-
1
-
-
0035830365
-
-
Schwartz, P.J., Priori, S.G., Spazzolini, C., Moss, A.J., Vincent, G.M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M.T., Towbin, J.A., Beggs, A.H., Brink, P., Wilde, A.A., Toivonen, L., Zareba, W., Robinson, J.L., Timothy, K.W., Corfield, V., Wattanasirichaigoon, D., Corbett, C., Haverkamp, W., Schulze-Bahr, E., Lehmann, M.H., Schwartz, K., Cournel, P., Bloise, R. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103: 89-95.
-
Schwartz, P.J., Priori, S.G., Spazzolini, C., Moss, A.J., Vincent, G.M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M.T., Towbin, J.A., Beggs, A.H., Brink, P., Wilde, A.A., Toivonen, L., Zareba, W., Robinson, J.L., Timothy, K.W., Corfield, V., Wattanasirichaigoon, D., Corbett, C., Haverkamp, W., Schulze-Bahr, E., Lehmann, M.H., Schwartz, K., Cournel, P., Bloise, R. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001, 103: 89-95.
-
-
-
-
2
-
-
0038415858
-
Risk stratification in the long-QT syndrome
-
Priori, S.G., Schwartz, P.J., Napolitano, C., Bloise, R., Ronchetti, E., Grillo, M., Vicentini, A., Spazzolini, C., Nastoli, J., Bottelli, G., Folli, R., Cappelletti, D. Risk stratification in the long-QT syndrome. N. Engl. J. Med. 2003, 348: 1866-1874.
-
(2003)
N. Engl. J. Med
, vol.348
, pp. 1866-1874
-
-
Priori, S.G.1
Schwartz, P.J.2
Napolitano, C.3
Bloise, R.4
Ronchetti, E.5
Grillo, M.6
Vicentini, A.7
Spazzolini, C.8
Nastoli, J.9
Bottelli, G.10
Folli, R.11
Cappelletti, D.12
-
3
-
-
4544387969
-
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
-
Priori, S.G., Napolitano, C., Schwartz, P.J., Grillo, M., Bloise, R., Ronchetti, E., Moncalvo, C., Tulipani, C., Veia, A., Bottelli, G., Nastoli, J. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004, 292: 1341-1344.
-
(2004)
JAMA
, vol.292
, pp. 1341-1344
-
-
Priori, S.G.1
Napolitano, C.2
Schwartz, P.J.3
Grillo, M.4
Bloise, R.5
Ronchetti, E.6
Moncalvo, C.7
Tulipani, C.8
Veia, A.9
Bottelli, G.10
Nastoli, J.11
-
4
-
-
1042268063
-
Inherited arrhythmogenic diseases: The complexity beyond monogenic disorders
-
Priori, S.G. Inherited arrhythmogenic diseases: the complexity beyond monogenic disorders. Circ. Res. 2004, 94: 140-145.
-
(2004)
Circ. Res
, vol.94
, pp. 140-145
-
-
Priori, S.G.1
-
5
-
-
27444442331
-
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population
-
Brink, P.A., Crotti, L., Corfield, V., Goosen, A., Durrheim, G., Hedley, P., Heradien, M., Geldenhuys, G., Vanoli, E., Bacchini, S., Spazzolini, C., Lundquist, A.L., Roden, D.M., George, A.L., Jr., Schwartz, P.J.. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation 2005, 112: 2602-2610.
-
(2005)
Circulation
, vol.112
, pp. 2602-2610
-
-
Brink, P.A.1
Crotti, L.2
Corfield, V.3
Goosen, A.4
Durrheim, G.5
Hedley, P.6
Heradien, M.7
Geldenhuys, G.8
Vanoli, E.9
Bacchini, S.10
Spazzolini, C.11
Lundquist, A.L.12
Roden, D.M.13
George Jr., A.L.14
Schwartz, P.J.15
-
6
-
-
1042298047
-
Trafficking and functional expression of cardiac Na+ channels
-
Herfst, L.J., Rook, M.B., Jongsma, H.J. Trafficking and functional expression of cardiac Na+ channels. J. Mol. Cell. Cardiol. 2004, 36: 185-193.
-
(2004)
J. Mol. Cell. Cardiol
, vol.36
, pp. 185-193
-
-
Herfst, L.J.1
Rook, M.B.2
Jongsma, H.J.3
-
7
-
-
0035940747
-
Genetic manipulation of cardiac K(+) channel function in mice: What have we learned, and where do we go from here?
-
Nerbonne, J.M., Nichols, C.G., Schwarz, T.L., Escande, D. Genetic manipulation of cardiac K(+) channel function in mice: what have we learned, and where do we go from here? Circ. Res. 2001, 89: 944-956.
-
(2001)
Circ. Res
, vol.89
, pp. 944-956
-
-
Nerbonne, J.M.1
Nichols, C.G.2
Schwarz, T.L.3
Escande, D.4
-
8
-
-
1542298958
-
Pharmacology of cardiac potassium channels
-
Tamargo, J., Caballero, R., Gomez, R., Valenzuela, C., Delpon, E. Pharmacology of cardiac potassium channels. Cardiovasc. Res. 2004, 62: 9-33.
-
(2004)
Cardiovasc. Res
, vol.62
, pp. 9-33
-
-
Tamargo, J.1
Caballero, R.2
Gomez, R.3
Valenzuela, C.4
Delpon, E.5
-
9
-
-
0029093803
-
Nonreentrant mechanisms underlying spontaneous ventricular arrhythmias in a model of nonischemic heart failure in. rabbits
-
Pogwizd, S.M. Nonreentrant mechanisms underlying spontaneous ventricular arrhythmias in a model of nonischemic heart failure in. rabbits. Circulation 1995, 92: 1034-1048.
-
(1995)
Circulation
, vol.92
, pp. 1034-1048
-
-
Pogwizd, S.M.1
-
10
-
-
0035936792
-
The genetic basis for cardiomyopathy: From mutation identification to mechanistic paradigms
-
Seidman, J.G., Seidman, C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001, 104: 557-567.
-
(2001)
Cell
, vol.104
, pp. 557-567
-
-
Seidman, J.G.1
Seidman, C.2
-
11
-
-
0029083650
-
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults
-
Maron, B.J., Gardin, J.M., Flack, J.M., Gidding, S.S., Kurosaki, T.T., Bild, D.E. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995, 92: 785-789.
