-
1
-
-
0022519369
-
The nuclear lamina is a meshwork of intermediate-type filaments
-
Aebi, U., Cohn, J., Buhle, L. and Gerace, L. (1986). The nuclear lamina is a meshwork of intermediate-type filaments. Nature 323, 560-564. (Pubitemid 16025383)
-
(1986)
Nature
, vol.323
, Issue.6088
, pp. 560-564
-
-
Aebi, U.1
Cohn, J.2
Buhle, L.3
Gerace, L.4
-
2
-
-
18344380431
-
Autosomal dominant dilated cardiomyopathy with atrioventricular block: A lamin A/C defect-related disease
-
DOI 10.1016/S0735-1097(02)01724-2, PII S0735109702017242
-
Arbustini, E., Pilotto, A., Repetto, A., Grasso, M., Negri, A., Diegoli, M., Campana, C., Scelsi, L., Baldini, E., Gavazzi, A. et al. (2002). Autosomal dominant dilated cardiomyopathy with atrioventricular block:A lamin A/C defect-related disease. J. Am. Coll. Cardiol. 39, 981-990. (Pubitemid 34234120)
-
(2002)
Journal of the American College of Cardiology
, vol.39
, Issue.6
, pp. 981-990
-
-
Arbustini, E.1
Pilotto, A.2
Repetto, A.3
Grasso, M.4
Negri, A.5
Diegoli, M.6
Campana, C.7
Scelsi, L.8
Baldini, E.9
Gavazzi, A.10
Tavazzi, L.11
-
3
-
-
19944426537
-
Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies
-
Arimura, T., Helbling-Leclerc, A., Massart, C., Varnous, S., Niel, F., Lacène, E., Fromes, Y., Toussaint, M., Mura, A. M., Keller, D. I. et al. (2005). Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum. Mol. Genet. 14, 155-169.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 155-169
-
-
Arimura, T.1
Helbling-Leclerc, A.2
Massart, C.3
Varnous, S.4
Niel, F.5
Lacène, E.6
Fromes, Y.7
Toussaint, M.8
Mura, A.M.9
Keller, D.I.10
-
4
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione, S., Maestrini, E., Rivella, S., Mancini, M., Regis, S., Romeo, G. and Toniolo, D. (1994). Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat. Genet. 8, 323-327.
-
(1994)
Nat. Genet.
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
5
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne, G., Di Barletta, M. R., Varnous, S., Bécane, H. M., Hammouda, E. H., Merlini, L., Muntoni, F., Greenberg, C. R., Gary, F., Urtizberea, J. A. et al. (1999). Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat. Genet. 21, 285-288.
-
(1999)
Nat. Genet.
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Bécane, H.M.4
Hammouda, E.H.5
Merlini, L.6
Muntoni, F.7
Greenberg, C.R.8
Gary, F.9
Urtizberea, J.A.10
-
6
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
-
Bonne, G., Mercuri, E., Muchir, A., Urtizberea, A., Bécane, H. M., Recan, D., Merlini, L., Wehnert, M., Boor, R., Reuner, U. et al. (2000). Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann. Neurol. 48, 170-180. (Pubitemid 30617035)
-
(2000)
Annals of Neurology
, vol.48
, Issue.2
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
Merlini, L.7
Wehnert, M.8
Boor, R.9
Reuner, U.10
Vorgerd, M.11
Wicklein, E.M.12
Eymard, B.13
Duboc, D.14
Penisson-Besnier, I.15
Cuisset, J.M.16
Ferrer, X.17
Desguerre, I.18
Lacombe, D.19
Bushby, K.20
Pollitt, C.21
Toniolo, D.22
Fardeau, M.23
Schwartz, K.24
Muntoni, F.25
more..
-
7
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky, G. L., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C. and Mestroni, L. (2000). Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101, 473-476. (Pubitemid 30080859)
-
(2000)
Circulation
, vol.101
, Issue.5
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
Sinagra, G.4
Sewry, C.5
Mestroni, L.6
-
8
-
-
71549117899
-
The nuclear envelope as a signaling node in development and disease
-
Dauer, W. T. and Worman, H. J. (2009). The nuclear envelope as a signaling node in development and disease. Dev. Cell 17, 626-638.
