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Items: 10

1.

Interplay of cell-cell contacts and RhoA/MRTF-A signaling regulates cardiomyocyte identity.

Dorn T, Kornherr J, Parrotta EI, Zawada D, Ayetey H, Santamaria G, Iop L, Mastantuono E, Sinnecker D, Goedel A, Dirschinger RJ, My I, Laue S, Bozoglu T, Baarlink C, Ziegler T, Graf E, Hinkel R, Cuda G, Kääb S, Grace AA, Grosse R, Kupatt C, Meitinger T, Smith AG, Laugwitz KL, Moretti A.

EMBO J. 2018 May 15. pii: e98133. doi: 10.15252/embj.201798133. [Epub ahead of print]

2.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y.

Am J Hum Genet. 2018 May 10. pii: S0002-9297(18)30111-3. doi: 10.1016/j.ajhg.2018.03.022. [Epub ahead of print]

PMID:
29754768
3.

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H.

Am J Hum Genet. 2017 Oct 5;101(4):525-538. doi: 10.1016/j.ajhg.2017.08.015. Epub 2017 Sep 21.

4.

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001605. doi: 10.1161/CIRCGENETICS.116.001605.

5.

Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"

Crotti L, Lahtinen AM, Spazzolini C, Mastantuono E, Cristina Monti M, Morassutto C, Parati G, Heradien M, Goosen A, Lichtner P, Meitinger T, Brink PA, Kontula K, Swan H, Schwartz PJ.

Circ Cardiovasc Genet. 2016 Dec;9(6):581-582. doi: 10.1161/CIRCGENETICS.116.001635. No abstract available.

6.

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

Crotti L, Lahtinen AM, Spazzolini C, Mastantuono E, Monti MC, Morassutto C, Parati G, Heradien M, Goosen A, Lichtner P, Meitinger T, Brink PA, Kontula K, Swan H, Schwartz PJ.

Circ Cardiovasc Genet. 2016 Aug;9(4):330-9. doi: 10.1161/CIRCGENETICS.116.001419.

7.

The genetics underlying acquired long QT syndrome: impact for genetic screening.

Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.

Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28.

8.

Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr.

Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.

9.

[Clinical conditions associated with abnormal QT interval: clinical implications].

Crotti L, Dossena C, Mastantuono E, Dagradi F, Schwartz PJ.

G Ital Cardiol (Rome). 2013 Jan;14(1):55-65. doi: 10.1714/1207.13373. Review. Italian.

PMID:
23258205
10.

[Surveillance system OKkio alla SALUTE: the role of primary school in the promotion of healthy life style--results in 2008].

Lamberti A, Spinelli A, Baglio G, Nardone P, Silani MT, Mastantuono E, Teti S, Menzano MT, Galeone D; Gruppo OKkio alla SALUTE 2008.

Ann Ig. 2010 Nov-Dec;22(6):555-62. Italian.

PMID:
21425652

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