-
(1995)
Circulation
, vol.92
, pp. 785-789
-
-
Maron, B.J.1
Gardin, J.M.2
Flack, J.M.3
Gidding, S.S.4
Kurosaki, T.T.5
Bild, D.E.6
-
12
-
-
0037070514
-
Hypertrophic cardiomyopathy: A systematic review
-
Maron, B.J. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002, 287:1308-1320.
-
(2002)
JAMA
, vol.287
, pp. 1308-1320
-
-
Maron, B.J.1
-
13
-
-
0032949682
-
Molecular mechanisms of myocardial remodeling
-
Swynghedauw, B. Molecular mechanisms of myocardial remodeling. Physiol. Rev. 1999, 79: 215-262.
-
(1999)
Physiol. Rev
, vol.79
, pp. 215-262
-
-
Swynghedauw, B.1
-
14
-
-
39749149703
-
A genetic framework for improving arrhythmia therapy
-
Knollmann, B.C., Roden, D.M. A genetic framework for improving arrhythmia therapy. Nature 2008, 451: 929-936.
-
(2008)
Nature
, vol.451
, pp. 929-936
-
-
Knollmann, B.C.1
Roden, D.M.2
-
15
-
-
0032127222
-
Characteristics of wave fronts during ventricular fibrillation in human hearts with dilated cardiomyopathy: Role of increased fibrosis in the generation of reentry
-
Wu, T.J., Ong, J.J., Hwang, C., Lee, J.J., Fishbein, M.C., Czer, L., Trento, A., Blanche, C., Kass, R.M., Mandel, W.J., Karagueuzian, H.S., Chen, P.S. Characteristics of wave fronts during ventricular fibrillation in human hearts with dilated cardiomyopathy: role of increased fibrosis in the generation of reentry. J. Am. Coll. Cardiol. 1998, 32: 187-196.
-
(1998)
J. Am. Coll. Cardiol
, vol.32
, pp. 187-196
-
-
Wu, T.J.1
Ong, J.J.2
Hwang, C.3
Lee, J.J.4
Fishbein, M.C.5
Czer, L.6
Trento, A.7
Blanche, C.8
Kass, R.M.9
Mandel, W.J.10
Karagueuzian, H.S.11
Chen, P.S.12
-
16
-
-
0031052480
-
The management of hypertrophic cardiomyopathy
-
Spirito, P., Seidman, C.E., McKenna, W.J., Maron, B.J. The management of hypertrophic cardiomyopathy. N. Engl. J. Med. 1997, 336: 775-785.
-
(1997)
N. Engl. J. Med
, vol.336
, pp. 775-785
-
-
Spirito, P.1
Seidman, C.E.2
McKenna, W.J.3
Maron, B.J.4
-
17
-
-
29144506700
-
Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia
-
Wolf, C.M., Moskowitz, I.P., Arno, S., Branco, D.M., Semsarian, C., Bernstein, S.A., Peterson, M., Maida, M., Morley, G.E., Fishman, G., Berul, C.I., Seidman, C.E., Seidman, J.G. Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. Proc. Natl. Acad. Sci. USA 2005, 102: 18123-18128.
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 18123-18128
-
-
Wolf, C.M.1
Moskowitz, I.P.2
Arno, S.3
Branco, D.M.4
Semsarian, C.5
Bernstein, S.A.6
Peterson, M.7
Maida, M.8
Morley, G.E.9
Fishman, G.10
Berul, C.I.11
Seidman, C.E.12
Seidman, J.G.13
-
18
-
-
0025929695
-
Remodeling of the heart in chronic pressure overload
-
Swynghedauw, B. Remodeling of the heart in chronic pressure overload. Basic. Res. Cardiol. 1991, 86(Suppl 1): 99-105.
-
(1991)
Basic. Res. Cardiol
, vol.86
, Issue.SUPPL. 1
, pp. 99-105
-
-
Swynghedauw, B.1
-
19
-
-
0033653534
-
An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy
-
Fatkin, D., McConnell, B.K., Mudd, J.O., Semsarian, C., Moskowitz, I.G., Sohoen, F.J., Giewat, M., Seidman, C.E., Seidman, J.G. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. J Clin. Invest. 2000, 106: 1351-1359.
-
(2000)
J Clin. Invest
, vol.106
, pp. 1351-1359
-
-
Fatkin, D.1
McConnell, B.K.2
Mudd, J.O.3
Semsarian, C.4
Moskowitz, I.G.5
Sohoen, F.J.6
Giewat, M.7
Seidman, C.E.8
Seidman, J.G.9
-
20
-
-
0037423876
-
2+-dependent action potential remodeling
-
2+-dependent action potential remodeling. Circ. Res. 2003, 92: 428-436.
-
(2003)
Circ. Res
, vol.92
, pp. 428-436
-
-
Knollmann, B.C.1
Kirchhof, P.2
Sirenko, S.G.3
Degen, H.4
Greene, A.E.5
Schober, T.6
Mackow, J.C.7
Fabritz, L.8
Potter, J.D.9
Morad, M.10
-
21
-
-
0037050022
-
The failing heart
-
Towbin, J.A., Bowles, N.E. The failing heart. Nature 2002, 415: 227-233.
-
(2002)
Nature
, vol.415
, pp. 227-233
-
-
Towbin, J.A.1
Bowles, N.E.2
-
22
-
-
0033520037
-
Desmin mutation responsible for idiopathic dilated cardiomyopathy
-
Li, D., Tapscoft, T., Gonzalez, O., Burch, P.E., Quinones, M.A., Zoghbi, W.A., Hill, R., Bachinski, L.L., Mann, D.L., Roberts, R. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 1999, 100: 461-464.
-
(1999)
Circulation
, vol.100
, pp. 461-464
-
-
Li, D.1
Tapscoft, T.2
Gonzalez, O.3
Burch, P.E.4
Quinones, M.A.5
Zoghbi, W.A.6
Hill, R.7
Bachinski, L.L.8
Mann, D.L.9
Roberts, R.10
-
23
-
-
0038215386
-
Do stretch-induced changes in intracellular calcium modify the electrical activity of cardiac muscle?
-
Calaghan, S.C., Belus, A., White, E. Do stretch-induced changes in intracellular calcium modify the electrical activity of cardiac muscle? Prog. Biophys. Mol. Biol. 2003, 82: 81-95.