-
(2009)
Dev. Cell
, vol.17
, pp. 626-638
-
-
Dauer, W.T.1
Worman, H.J.2
-
9
-
-
70350236483
-
The posttranslational processing of prelamin A and disease
-
Davies, B. S., Fong, L. G., Yang, S. H., Coffinier, C. and Young, S. G. (2009). The posttranslational processing of prelamin A and disease. Annu. Rev. Genomics Hum. Genet. 10, 153-174.
-
(2009)
Annu. Rev. Genomics Hum. Genet.
, vol.10
, pp. 153-174
-
-
Davies, B.S.1
Fong, L.G.2
Yang, S.H.3
Coffinier, C.4
Young, S.G.5
-
10
-
-
79952691505
-
Investigating the purpose of prelamin A processing
-
Davies, B. S., Coffinier, C., Yang, S. H., Barnes, R. H., Jung, H. J., Young, S. G. and Fong, L. G. (2011). Investigating the purpose of prelamin A processing. Nucleus 2, 4-9.
-
(2011)
Nucleus
, vol.2
, pp. 4-9
-
-
Davies, B.S.1
Coffinier, C.2
Yang, S.H.3
Barnes, R.H.4
Jung, H.J.5
Young, S.G.6
Fong, L.G.7
-
11
-
-
36849071396
-
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome
-
DOI 10.1210/jc.2007-0654
-
Decaudain, A., Vantyghem, M. C., Guerci, B., Hécart, A. C., Auclair, M., Reznik, Y., Narbonne, H., Ducluzeau P. H., Donadille, B., Lebbé, C. et al. (2007). New metabolic phenotypes in laminopathies:LMNA mutations in patients with severe metabolic syndrome. J. Clin. Endocrinol. Metab. 92, 4835-4844. (Pubitemid 350223467)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.12
, pp. 4835-4844
-
-
Decaudain, A.1
Vantyghem, M.-C.2
Guerci, B.3
Hecart, A.-C.4
Auclair, M.5
Reznik, Y.6
Narbonne, H.7
Ducluzeau, P.-H.8
Donadille, B.9
Lebbe, C.10
Bereziat, V.11
Capeau, J.12
Lascols, O.13
Vigouroux, C.14
-
12
-
-
41649097238
-
Nuclear lamins: Major factors in the structural organization and function of the nucleus and chromatin
-
DOI 10.1101/gad.1652708
-
Dechat, T., Pfleghaar, K., Sengupta, K., Shimi, T., Shumaker, D. K., Solimando, L. and Goldman, R. D. (2008). Nuclear lamins:Major factors in the structural organization and function of the nucleus and chromatin. Genes Dev. 22, 832-853. (Pubitemid 351482836)
-
(2008)
Genes and Development
, vol.22
, Issue.7
, pp. 832-853
-
-
Dechat, T.1
Pfleghaar, K.2
Sengupta, K.3
Shimi, T.4
Shumaker, D.K.5
Solimando, L.6
Goldman, R.D.7
-
13
-
-
0036178210
-
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
-
DOI 10.1086/339274
-
De Sandre-Giovannoli, A., Chaouch, M., Kozlov, S., Vallat, J. M., Tazir, M., Kassouri, N., Szepetowski, P., Hammadouche, T., Vandenberghe, A., Stewart, C. L. et al. (2002). Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am. J. Hum. Genet. 70, 726-736. (Pubitemid 34177926)
-
(2002)
American Journal of Human Genetics
, vol.70
, Issue.3
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.-M.4
Tazir, M.5
Kassouri, N.6
Szepetowski, P.7
Hammadouche, T.8
Vandenberghe, A.9
Stewart, C.L.10
Grid, D.11
Levy, N.12
-
14
-
-
10744229294
-
Lamin A truncation in Hutchinson-Gilford progeria
-
DOI 10.1126/science.1084125
-
De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., Le Merrer, M. et al. (2003). Lamin a truncation in Hutchinson-Gilford progeria. Science 300, 2055. (Pubitemid 36760124)
-
(2003)
Science
, vol.300
, Issue.5628
, pp. 2055
-
-
De Sandre-Giovannoli, A.1
Bernard, R.2
Cau, P.3
Navarro, C.4
Amiel, J.5
Boccaccio, I.6
Lyonnet, S.7
Stewart, C.L.8
Munnich, A.9
Le, M.M.10
Levy, N.11
-
15
-
-
0037124053
-
Structure of the globular tail of nuclear lamin
-
DOI 10.1074/jbc.C200038200
-
Dhe-Paganon, S., Werner, E. D., Chi, Y. I. and Shoelson, S. E. (2002). Structure of the globular tail of nuclear lamin. J. Biol. Chem. 277, 17381-17384. (Pubitemid 34967536)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.20
, pp. 17381-17384
-
-
Dhe-Paganon, S.1
Werner, E.D.2
Chi, Y.-I.3
