. Stem Cell Res. 2022. PMID: 35189566 Free article.
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP. Domingues FS, et al. Among authors: volpato cb. Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23. Seizure. 2019. PMID: 30818181 Free article.
Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene.
Zanon A, Riekschnitz D, von Troyer M, Volpato C, Picard A, Cantaloni C, Di Segni M, Silipigni R, Pramstaller PP, Hicks AA, Pichler I. Zanon A, et al. Among authors: volpato c. Stem Cell Res. 2019 Dec;41:101624. doi: 10.1016/j.scr.2019.101624. Epub 2019 Oct 25. Stem Cell Res. 2019. PMID: 31715428 Free article.
Silencing of CCR4-NOT complex subunits affects heart structure and function.
Elmén L, Volpato CB, Kervadec A, Pineda S, Kalvakuri S, Alayari NN, Foco L, Pramstaller PP, Ocorr K, Rossini A, Cammarato A, Colas AR, Hicks AA, Bodmer R. Elmén L, et al. Dis Model Mech. 2020 Jul 20;13(7):dmm044727. doi: 10.1242/dmm.044727. Dis Model Mech. 2020. PMID: 32471864 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34005014
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study.
Emmert DB, Vukovic V, Dordevic N, Weichenberger CX, Losi C, D'Elia Y, Volpato C, Hernandes VV, Gögele M, Foco L, Pontali G, Mascalzoni D, Domingues FS, Paulmichl R, Pramstaller PP, Pattaro C, Rossini A, Rainer J, Fuchsberger C, De Bortoli M. Emmert DB, et al. Among authors: volpato c. Biomolecules. 2021 Nov 9;11(11):1663. doi: 10.3390/biom11111663. Biomolecules. 2021. PMID: 34827661 Free PMC article.
135 results