-
(2003)
Prog. Biophys. Mol. Biol
, vol.82
, pp. 81-95
-
-
Calaghan, S.C.1
Belus, A.2
White, E.3
-
24
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomat recessive Emery-Dreifuss muscular dystrophy
-
Raffaele, D.B., Ricci, E., Galluzzi, G., Tonali, P., Mora, M., Morandi, L., Romorini, A., Voit, T., Orstavik, K.H., Merlini, L., Trevisan, C., Biancalana, V., Housmanowa-Petrusewicz, I., Bione, S., Ricotti, R., Schwartz, K., Bonne, G., Toniolo, D. Different mutations in the LMNA gene cause autosomal dominant and autosomat recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 2000, 66: 1407-1412.
-
(2000)
Am. J. Hum. Genet
, vol.66
, pp. 1407-1412
-
-
Raffaele, D.B.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
Romorini, A.7
Voit, T.8
Orstavik, K.H.9
Merlini, L.10
Trevisan, C.11
Biancalana, V.12
Housmanowa-Petrusewicz, I.13
Bione, S.14
Ricotti, R.15
Schwartz, K.16
Bonne, G.17
Toniolo, D.18
-
25
-
-
2542423005
-
Lamin A/C truncation in dilated cardiomyopathy with conduction disease
-
MacLeod, H.M., Culley, M.R., Huber, J.M., McNally, E.M. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC. Med. Genet. 2003, 4:4.
-
(2003)
BMC. Med. Genet
, vol.4
, pp. 4
-
-
MacLeod, H.M.1
Culley, M.R.2
Huber, J.M.3
McNally, E.M.4
-
26
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system-disease
-
Fatkin D., MacRae, C., Sasaki, T., Wolff, M.R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H.J., Jr., Spudich, S., De Girolami, U., Seidman, J.G., Seidman, C., Muntoni, F., Muehle, G., Johnson, W., McDonough, B. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system-disease. N. Engl. J. Med. 1999, 341: 1715-1725.
-
(1999)
N. Engl. J. Med
, vol.341
, pp. 1715-1725
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
Atherton, J.7
Vidaillet Jr., H.J.8
Spudich, S.9
De Girolami, U.10
Seidman, J.G.11
Seidman, C.12
Muntoni, F.13
Muehle, G.14
Johnson, W.15
McDonough, B.16
-
27
-
-
18344380431
-
Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
-
Arbustini, E., Pilotto, A., Repetto, A., Grasso, M., Negri, A., Diegoli, M., Camapana, C., Scelsi, L., Baldini, E., Gavazzi, A., Tavazzi, L. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J. Am. Coll. Cardiol. 2002, 39, 981-990.
-
(2002)
J. Am. Coll. Cardiol
, vol.39
, pp. 981-990
-
-
Arbustini, E.1
Pilotto, A.2
Repetto, A.3
Grasso, M.4
Negri, A.5
Diegoli, M.6
Camapana, C.7
Scelsi, L.8
Baldini, E.9
Gavazzi, A.10
Tavazzi, L.11
-
28
-
-
0042736696
-
LMNA mutations in atypical Werner's syndrome
-
Chen L., Lee L., Kudlow B.A., Dos Santos, H.G., Sletvold, O., Shafeghati, Y., Botha, E.G., Garg, A., Hanson, N.B., Martin, G.M., Mian, I.S., Kennedy, B.K., Oshima, J. LMNA mutations in atypical Werner's syndrome. Lancet 2003, 362: 440-445.
-
(2003)
Lancet
, vol.362
, pp. 440-445
-
-
Chen, L.1
Lee, L.2
Kudlow, B.A.3
Dos Santos, H.G.4
Sletvold, O.5
Shafeghati, Y.6
Botha, E.G.7
Garg, A.8
Hanson, N.B.9
Martin, G.M.10
Mian, I.S.11
Kennedy, B.K.12
Oshima, J.13
-
29
-
-
39149083716
-
Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease
-
Wolf, C.M., Wang, L., Alcalai, R., Pizard, A., Burgon, P.G., Ahmad, F., Sherwood, M., Branco, D.M., Wakimoto, H., Fishman, G.I., See, V., Stewart, C.L., Conner, D.A., Berul, C.I., Seidman, C.E., Seidman, J.G. Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease. J. Mol. Cell. Cardiol. 2008, 44: 293-303.
-
(2008)
J. Mol. Cell. Cardiol
, vol.44
, pp. 293-303
-
-
Wolf, C.M.1
Wang, L.2
Alcalai, R.3
Pizard, A.4
Burgon, P.G.5
Ahmad, F.6
Sherwood, M.7
Branco, D.M.8
Wakimoto, H.9
Fishman, G.I.10
See, V.11
Stewart, C.L.12
Conner, D.A.13
Berul, C.I.14
Seidman, C.E.15
Seidman, J.G.16
-
30
-
-
0035253502
-
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
-
Tiso, N., Stephan, D.A., Nava, A., Bagattin, A., Devaney, J.M., Stanehi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G.A., Rampazzo, A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 2001, 10: 189-194.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 189-194
-
-
Tiso, N.1
Stephan, D.A.2
Nava, A.3
Bagattin, A.4
Devaney, J.M.5
Stanehi, F.6
Larderet, G.7
Brahmbhatt, B.8
Brown, K.9
Bauce, B.10
Muriago, M.11
Basso, C.12
Thiene, G.13
Danieli, G.A.14
Rampazzo, A.15
-
31
-
-
0023848617
-
Right ventricular cardiomyopathy and sudden death in young people
-
Thiene, G., Nava, A., Corrado, D., Rossi, L., Pennelli, N. Right ventricular cardiomyopathy and sudden death in young people. N. Engl. J. Med. 1988, 318: 129-133.
-
(1988)
N. Engl. J. Med
, vol.318
, pp. 129-133
-
-
Thiene, G.1
Nava, A.2
Corrado, D.3
Rossi, L.4
Pennelli, N.5
-
32
-
-
0037294904
-
Genetics of arrhythmogenic right ventricular cardiomyopathy - status quo and future perspectives
-
Paul, M., Schulze-Bahr, E., Breithardt, G., Wichter, T. Genetics of arrhythmogenic right ventricular cardiomyopathy - status quo and future perspectives. Z. Kardiol. 2003, 92: 128-136.
-
(2003)
Z. Kardiol
, vol.92
, pp. 128-136
-
-
Paul, M.1
Schulze-Bahr, E.2
Breithardt, G.3
Wichter, T.4
-
33
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
McKoy, G., Protonotarios, N., Crosby, A., Tsatsopoulou, A., Anastasakis, A., Coonar, A., Norman, M., Baboonian, C., Jeffery, S., McKenna, W.J. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000, 355: 2119-2124.