Shoelson, S.E.4
-
16
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant autosomal recessive Emery-Dreifuss muscular dystrophy
-
DOI 10.1086/302869
-
Di Barletta, R., Ricci, E., Galluzzi, G., Tonali, P., Mora, M., Morandi, L., Romorini, A., Voit, T., Orstavik, K. H., Merlini, L. et al. (2000). Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 66, 1407-1412. (Pubitemid 30468795)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.4
, pp. 1407-1412
-
-
Di, B.M.R.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
-
17
-
-
0037673950
-
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
-
DOI 10.1038/nature01629
-
Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P. et al. (2003). Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423, 293-298. (Pubitemid 40852699)
-
(2003)
Nature
, vol.423
, Issue.6937
, pp. 293-298
-
-
Eriksson, M.1
Brown, W.T.2
Gordon, L.B.3
Glynn, M.W.4
Singer, J.5
Scott, L.6
Erdos, M.R.7
Robbins, C.M.8
Moses, T.Y.9
Berglund, P.10
Dutra, A.11
Pak, E.12
Durkin, S.13
Csoka, A.B.14
Boehnke, M.15
Glover, T.W.16
Collins, F.S.17
-
18
-
-
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. et al. (1999). 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. 341, 1715-1724.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1715-1724
-
-
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
-
19
-
-
0023032014
-
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
-
DOI 10.1073/pnas.83.17.6450
-
Fisher, D. Z., Chaudhary, N. and Blobel, G. (1986). cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc. Natl. Acad. Sci. USA 83, 6450-6454. (Pubitemid 17174752)
-
(1986)
Proceedings of the National Academy of Sciences of the United States of America
, vol.83
, Issue.17
, pp. 6450-6454
-
-
Fisher, D.Z.1
Chaudhary, N.2
Blobel, G.3
-
20
-
-
18444382032
-
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
-
DOI 10.1016/S0969-2126(02)00777-3, PII S0969212602007773
-
Krimm, I., Östlund, C., Gilquin, B., Couprie, J., Hossenlopp, P., Mornon, J. P., Bonne, G., Courvalin, J. C., Worman, H. J. and Zinn-Justin, S. (2002). The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure 10, 811-823. (Pubitemid 34628710)
-
(2002)
Structure
, vol.10
, Issue.6
, pp. 811-823
-
-
Krimm, I.1
Ostlund, C.2
Gilquin, B.3
Couprie, J.4
Hossenlopp, P.5
Mornon, J.-P.6
Bonne, G.7
Courvalin, J.-C.8
Worman, H.J.9
Zinn-Justin, S.10
-
21
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
DOI 10.1172/JCI200419670
-
Lammerding, J., Schulze, P. C., Takahashi, T., Kozlov, S., Sullivan, T., Kamm, R. D., Stewart, C. L. and Lee, R. T. (2004). Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Invest. 113, 370-378. (Pubitemid 38544181)
-
(2004)
Journal of Clinical Investigation
, vol.113
, Issue.3
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
Kamm, R.D.6
Stewart, C.L.7
Lee, R.T.8
-
22
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin, F. and Worman, H. J. (1993). Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J. Biol. Chem. 268, 16321-16326. (Pubitemid 23229934)
-
(1993)
Journal of Biological Chemistry
, vol.268
, Issue.22
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
23
-
-
0022648101
-
Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
-
DOI 10.1038/319463a0
-
McKeon, F. D., Kirschner, M. W. and Caput, D. (1986). Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319, 463-468. (Pubitemid 16212925)
-
(1986)
Nature
, vol.319
, Issue.6053
, pp. 463-468
-
-
McKeon, F.D.1
Kirschner, M.W.2
Caput, D.3
-
24
-
-
5644229494
-
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
-
DOI 10.1161/01.CIR.0000144458.58660.BB
-
