-
1
-
-
34047242886
-
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies
-
DOI 10.1002/humu.20459
-
Bär H, Goudeau B, Wälde S, Casteras-Simon M, Mücke N, Shatunov A, Goldberg YP, et al,. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies. Hum Mutat 2007; 28: 374-386. (Pubitemid 46542924)
-
(2007)
Human Mutation
, vol.28
, Issue.4
, pp. 374-386
-
-
Bar, H.1
Goudeau, B.2
Walde, S.3
Casteras-Simon, M.4
Mucke, N.5
Shatunov, A.6
Goldberg, Y.P.7
Clarke, C.8
Holton, J.L.9
Eymard, B.10
Katus, H.A.11
Fardeau, M.12
Goldfarb, L.13
Vicart, P.14
Herrmann, H.15
-
2
-
-
7744243863
-
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
-
DOI 10.1016/j.hrthm.2004.07.013, PII S1547527104004047
-
Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Tomothy KW, Keating MT, et al,. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 2004; 1: 600-607. (Pubitemid 39462721)
-
(2004)
Heart Rhythm
, vol.1
, Issue.5
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.C.3
Tester, D.J.4
Will, M.L.5
Timothy, K.W.6
Keating, M.T.7
Jones, G.8
Chadha, M.9
Burrow, C.R.10
Stephens, J.C.11
Xu, C.12
Judson, R.13
Curran, M.E.14
-
3
-
-
0345690174
-
Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome
-
Ackerman, MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME,. Ethnic differences in cardiac potassium channel variants: Implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc 2003; 78: 1479-1487. (Pubitemid 37475631)
-
(2003)
Mayo Clinic Proceedings
, vol.78
, Issue.12
, pp. 1479-1487
-
-
Ackerman, M.J.1
Tester, D.J.2
Jones, G.S.3
Will, M.L.4
Burrow, C.R.5
Curran, M.E.6
-
4
-
-
17344361902
-
A missense mutation in the αb-crystallin chaperone gene causes a desmin-related myopathy
-
DOI 10.1038/1765
-
Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, et al,. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998; 20: 92-95. (Pubitemid 28410353)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.-C.5
Faure, A.6
Chateau, D.7
Chapon, F.8
Tome, F.9
Dupret, J.-M.10
Paulin, D.11
Fardeau, M.12
-
5
-
-
0032729924
-
Myofibrillar myopathy
-
DOI 10.1002/1531-8249(199911)46:5<681::AID-ANA1>3.0.CO;2-B
-
Engel AG,. Myofibrillar myopathy. Ann Neurol 1999; 46: 681-683. (Pubitemid 29518127)
-
(1999)
Annals of Neurology
, vol.46
, Issue.5
, pp. 681-683
-
-
Engel, A.G.1
-
6
-
-
70350474285
-
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the des gene
-
van Tintelen JP, Van Gelder IC, Asimaki A, Suurmeijer AJH, Wiesfeld ACP, Jongbloed JDH, Van Den Wijngaard A, et al,. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm 2009; 6: 1574-1583.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1574-1583
-
-
Van Tintelen, J.P.1
Van Gelder, I.C.2
Asimaki, A.3
Suurmeijer, A.J.H.4
Wiesfeld, A.C.P.5
Jongbloed, J.D.H.6
Van Den Wijngaard, A.7
-
7
-
-
12144286880
-
Desmin-related myopathy: Clinical, electrophysiological, radiological, neuropathological and genetic studies
-
DOI 10.1016/j.jns.2004.01.007, PII S0022510X04000176
-
Olive, M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martinez-Matos JA, et al,. Desmin-related myopathy: Clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 2004; 219: 125-137. (Pubitemid 38406008)
-
(2004)
Journal of the Neurological Sciences
, vol.219
, Issue.1-2
, pp. 125-137
-
-
Olive, M.1
Goldfarb, L.2
Moreno, D.3
Laforet, E.4
Dagvadorj, A.5
Sambuughin, N.6
Martinez-Matos, J.A.7
Martinez, F.8
Alio, J.9
Farrero, E.10
Vicart, P.11
Ferrer, I.12
-
8
-
-
0037444403
-
On noxious desmin: Functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
-
DOI 10.1093/hmg/12.6.657
-
Schröder R, Goudeau B, Casteras-Simon M, Fischer D, Eggermann T, Clemen CS, Li Z, et al,. On noxious desmin: Functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003; 12: 657-669. (Pubitemid 36372492)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.6
, pp. 657-669
-
-
Schroder, R.1