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
Tsatsopoulou, A.4
Anastasakis, A.5
Coonar, A.6
Norman, M.7
Baboonian, C.8
Jeffery, S.9
McKenna, W.J.10
-
34
-
-
18644363134
-
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
-
Rampazzo, A., Nava, A., Malacrida, S., Beffagna, G., Bauce, B., Rossi, V., Zimbello, R., Simionati, B., Basso, C., Thiene, G., Towbin, J.A., Danieli, G.A. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2002, 71: 1200-1206.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 1200-1206
-
-
Rampazzo, A.1
Nava, A.2
Malacrida, S.3
Beffagna, G.4
Bauce, B.5
Rossi, V.6
Zimbello, R.7
Simionati, B.8
Basso, C.9
Thiene, G.10
Towbin, J.A.11
Danieli, G.A.12
-
35
-
-
0034326902
-
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiompathy, woolly hair and keratoderma
-
Norgett, E.E., Hatsell, S.J., Carvajal-Huerta, L., Cabezas, J.C., Common, J., Purkis, P.E., Whittock, N., Leigh, I.M., Stevens, H.P., Kelsell, D.P. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiompathy, woolly hair and keratoderma. Hum. Mol. Genet. 2000, 9: 2761-2766.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 2761-2766
-
-
Norgett, E.E.1
Hatsell, S.J.2
Carvajal-Huerta, L.3
Cabezas, J.C.4
Common, J.5
Purkis, P.E.6
Whittock, N.7
Leigh, I.M.8
Stevens, H.P.9
Kelsell, D.P.10
-
36
-
-
33645787474
-
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2
-
Dalal, D., Molin, L.H., Piccini, J., Tichnell, C., James, C., Bomma, C., Prakasa, K., Towbin, J.A., Marcus, F.I., Spevak, P.J., Bluemke, D.A., Abraham, T., Russell, S.D., Calkins, H., Judge, D.P. Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. Circulation 2006, 113: 1641-1649.
-
(2006)
Circulation
, vol.113
, pp. 1641-1649
-
-
Dalal, D.1
Molin, L.H.2
Piccini, J.3
Tichnell, C.4
James, C.5
Bomma, C.6
Prakasa, K.7
Towbin, J.A.8
Marcus, F.I.9
Spevak, P.J.10
Bluemke, D.A.11
Abraham, T.12
Russell, S.D.13
Calkins, H.14
Judge, D.P.15
-
37
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes
-
KVLQTI, HERG, SCN5A, KCNE1, and KCNE2, 102
-
Splawski, I., Shen, J., Timothy, K.W., Lehmann, M.H., Priori, S., Robinson, J.L., Moss, A.J., Schwartz, P.J., Towbin, J.A., Vincent, G.M., Keating, M.T. Spectrum of mutations in long-QT syndrome genes. KVLQTI, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102: 1178-1185.
-
Circulation
, vol.2000
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
Lehmann, M.H.4
Priori, S.5
Robinson, J.L.6
Moss, A.J.7
Schwartz, P.J.8
Towbin, J.A.9
Vincent, G.M.10
Keating, M.T.11
-
38
-
-
0030799943
-
Properties of KvLQT1 K+ channel mutations in Romano-Ward-and Jervell and Lange-Nielsen inherited cardiac arrhythmias
-
Chouabe, C., Neyroud, N., Guicheney, P., Lazdunski, M., Romey, G., Barhanin, J. Properties of KvLQT1 K+ channel mutations in Romano-Ward-and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J. 1997, 16: 5472-5479.
-
(1997)
EMBO J
, vol.16
, pp. 5472-5479
-
-
Chouabe, C.1
Neyroud, N.2
Guicheney, P.3
Lazdunski, M.4
Romey, G.5
Barhanin, J.6
-
39
-
-
0030796370
-
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome
-
Shalaby, F.Y., Levesque, P.C., Yang, W.P., Little, W.A., Conder, M.L., Jenkins-West, T., Blanar, M.A. Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 1997, 96: 1733-1736.
-
(1997)
Circulation
, vol.96
, pp. 1733-1736
-
-
Shalaby, F.Y.1
Levesque, P.C.2
Yang, W.P.3
Little, W.A.4
Conder, M.L.5
Jenkins-West, T.6
Blanar, M.A.7
-
40
-
-
0030782276
-
Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias
-
Wollnik, B., Schroeder, B.C., Kubisch, C., Esperer, H.D., Wieacker, P., Jentsch, T.J. Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias. Hum. Mol. Genet. 1997, 6: 1943-1949.
-
(1997)
Hum. Mol. Genet
, vol.6
, pp. 1943-1949
-
-
Wollnik, B.1
Schroeder, B.C.2
Kubisch, C.3
Esperer, H.D.4
Wieacker, P.5
Jentsch, T.J.6
-
41
-
-
0029925480
-
Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia
-
Sanguinetti, M.C., Curran, M.E., Spector, P.S., Keating, M.T. Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia. Proc. Natl. Acad Sci. USA 1996, 93: 2208-2212.
-
(1996)
Proc. Natl. Acad Sci. USA
, vol.93
, pp. 2208-2212
-
-
Sanguinetti, M.C.1
Curran, M.E.2
Spector, P.S.3
Keating, M.T.4
-
42
-
-
0029097799
-
Molecular mechanism for an inherited cardiac arrhythmia
-
Bennett, P.B., Yazawa, K., Makita, N., George, A.L., Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995, 376: 683-685.
-
(1995)
Nature
, vol.376
, pp. 683-685
-
-
Bennett, P.B.1
Yazawa, K.2
Makita, N.3
George Jr., A.L.4
-
43
-
-
0029988774
-
Multiple mechanisms of Na+ channel-linked long-QT syndrome
-
Dumaine, R., Wang, Q., Keating, M.T., Hartmann, H.A., Schwartz, P.J., Brown, A.M., Kirsch, G.E. Multiple mechanisms of Na+ channel-linked long-QT syndrome. Circ. Res. 1996, 78: 916-924.
-
(1996)
Circ. Res
, vol.78
, pp. 916-924
-
-
Dumaine, R.1
Wang, Q.2
Keating, M.T.3
Hartmann, H.A.4
Schwartz, P.J.5
Brown, A.M.6
Kirsch, G.E.7
-
44
-
-
75549109609
-
-
Romano, C., Gemme, G., Pongiglione, R. Aritmiecardiache rare dell'eta pediatrica, II: accessi sincopali per fibrillazione ventricolare parossitica. Clin. Pediatr. 1963, 45: 656-683.