McNair, W. P., Ku, L., Taylor, M. R., Fain, P. R., Dao, D., Wolfel, E., Mestroni, L. and Familial Cardiomyopathy Registry Research Group (2004). SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 110, 2163-2167. (Pubitemid 39372495)
-
(2004)
Circulation
, vol.110
, Issue.15
, pp. 2163-2167
-
-
McNair, W.P.1
Ku, L.2
Taylor, M.R.G.3
Fain, P.R.4
Dao, D.5
Wolfel, E.6
Mestroni, L.7
-
25
-
-
30444446953
-
Primary prevention of sudden death in patients with lamin A/C gene mutations [18]
-
DOI 10.1056/NEJMc052632
-
Meune, C., Van Berlo, J. H., Anselme, F., Bonne, G., Pinto, Y. M. and Duboc, D. (2006). Primary prevention of sudden death in patients with lamin A/C gene mutations. N. Engl. J. Med. 354, 209-210. (Pubitemid 43076737)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.2
, pp. 209-210
-
-
Meune, C.1
Van Berlo, J.H.2
Anselme, F.3
Bonne, G.4
Pinto, Y.M.5
Duboc, D.6
-
26
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
-
Muchir, A., Bonne, G., Van der Kooi, A. J., Van Meegen, M., Baas, F., Bolhuis, P. A., De Visser, M. and Schwartz, K. (2000). Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum. Mol. Genet. 9, 1453-1459. (Pubitemid 30312494)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van Der, K.A.J.3
Van Meegen, M.4
Baas, F.5
Bolhuis, P.A.6
De Visser, M.7
Schwartz, K.8
-
27
-
-
34547851806
-
Activation of MAPK in hearts of EMD null mice: Similarities between mouse models of X-linked and autosomal dominant Emery - Dreifuss muscular dystrophy
-
DOI 10.1093/hmg/ddm137
-
Muchir, A., Pavlidis, P., Bonne, G., Hayashi, Y. K. and Worman, H. J. (2007a). Activation of MAPK in hearts of EMD null mice:Similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. Hum. Mol. Genet. 16, 1884-1895. (Pubitemid 47244536)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.15
, pp. 1884-1895
-
-
Muchir, A.1
Pavlidis, P.2
Bonne, G.3
Hayashi, Y.K.4
Worman, H.J.5
-
28
-
-
34248198298
-
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy
-
DOI 10.1172/JCI29042
-
Muchir, A., Pavlidis, P., Decostre, V., Herron, A. J., Arimura, T., Bonne, G. and Worman, H. J. (2007b). Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. J. Clin. Invest. 117, 1282-1293. (Pubitemid 46718416)
-
(2007)
Journal of Clinical Investigation
, vol.117
, Issue.5
, pp. 1282-1293
-
-
Muchir, A.1
Pavlidis, P.2
Decostre, V.3
Herron, A.J.4
Arimura, T.5
Bonne, G.6
Worman, H.J.7
-
29
-
-
58049209788
-
Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins
-
Muchir, A., Shan, J., Bonne, G., Lehnart, S. E. and Worman, H. J. (2009). Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins. Hum. Mol. Genet. 18, 241-247.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 241-247
-
-
Muchir, A.1
Shan, J.2
Bonne, G.3
Lehnart, S.E.4
Worman, H.J.5
-
30
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
-
DOI 10.1086/341908
-
Novelli, G., Muchir, A., Sangiuolo, F., Helbling-Leclerc, A., D'Apice, M. R., Massart, C., Capon, F., Sbraccia, P., Federici, M., Lauro, R. et al. (2002). Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am. J. Hum. Genet. 71, 426-431. (Pubitemid 34800259)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.2
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbling-Leclerc, A.4
D'Apice, M.R.5
Massart, C.6
Capon, F.7
Sbraccia, P.8
Federici, M.9
Lauro, R.10
Tudisco, C.11
Pallotta, R.12
Scarano, G.13
Dallapiccola, B.14
Merlini, L.15
Bonne, G.16
-
31
-
-
45649083874
-
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
-
Parks, S. B., Kushner, J. D., Nauman, D., Burgess, D., Ludwigsen, S., Peterson, A., Li, D., Jakobs, P., Litt, M., Porter, C. B. et al. (2008). Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am. Heart J. 156, 161-169.