Goudeau, B.2
Simon, M.C.3
Fischer, D.4
Eggermann, T.5
Clemen, C.S.6
Li, Z.7
Reimann, J.8
Xue, Z.9
Rudnik-Schoneborn, S.10
Zerres, K.11
Van Der Ven, P.F.M.12
Furst, D.O.13
Kunz, W.S.14
Vicart, P.15
-
9
-
-
21344433631
-
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
-
DOI 10.1016/j.hrthm.2005.04.021, PII S1547527105015924
-
Tan BH, Valdivia CR, Rok BA, Ye B, Ruwaldt K, Tester DJ, Ackerman MJ, et al,. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2005; 2: 741-747. (Pubitemid 40903682)
-
(2005)
Heart Rhythm
, vol.2
, Issue.7
, pp. 741-747
-
-
Tan, B.-H.1
Valdivia, C.R.2
Rok, B.A.3
Ye, B.4
Ruwaldt, K.M.5
Tester, D.J.6
Ackerman, M.J.7
Makielski, J.C.8
-
10
-
-
33846425740
-
Cardiac sodium channel dysfunction in sudden infant death syndrome
-
DOI 10.1161/CIRCULATIONAHA.106.646513, PII 0000301720070123000015
-
Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, et al,. Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation 2007; 115: 368-376. (Pubitemid 46148511)
-
(2007)
Circulation
, vol.115
, Issue.3
, pp. 368-376
-
-
Wang, D.W.1
Desai, R.R.2
Crotti, L.3
Arnestad, M.4
Insolia, R.5
Pedrazzini, M.6
Ferrandi, C.7
Vege, A.8
Rognum, T.9
Schwartz, P.J.10
George, A.L.11
-
11
-
-
41849143324
-
Kr-channel variant KCNH2-K897T is associated with atrial fibrillation: Results from a systematic candidate gene-based analysis of KCNH2 (HERG)
-
DOI 10.1093/eurheartj/ehm619
-
Sinner MF, Pfeufer A, Akyol M, Beckmann BM, Hinterseer M, Wacker An, Perz S, et al,. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: Results from a systematic candidate gene-based analysis of KCNH2 (HERG). Eur Heart J 2008; 29: 907-914. (Pubitemid 351499476)
-
(2008)
European Heart Journal
, vol.29
, Issue.7
, pp. 907-914
-
-
Sinner, M.F.1
Pfeufer, A.2
Akyol, M.3
Beckmann, B.-M.4
Hinterseer, M.5
Wacker, A.6
Perz, S.7
Sauter, W.8
Illig, T.9
Nabauer, M.10
Schmitt, C.11
Wichmann, H.-E.12
Schomig, A.13
Steinbeck, G.14
Meitinger, T.15
Kaab, S.16
-
12
-
-
43449097536
-
A novel and leathal de Novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response
-
Bankston JR, Yue M, Chung W, Spyres M, Pass RH, Silver E, Sampson KJ, et al,. A novel and leathal De Novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS ONE 2007; 12: e1258-e1258.
-
(2007)
PLoS ONE
, vol.12
-
-
Bankston, J.R.1
Yue, M.2
Chung, W.3
Spyres, M.4
Pass, R.H.5
Silver, E.6
Sampson, K.J.7
-
13
-
-
24644515300
-
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome
-
DOI 10.1161/CIRCULATIONAHA.105.549071
-
Crotti L, Lundquist AL, Insolia R, Pedrazzini M, Ferrandi C, De Ferrari GM, Vicentini A, et al,. KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation 2005; 112: 1251-1258. (Pubitemid 41266719)
-
(2005)
Circulation
, vol.112
, Issue.9
, 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
-
14
-
-
0344531524
-
Cytoskeletal modulation of electrical and mechanical activity in cardiac myocytes
-
DOI 10.1016/S0079-6107(03)00057-9
-
Calaghan SC, Le Guennec JYL, White E,. Cytoskeletal modulation of electrical and mechanical activity in cardiac myocytes. Prog Biophys Mol Biol 2004; 84: 29-59. (Pubitemid 37457744)
-
(2004)
Progress in Biophysics and Molecular Biology
, vol.84
, Issue.1
, pp. 29-59
-
-
Calaghan, S.C.1
Le Guennec, J.-Y.2
White, E.3
-
15
-
-
22544475951
-
Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy
-
DOI 10.1016/j.cardiores.2005.04.004, PII S0008636305001793
-
Gard JJ, Yamada K, Green KG, Eloff BC, Rosenbaum DS, Wang X, Robbins J, et al,. Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy. Cardiovasc Res 2005; 67: 539-547. (Pubitemid 41019561)
-
(2005)
Cardiovascular Research
, vol.67
, Issue.3
, pp. 539-547
-
-
Gard, J.J.1
Yamada, K.2
Green, K.G.3
Eloff, B.C.4
Rosenbaum, D.S.5
Wang, X.6
Robbins, J.7
Schuessler, R.B.8
Yamada, K.A.9
Saffitz, J.E.10
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