-
Romano, C., Gemme, G., Pongiglione, R. Aritmiecardiache rare dell'eta pediatrica, II: accessi sincopali per fibrillazione ventricolare parossitica. Clin. Pediatr. 1963, 45: 656-683.
-
-
-
-
45
-
-
0031054075
-
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
-
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Faure, S., Gary, F., Coumel, P., Petit, C., Schwartz, K., Guichency, P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 1997, 15: 186-189.
-
(1997)
Nat. Genet
, vol.15
, pp. 186-189
-
-
Neyroud, N.1
Tesson, F.2
Denjoy, I.3
Leibovici, M.4
Donger, C.5
Barhanin, J.6
Faure, S.7
Gary, F.8
Coumel, P.9
Petit, C.10
Schwartz, K.11
Guichency, P.12
-
46
-
-
0030461289
-
Inner ear defects induced by null mutation of the isk gene
-
Vetter, D.E., Mann, J.R., Wangemann, P., Liu, J., McLaughlin, K.J., Lesage, P., Marcus, D.C., Lazdunski, M., Heinemann, S.F., Barhanin, J. Inner ear defects induced by null mutation of the isk gene. Neuron 1996, 17: 1251-1264.
-
(1996)
Neuron
, vol.17
, pp. 1251-1264
-
-
Vetter, D.E.1
Mann, J.R.2
Wangemann, P.3
Liu, J.4
McLaughlin, K.J.5
Lesage, P.6
Marcus, D.C.7
Lazdunski, M.8
Heinemann, S.F.9
Barhanin, J.10
-
47
-
-
0242464931
-
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
-
Mohler, P.J., Schott, J.J., Gramolini, A.O., Dilly, K.W., Guatimosim, S., DuBell, W.H., Song, L.S., Haurogne, K., Kyndt, F., Ali, M.E., Rogers, T.B., Lederer, W.J., Escande, D., Le Marec, H., Bennett, V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003, 421: 634-639.
-
(2003)
Nature
, vol.421
, pp. 634-639
-
-
Mohler, P.J.1
Schott, J.J.2
Gramolini, A.O.3
Dilly, K.W.4
Guatimosim, S.5
DuBell, W.H.6
Song, L.S.7
Haurogne, K.8
Kyndt, F.9
Ali, M.E.10
Rogers, T.B.11
Lederer, W.J.12
Escande, D.13
Le Marec, H.14
Bennett, V.15
-
48
-
-
0034599086
-
Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout mice
-
Chauhan, V.S., Tuvia, S., Buhusi, M., Bennett, V., Grant, A.O. Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout mice. Circ. Res. 2000, 86: 441-447.
-
(2000)
Circ. Res
, vol.86
, pp. 441-447
-
-
Chauhan, V.S.1
Tuvia, S.2
Buhusi, M.3
Bennett, V.4
Grant, A.O.5
-
49
-
-
0028298042
-
Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil, R., Ptacek, L.J., Pavlakis, S.G., DeVivo, D.C., Penn, A.S., Ozdemir, C., Griggs, R.C. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann. Neurol. 1994, 35: 326-330.
-
(1994)
Ann. Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
DeVivo, D.C.4
Penn, A.S.5
Ozdemir, C.6
Griggs, R.C.7
-
50
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster, N.M., Tawil, R., Tristani-Firouzi, M., Canun, S., Bendahhou, S., Tsunoda, A., Donaldson, M.R., Iannaccone, S.T., Brunt, E., Barohn, R., Clark, J., Deymeer, F., George, A.L., Jr., Fish, F.A., Hahn, A., Nitu, A., Ozdemir, C., Serdaroglu, P., Subramony, S.H., Wolfe, G., Fu, Y.H., Ptacek, L.J. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105: 511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
Donaldson, M.R.7
Iannaccone, S.T.8
Brunt, E.9
Barohn, R.10
Clark, J.11
Deymeer, F.12
George Jr., A.L.13
Fish, F.A.14
Hahn, A.15
Nitu, A.16
Ozdemir, C.17
Serdaroglu, P.18
Subramony, S.H.19
Wolfe, G.20
Fu, Y.H.21
Ptacek, L.J.22
more..
-
51
-
-
5344223383
-
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski, L., Timothy, K.W., Sharpe, L.M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P.J., Joseph, R.M., Condouris, K., Tager-Flusberg, H., Priori, S.G., Sanguinetti, M.C., Keating, M.T. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004, 119: 19-31.
-
(2004)
Cell
, vol.119
, pp. 19-31
-
-
Splawski, L.1
Timothy, K.W.2
Sharpe, L.M.3
Decher, N.4
Kumar, P.5
Bloise, R.6
Napolitano, C.7
Schwartz, P.J.8
Joseph, R.M.9
Condouris, K.10
Tager-Flusberg, H.11
Priori, S.G.12
Sanguinetti, M.C.13
Keating, M.T.14
-
52
-
-
33751016041
-
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
-
Vatta, M., Ackerman, M.J., Ye, B., Makielski, J.C., Ughanze, E.E., Taylor, E.W., Tester, D.J., Balijepalli, R.C., Foell, J.D., Li, Z., Kamp, T.J., Towbin, J.A. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006, 114: 2104-2112.
-
(2006)
Circulation
, vol.114
, pp. 2104-2112
-
-
Vatta, M.1
Ackerman, M.J.2
Ye, B.3
Makielski, J.C.4
Ughanze, E.E.5
Taylor, E.W.6
Tester, D.J.7
Balijepalli, R.C.8
Foell, J.D.9
Li, Z.10
Kamp, T.J.11
Towbin, J.A.12
-
53
-
-
34447307435
-
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
-
Medeiros-Domingo, A., Kaku, T., Tester, D.J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M.T., Makielski, J.C., Ackerman, M.J. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007, 116: 134-142.
-
(2007)
Circulation
, vol.116
, pp. 134-142
-
-
Medeiros-Domingo, A.1
Kaku, T.2
Tester, D.J.3
Iturralde-Torres, P.4
Itty, A.5
Ye, B.6
Valdivia, C.7
Ueda, K.8
Canizales-Quinteros, S.9
Tusie-Luna, M.T.10
Makielski, J.C.11
Ackerman, M.J.12
-
54
-
-
1942534554
-
Compound mutations: A common cause of severe long-QT syndrome
-
Westenskow, P., Splawski, I., Timothy, K.W., Keating, M.T., San-guinetti, M.C. Compound mutations: a common cause of severe long-QT syndrome. Circulation 2004, 109: 1834-1841.