-
(2008)
Am. Heart J.
, vol.156
, pp. 161-169
-
-
Parks, S.B.1
Kushner, J.D.2
Nauman, D.3
Burgess, D.4
Ludwigsen, S.5
Peterson, A.6
Li, D.7
Jakobs, P.8
Litt, M.9
Porter, C.B.10
-
32
-
-
52949111684
-
-
Pasotti, M., Klersy, C., Pilotto, A., Marziliano, N., Rapezzi, C., Serio, A., Mannarino, S., Gambarin, F., Favalli, V., Grasso, M. et al. (2008). J. Am. Coll. Cardiol. 52, 1250-1260.
-
(2008)
J. Am. Coll. Cardiol.
, vol.52
, pp. 1250-1260
-
-
Pasotti, M.1
Klersy, C.2
Pilotto, A.3
Marziliano, N.4
Rapezzi, C.5
Serio, A.6
Mannarino, S.7
Gambarin, F.8
Favalli, V.9
Grasso, M.10
-
33
-
-
51549115452
-
De novo LMNA mutations cause a new form of congenital muscular dystrophy
-
Quijano-Roy, S., Mbieleu, B., Bönnemann, C. G., Jeannet, P. Y., Colomer, J., Clarke, N. F., Cuisset, J. M., Roper, H., De Meirleir, L., D'Amico, A. et al. (2008). De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann. Neurol. 64, 177-186.
-
(2008)
Ann. Neurol.
, vol.64
, pp. 177-186
-
-
Quijano-Roy, S.1
Mbieleu, B.2
Bönnemann, C.G.3
Jeannet, P.Y.4
Colomer, J.5
Clarke, N.F.6
Cuisset, J.M.7
Roper, H.8
De Meirleir, L.9
D'Amico, A.10
-
34
-
-
34249725120
-
Mouse models of the laminopathies
-
Stewart, C. L., Kozlov, S., Fong, L. G. and Young, S. G. (2007). Mouse models of the laminopathies. Exp. Cell Res. 313, 2144-2156.
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 2144-2156
-
-
Stewart, C.L.1
Kozlov, S.2
Fong, L.G.3
Young, S.G.4
-
35
-
-
0033615969
-
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
-
Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., Stewart, C. L. and Burke, B. (1999). Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J. Cell Biol. 147, 913-920.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 913-920
-
-
Sullivan, T.1
Escalante-Alcalde, D.2
Bhatt, H.3
Anver, M.4
Bhat, N.5
Nagashima, K.6
Stewart, C.L.7
Burke, B.8
-
36
-
-
0037420074
-
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
-
DOI 10.1016/S0735-1097(02)02954-6
-
Taylor, M. R., Fain, P. R., Sinagra, G., Robinson, M. L., Robertson, A. D., Carniel, E., Di Lenarda, A., Bohlmeyer, T. J., Ferguson, D. A., Brodsky, G. L. et al. (2003). Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J. Am. Coll. Cardiol. 41, 771-780. (Pubitemid 36308384)
-
(2003)
Journal of the American College of Cardiology
, vol.41
, Issue.5
, pp. 771-780
-
-
Taylor, M.R.G.1
Fain, P.R.2
Sinagra, G.3
Robinson, M.L.4
Robertson, A.D.5
Carniel, E.6
Di, L.A.7
Bohlmeyer, T.J.8
Ferguson, D.A.9
Brodsky, G.L.10
Boucek, M.M.11
Lascor, J.12
Moss, A.C.13
Li, W.-L.P.14
Stetler, G.L.15
Muntoni, F.16
Bristow, M.R.17
Mestroni, L.18
Dao, D.19
Graw, S.L.20
Ku, L.21
Lowes, B.D.22
Zhu, X.23
Gowan, K.24
Old, W.M.25
Driussi, M.26
Scherl, G.27
more..