-
(2004)
Circulation
, vol.109
, pp. 1834-1841
-
-
Westenskow, P.1
Splawski, I.2
Timothy, K.W.3
Keating, M.T.4
San-guinetti, M.C.5
-
55
-
-
24644515300
-
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome
-
Crotti, L., Lundquist, A.L., Insolia, R., Pedrazzini, M., Ferrandi, C., De Ferrari, G.M., Vicentini, A., Yang, P., Roden, D.M., George, A.L., Jr., Schwartz, P.J. KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation 2005, 112: 1251-1258.
-
(2005)
Circulation
, vol.112
, pp. 1251-1258
-
-
Crotti, L.1
Lundquist, A.L.2
Insolia, R.3
Pedrazzini, M.4
Ferrandi, C.5
De Ferrari, G.M.6
Vicentini, A.7
Yang, P.8
Roden, D.M.9
George Jr., A.L.10
Schwartz, P.J.11
-
56
-
-
0035040834
-
Pharmacogenetics and drug-induced arrhythmias
-
Roden, D.M. Pharmacogenetics and drug-induced arrhythmias. Cardiovasc. Res. 2001, 50: 224-231.
-
(2001)
Cardiovasc. Res
, vol.50
, pp. 224-231
-
-
Roden, D.M.1
-
57
-
-
0032552038
-
Mechanisms and management of proarrhythmia
-
Roden, D.M. Mechanisms and management of proarrhythmia. Am. J. Cardiol. 1998, 82: 491-571.
-
(1998)
Am. J. Cardiol
, vol.82
, pp. 491-571
-
-
Roden, D.M.1
-
58
-
-
0026466921
-
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
-
Brugada, P., Brugada, J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J. Am. Coll. Cardiol. 1992, 20: 1391-1396.
-
(1992)
J. Am. Coll. Cardiol
, vol.20
, pp. 1391-1396
-
-
Brugada, P.1
Brugada, J.2
-
59
-
-
0034932477
-
The Brugada syndrome: Diagnostic criteria and cellular mechanisms
-
Antzelevitch, C. The Brugada syndrome: diagnostic criteria and cellular mechanisms. Eur. Heart J. 2001, 22: 356-363.
-
(2001)
Eur. Heart J
, vol.22
, pp. 356-363
-
-
Antzelevitch, C.1
-
60
-
-
0033537470
-
Brugada syndrome: Clinical data and suggested pathophysiological mechanism
-
Alings, M., Wilde, A. "Brugada" syndrome: clinical data and suggested pathophysiological mechanism. Circulation 1999, 99: 666-673.
-
(1999)
Circulation
, vol.99
, pp. 666-673
-
-
Alings, M.1
Wilde, A.2
-
61
-
-
0037133593
-
Natural history of Brugada syndrome: Insights for risk stratification and management
-
Priori, S.G., Napolitano, C., Gasparani, M., Pappone, C., Della, B.P., Giordano, U., Bloise, R., Giustetto, C., De Nardis, R., Grillo, M., Ronchetti, E., Faggiano, G., Nastoli, J. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 2002, 105: 1342-1347.
-
(2002)
Circulation
, vol.105
, pp. 1342-1347
-
-
Priori, S.G.1
Napolitano, C.2
Gasparani, M.3
Pappone, C.4
Della, B.P.5
Giordano, U.6
Bloise, R.7
Giustetto, C.8
De Nardis, R.9
Grillo, M.10
Ronchetti, E.11
Faggiano, G.12
Nastoli, J.13
-
62
-
-
0038059082
-
Cardiac sodium channel diseases
-
Napolitano, C., Rivolta, I., Priori, S.G. Cardiac sodium channel diseases. Clin. Chem. Lab. Med. 2003, 41: 439-444.
-
(2003)
Clin. Chem. Lab. Med
, vol.41
, pp. 439-444
-
-
Napolitano, C.1
Rivolta, I.2
Priori, S.G.3
-
63
-
-
36049001507
-
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
-
London, B., Michalec, M., Mchdi, H., Zhu, X., Kerchner, L., Sanyal, S., Viswanathan, P.C., Pfahnl, A.E., Shang, L.L., Madhusudanan, M., Baty, C.J., Lagana, S., Alcong, R., Gutmann, R., Ackerman, M.J., McNamara, D.M., Weiss, R., Dudley, S.C., Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias, Circulation 2007, 116; 2260-2268.
-
(2007)
Circulation
, vol.116
, pp. 2260-2268
-
-
London, B.1
Michalec, M.2
Mchdi, H.3
Zhu, X.4
Kerchner, L.5
Sanyal, S.6
Viswanathan, P.C.7
Pfahnl, A.E.8
Shang, L.L.9
Madhusudanan, M.10
Baty, C.J.11
Lagana, S.12
Alcong, R.13
Gutmann, R.14
Ackerman, M.J.15
McNamara, D.M.16
Weiss, R.17
Dudley Jr., S.C.18
-
64
-
-
0028957403
-
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients
-
Leenhardt, A., Lucet, V., Denjoy, L., Grau, F., Ngoc, D.D., Coumel, P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995, 91: 1512-1519.
-
(1995)
Circulation
, vol.91
, pp. 1512-1519
-
-
Leenhardt, A.1
Lucet, V.2
Denjoy, L.3
Grau, F.4
Ngoc, D.D.5
Coumel, P.6
-
65
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
Priori, S.G., Napolitano, C., Memmi, M., Colombi, B., Drago, F., Gasparini, M., DeSimone, L., Coltorti, F., Bloise, R., Keegan, R., Cruz Filho, F.E., Vignati, G., Benatar, A., DeLogu, A. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002, 106: 69-74.
-
(2002)
Circulation
, vol.106
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
Colombi, B.4
Drago, F.5
Gasparini, M.6
DeSimone, L.7
Coltorti, F.8
Bloise, R.9
Keegan, R.10
Cruz Filho, F.E.11
Vignati, G.12
Benatar, A.13
DeLogu, A.14
-
66
-
-
0035895322
-
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
-
Priori, S.G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., Danich, G.A. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001, 103: 196-200.
-
(2001)
Circulation
, vol.103
, pp. 196-200
-
-
Priori, S.G.1
Napolitano, C.2
Tiso, N.3
Memmi, M.4
Vignati, G.5
Bloise, R.6
Sorrentino, V.7
Danich, G.A.8
-
67
-
-
0035205336
-
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
-
Lahat, H., Pras, E., Olender, T., Avidan, N., Ben Asher, E., Man, O., Levy-Nissenbaum, E., Khoury, A., Lorber, A., Goldman, B., Lancet, D., Eldar, M. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 2001, 69: 1378-1384.
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1378-1384
-
-
Lahat, H.1
Pras, E.2
Olender, T.3
Avidan, N.4
Ben Asher, E.5
Man, O.6
Levy-Nissenbaum, E.7
Khoury, A.8
Lorber, A.9
Goldman, B.10
Lancet, D.11
Eldar, M.12
-
68
-
-
33746788063
-
Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: Insights from a RyR2 R4496C knock-in mouse model
-
Liu, N., Colombi, B., Memmi, M., Zissimopoulos, S., Rizzi, N., Negri, S., Imbriani, M., Napolitano, C., Lai, F.A., Priori, S.G. Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. Circ. Res. 2006, 99: 292-298.
-
(2006)
Circ. Res
, vol.99
, pp. 292-298
-
-
Liu, N.1
Colombi, B.2
Memmi, M.3
Zissimopoulos, S.4
Rizzi, N.5
Negri, S.6
Imbriani, M.7
Napolitano, C.8
Lai, F.A.9
Priori, S.G.10
-
69
-
-
34447133403
-
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia
-
Song, L., Alcalai, R., Arad, M., Wolf, C.M., Toka, O., Conner, D.A., Berul, C.I., Eldar, M., Seidman, C.E., Seidman, J.G. Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J. Clin. Invest. 2007, 117: 1814-1823.
-
(2007)
J. Clin. Invest
, vol.117
, pp. 1814-1823
-
-
Song, L.1
Alcalai, R.2
Arad, M.3
Wolf, C.M.4
Toka, O.5
Conner, D.A.6
Berul, C.I.7
Eldar, M.8
Seidman, C.E.9
Seidman, J.G.10
-
70
-
-
1842425821
-
Sudden death in patients without structural heart disease
-
Wever, E.F., Robles de Medina, E.O. Sudden death in patients without structural heart disease. J. Am. Coll. Cardiol. 2004, 43: 1137-1144.
-
(2004)
J. Am. Coll. Cardiol
, vol.43
, pp. 1137-1144
-
-
Wever, E.F.1
Robles de Medina, E.O.2
-
71
-
-
0027162017
-
Unfavorable outcome in patients with primary electrical disease who survived an episode of ventnicular fibrillation
-
Wever, E.F., Hauer, R.N., Oomen, A., Peters, R.H., Bakker, P.F., Robles de Medina, E.O. Unfavorable outcome in patients with primary electrical disease who survived an episode of ventnicular fibrillation. Circulation 1993, 88: 1021-1029.
-
(1993)
Circulation
, vol.88
, pp. 1021-1029
-
-
Wever, E.F.1
Hauer, R.N.2
Oomen, A.3
Peters, R.H.4
Bakker, P.F.5
Robles de Medina, E.O.6
-
72
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
Chen, Q., Kirsch, G.E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., Potenza, D., Moya, A., Borggrefe, M., Breithardt, G., Ortiz-Lopez, R., Wang, Z., Antzelevitch, C., O'Brien, R.E., Schulze-Bahr, E., Keating, M.T., Towbin, I. A., Wang, Q. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998, 392: 293-296.
-
(1998)
Nature
, vol.392
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
Brugada, R.4
Brugada, J.5
Brugada, P.6
Potenza, D.7
Moya, A.8
Borggrefe, M.9
Breithardt, G.10
Ortiz-Lopez, R.11
Wang, Z.12
Antzelevitch, C.13
O'Brien, R.E.14
Schulze-Bahr, E.15
Keating, M.T.16
Towbin, I.A.17
Wang, Q.18
-
73
-
-
4644251150
-
Mutational screening of SCN5A linked disorders in Polish patients and their family members
-
Moric-Janiszewska, E., Herbert, E., Cholewa, K., Filipecki, A., Trusz-Gluza, M., Wilczok, T. Mutational screening of SCN5A linked disorders in Polish patients and their family members. J. Appl. Genet. 2004, 45: 383-39G.
-
(2004)
J. Appl. Genet
, vol.45
-
-
Moric-Janiszewska, E.1
Herbert, E.2
Cholewa, K.3
Filipecki, A.4
Trusz-Gluza, M.5
Wilczok, T.6
-
74
-
-
0033936489
-
Prevalence of the Brugada sign in idiopathic ventricular fibrillation and healthy controls
-
Viskin, S., Fish, R., Eldar, M., Zeltser, D., Lesh, M.D., Glick, A., Belhassen, B. Prevalence of the Brugada sign in idiopathic ventricular fibrillation and healthy controls. Heart 2000, 84: 31-36.
-
(2000)
Heart
, vol.84
, pp. 31-36
-
-
Viskin, S.1
Fish, R.2
Eldar, M.3
Zeltser, D.4
Lesh, M.D.5
Glick, A.6
Belhassen, B.7
-
75
-
-
11244315277
-
Linkage analyses and SCN5A mutations screening in five sudden unexplained death syndrome (Lai-tai) families
-
Sangwatanaroj, S., Yanatasneejit, P., Sunsaneewitayakul, B., Sitthisook, S. Linkage analyses and SCN5A mutations screening in five sudden unexplained death syndrome (Lai-tai) families. J. Med. Assoc. Thai. 2002, 85(Suppl 1): S54-S61.
-
(2002)
J. Med. Assoc. Thai
, vol.85
, Issue.SUPPL. 1
-
-
Sangwatanaroj, S.1
Yanatasneejit, P.2
Sunsaneewitayakul, B.3
Sitthisook, S.4
-
76
-
-
33745237158
-
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
-
Arking, D.E., Pfeufer, A., Post, W., Kao, W.H., Newton-Cheh, C., Ikeda, M., West, K., Kashuk, C., Akyol, M., Perz, S., Jalilzadeh, S., Illig, T., Gieger, C., Guo, C.Y., Larson, M.G., Wichmann, H.E., Marban, E., O'Donnell, C.J., Hirschhorn, J.N., Kaab, S., Spooner, P.M., Meitinger, T., Chakravarti, A. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat. Genet. 2006, 38: 644-651.