-
37
-
-
19944431159
-
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: Do lamin A/C mutations portend a high risk of sudden death?
-
DOI 10.1007/s00109-004-0589-1
-
Van Berlo, J. H., De Voogt, W. G., Van der Kooi, A. J., Van Tintelen, J. P., Bonne, G., Yaou, R. B., Duboc, D., Rossenbacker, T., Heidbüchel, H., De Visser, M. et al. (2005). Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations:Do lamin A/C mutations portend a high risk of sudden death? J. Mol. Med. 83, 79-83. (Pubitemid 40169500)
-
(2005)
Journal of Molecular Medicine
, vol.83
, Issue.1
, pp. 79-83
-
-
Van Berlo, J.H.1
De Voogt, W.G.2
Van Der, K.A.J.3
Van Tintelen, J.P.4
Bonne, G.5
Yaou, R.B.6
Duboc, D.7
Rossenbacker, T.8
Heidbuchel, H.9
De Visser, M.10
Crijns, H.J.G.M.11
Pinto, Y.M.12
-
38
-
-
12544256294
-
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene
-
Van Engelen, B. G., Muchir, A., Hutchison, C. J., Van der Kooi, A. J., Bonne, G. and Lammens, M. (2005).The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology 64, 374-376.
-
(2005)
Neurology
, vol.64
, pp. 374-376
-
-
Van Engelen, B.G.1
Muchir, A.2
Hutchison, C.J.3
Van Der Kooi, A.J.4
Bonne, G.5
Lammens, M.6
-
39
-
-
77956792326
-
Next generation sequencing for clinical diagnostics-principles an application to targeted resequencing for hypertrophic cardiomyopathy:A paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology
-
Voelkerding, K. V., Dames, S. and Durtschi, J. D. (2010). Next generation sequencing for clinical diagnostics-principles an application to targeted resequencing for hypertrophic cardiomyopathy:A paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J. Mol. Diagn. 12, 539-551.
-
(2010)
J. Mol. Diagn.
, vol.12
, pp. 539-551
-
-
Voelkerding, K.V.1
Dames, S.2
Durtschi, J.D.3
-
41
-
-
77953810973
-
Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene
-
Wu, W., Shan, J., Bonne, G., Worman, H. J. and Muchir, A. (2010). Pharmacological inhibition of c-Jun N-terminal kinase signaling prevents cardiomyopathy caused by mutation in LMNA gene. Biochim. Biophys. Acta 1802, 632-638.
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, pp. 632-638
-
-
Wu, W.1
Shan, J.2
Bonne, G.3
Worman, H.J.4
Muchir, A.5
-
42
-
-
78751632066
-
Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene
-
Wu, W., Muchir, A., Shan, J., Bonne, G. and Worman, H. J. (2011). Mitogen-activated protein kinase inhibitors improve heart function and prevent fibrosis in cardiomyopathy caused by mutation in lamin A/C gene. Circulation 123, 53-61.
-
(2011)
Circulation
, vol.123
, pp. 53-61
-
-
Wu, W.1
Muchir, A.2
Shan, J.3
Bonne, G.4
Worman, H.J.5
|