-
(2006)
Nat. Genet
, vol.38
, pp. 644-651
-
-
Arking, D.E.1
Pfeufer, A.2
Post, W.3
Kao, W.H.4
Newton-Cheh, C.5
Ikeda, M.6
West, K.7
Kashuk, C.8
Akyol, M.9
Perz, S.10
Jalilzadeh, S.11
Illig, T.12
Gieger, C.13
Guo, C.Y.14
Larson, M.G.15
Wichmann, H.E.16
Marban, E.17
O'Donnell, C.J.18
Hirschhorn, J.N.19
Kaab, S.20
Spooner, P.M.21
Meitinger, T.22
Chakravarti, A.23
more..
-
77
-
-
34347335661
-
Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study
-
Aarnoudse, A.J., Newton-Cheh, C., de Bakker, P.I. Straus, S.M., Kors, J.A., Hofman, A., Uitterlinden, A.G., Witteman, J.C., Stricker, B.H. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation 2007, 116: 10-16.
-
(2007)
Circulation
, vol.116
, pp. 10-16
-
-
Aarnoudse, A.J.1
Newton-Cheh, C.2
de Bakker, P.I.3
Straus, S.M.4
Kors, J.A.5
Hofman, A.6
Uitterlinden, A.G.7
Witteman, J.C.8
Stricker, B.H.9
-
78
-
-
33750717206
-
Molecular ablation of ventricular tachycardia after myocardial infarction
-
Sasano, T., McDonald, A.D., Kikuchi, K., Donahue, J.K. Molecular ablation of ventricular tachycardia after myocardial infarction. Nat. Med. 2006, 12: 1256-1258.
-
(2006)
Nat. Med
, vol.12
, pp. 1256-1258
-
-
Sasano, T.1
McDonald, A.D.2
Kikuchi, K.3
Donahue, J.K.4
-
79
-
-
33748479239
-
Wild-type and mutant HCN channels in a tandem biological-electronic cardiac pacemaker
-
Bucchi, A., Plotnikov, A.N., Shlapakova, I., Danilo, P. Jr., Kryukova, Y., Qu, J., Lu, Z., Liu, H., Pan, Z., Potapova, I., KenKnight, B., Girouard, S., Cohen, I.S., Brink, P.R., Robinson, R.B., Rosen, M.R. Wild-type and mutant HCN channels in a tandem biological-electronic cardiac pacemaker. Circulation 2006, 114: 992-999.
-
(2006)
Circulation
, vol.114
, pp. 992-999
-
-
Bucchi, A.1
Plotnikov, A.N.2
Shlapakova, I.3
Danilo Jr., P.4
Kryukova, Y.5
Qu, J.6
Lu, Z.7
Liu, H.8
Pan, Z.9
Potapova, I.10
KenKnight, B.11
Girouard, S.12
Cohen, I.S.13
Brink, P.R.14
Robinson, R.B.15
Rosen, M.R.16
-
80
-
-
0032518565
-
Enhancement of murine cardiac chronotropy by the molecular transfer of the human beta2 adrenergic receptor cDNA
-
Edelberg, J.M., Aird, W.C., Rosenberg, R.D. Enhancement of murine cardiac chronotropy by the molecular transfer of the human beta2 adrenergic receptor cDNA. J. Clin. Invest. 1998, 101: 337-343.
-
(1998)
J. Clin. Invest
, vol.101
, pp. 337-343
-
-
Edelberg, J.M.1
Aird, W.C.2
Rosenberg, R.D.3
-
81
-
-
0037068468
-
Biological pacemaker created by gene transfer
-
Miake, J., Marban, E., Nuss, H.B. Biological pacemaker created by gene transfer. Nature 2002, 419: 132-133.
-
(2002)
Nature
, vol.419
, pp. 132-133
-
-
Miake, J.1
Marban, E.2
Nuss, H.B.3
-
82
-
-
0037418162
-
Expression and function of a biological pacemaker in canine heart
-
Qu, J., Plotnikov, A.N., Danilo, P., Jr, Shlapakova, I., Cohen, I.S., Robinson, R.B., Rosen, M.R. Expression and function of a biological pacemaker in canine heart. Circulation 2003, 107: 1106-1109.
-
(2003)
Circulation
, vol.107
, pp. 1106-1109
-
-
Qu, J.1
Plotnikov, A.N.2
Danilo Jr, P.3
Shlapakova, I.4
Cohen, I.S.5
Robinson, R.B.6
Rosen, M.R.7
-
83
-
-
10744224778
-
Biological pacemaker implanted in canine left bundle branch provides ventricular escape rhythms that have physiologically acceptable rates
-
Plotnikov, A.N., Sosunov, E.A. Qu, J., Shlapakova, I.N., Anyukhovsky, E.P., Liu, L., Janse, M.J., Brink, P.R., Cohen, I.S., Robinson, R.B., Danilo, P., Jr., Rosen, M.R. Biological pacemaker implanted in canine left bundle branch provides ventricular escape rhythms that have physiologically acceptable rates. Circulation 2004, 109: 506-512.
-
(2004)
Circulation
, vol.109
, pp. 506-512
-
-
Plotnikov, A.N.1
Sosunov, E.A.2
Qu, J.3
Shlapakova, I.N.4
Anyukhovsky, E.P.5
Liu, L.6
Janse, M.J.7
Brink, P.R.8
Cohen, I.S.9
Robinson, R.B.10
Danilo Jr., P.11
Rosen, M.R.12
-
84
-
-
11144357199
-
Human mesenchymal stem cells as a gene delivery system to create cardiac pacemakers
-
Potapova, I., Plotnikov, A., Lu, Z., Danilo, P., Jr., Valiunas, V., Qu, J., Doronin, S., Zuckerman, J., Shlapakova, I.N., Gao, J., Pan, Z., Herron, A.J., Robinson, R.B., Brink, P.R., Rosen, M.R., Cohen, I.S. Human mesenchymal stem cells as a gene delivery system to create cardiac pacemakers. Circ. Res. 2004, 94: 952-959.
-
(2004)
Circ. Res
, vol.94
, pp. 952-959
-
-
Potapova, I.1
Plotnikov, A.2
Lu, Z.3
Danilo Jr., P.4
Valiunas, V.5
Qu, J.6
Doronin, S.7
Zuckerman, J.8
Shlapakova, I.N.9
Gao, J.10
Pan, Z.11
Herron, A.J.12
Robinson, R.B.13
Brink, P.R.14
Rosen, M.R.15
Cohen, I.S.16
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