-
1
-
-
0023032014
-
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
-
Fisher DZ, Chaudary N, Blobel G. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins. Proc Natl Acad Sci U S A 1986; 83: 6450-6454.
-
(1986)
Proc Natl Acad Sci U S A
, vol.83
, pp. 6450-6454
-
-
Fisher, D.Z.1
Chaudary, N.2
Blobel, G.3
-
2
-
-
0035451481
-
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreyfuss muscular dystrophy
-
Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, et al. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreyfuss muscular dystrophy. Am J Med Genet 2001; 102: 359-367.
-
(2001)
Am J Med Genet
, vol.102
, pp. 359-367
-
-
Brown, C.A.1
Lanning, R.W.2
McKinney, K.Q.3
Salvino, A.R.4
Cherniske, E.5
Crowe, C.A.6
-
3
-
-
0012786941
-
Diseases associated with myonuclear abnormalities: defects of nuclear membrane related proteins (emerin, Lamins A/C). In: Karpati G, editor. , 2002; Basel, Switzerland: ISN Neuroplath Press. chapt. 3
-
Bonne G. Diseases associated with myonuclear abnormalities: defects of nuclear membrane related proteins (emerin, Lamins A/C). In: Karpati G, editor. Structural and molecular basis of skeletal muscle diseases, 2002; Basel, Switzerland: ISN Neuroplath Press. chapt. 3: p. 48-56.
-
Structural and molecular basis of skeletal muscle diseases
, pp. 48-56
-
-
Bonne, G.1
-
4
-
-
0036347096
-
Life at the edge; the nuclear envelope and human disease
-
Burke B, Stewart C. Life at the edge; the nuclear envelope and human disease. Nat Rev Mol Cell Biol 2002; 3: 575-585.
-
(2002)
Nat Rev Mol Cell Biol
, vol.3
, pp. 575-585
-
-
Burke, B.1
Stewart, C.2
-
5
-
-
0038333530
-
The carboxyl-terminal region common to lamins A and C contains a DNA binding domain
-
Stierle V, Couprie J, Ostlund C, Krimm I, Zinn-Justin S, Hossenlopp P, et al. The carboxyl-terminal region common to lamins A and C contains a DNA binding domain. Biochemistry 2003; 42: 4819-4828.
-
(2003)
Biochemistry
, vol.42
, pp. 4819-4828
-
-
Stierle, V.1
Couprie, J.2
Ostlund, C.3
Krimm, I.4
Zinn-Justin, S.5
Hossenlopp, P.6
-
6
-
-
0035146907
-
Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina
-
Cohen M, Lee K, Wilson K, Gruenbaum Yl. Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina. Trends Biochem Sci 2001; 26: 41-47.
-
(2001)
Trends Biochem Sci
, vol.26
, pp. 41-47
-
-
Cohen, M.1
Lee, K.2
Wilson, K.3
Gruenbaum, Y.4
-
7
-
-
0035986315
-
Molecular characterization of protein kinase C-alpha binding to lamin A
-
Martelli AM, Bortul R, Tabellini G, Faenza I, Capellini A, Bareggi R, et al. Molecular characterization of protein kinase C-alpha binding to lamin A. J Cell Biochem 2002; 86: 320-330.
-
(2002)
J Cell Biochem
, vol.86
, pp. 320-330
-
-
Martelli, A.M.1
Bortul, R.2
Tabellini, G.3
Faenza, I.4
Capellini, A.5
Bareggi, R.6
-
8
-
-
33645116283
-
Laminopathies: multisystem dystrophycsyndromes
-
Jacob KN, Garg A. Laminopathies: multisystem dystrophycsyndromes. Mol Genet Met 2006; 87: 289-302.
-
(2006)
Mol Genet Met
, vol.87
, pp. 289-302
-
-
Jacob, K.N.1
Garg, A.2
-
9
-
-
2942608209
-
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
-
Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet 2004; 41: e29.
-
(2004)
J Med Genet
, vol.41
-
-
Goizet, C.1
Yaou, R.B.2
Demay, L.3
Richard, P.4
Bouillot, S.5
Rouanet, M.6
-
10
-
-
19944427084
-
S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria
-
Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, et al. S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol 2005; 57: 148-151.
-
(2005)
Ann Neurol
, vol.57
, pp. 148-151
-
-
Kirschner, J.1
Brune, T.2
Wehnert, M.3
Denecke, J.4
Wasner, C.5
Feuer, A.6
-
11
-
-
0037183491
-
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
-
van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002; 59: 620-623.
-
(2002)
Neurology
, vol.59
, pp. 620-623
-
-
van der Kooi, A.J.1
Bonne, G.2
Eymard, B.3
Duboc, D.4
Talim, B.5
Van der Valk, M.6
-
12
-
-
56249128255
-
Genetics of laminopathies
-
Ben Yahou R, Muchir A, Arimura T, Massart C, Demay L, Richard P, et al. Genetics of laminopathies. Novartis Found Symp 2005; 264: 81-90.
-
(2005)
Novartis Found Symp
, vol.264
, pp. 81-90
-
-
Ben Yahou, R.1
Muchir, A.2
Arimura, T.3
Massart, C.4
Demay, L.5
Richard, P.6
-
13
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000; 48: 170-180.
-
(2000)
Ann Neurol
, vol.48
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
-
14
-
-
0034620567
-
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
-
Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000; 101: 473-476.
-
(2000)
Circulation
, vol.101
, pp. 473-476
-
-
Brodsky, G.L.1
Muntoni, F.2
Miocic, S.3
Sinagra, G.4
Sewry, C.5
Mestroni, L.6
-
15
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000; 66: 1407-1412.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Raffaele Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
-
16
-
-
20944446928
-
LMNA mutation position predicts organ system involvement in laminopathies
-
Hegele RA. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005: 68: 31-34.
-
(2005)
Clin Genet
, vol.68
, pp. 31-34
-
-
Hegele, R.A.1
-
17
-
-
34548794894
-
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
-
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007; 69: 1285-1292.
-
(2007)
Neurology
, vol.69
, pp. 1285-1292
-
-
Benedetti, S.1
Menditto, I.2
Degano, M.3
Rodolico, C.4
Merlini, L.5
D'Amico, A.6
-
18
-
-
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?
-
van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, et al. 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 2005; 83: 79-83
-
(2005)
J Mol Med
, vol.83
, pp. 79-83
-
-
van Berlo, J.H.1
de Voogt, W.G.2
van der Kooi, A.J.3
van Tintelen, J.P.4
Bonne, G.5
Yaou, R.B.6
-
19
-
-
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 MR, Porcu M, Frenneaux M, et al. 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: 1724-1725
-
(1999)
N Engl J Med
, vol.341
, pp. 1724-1725
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
Wolff, M.R.4
Porcu, M.5
Frenneaux, M.6
-
20
-
-
67651056405
-
Lamin A/C deficiency as a cause of familial dilated cardiomyopathy
-
Malhotra R, Mason PK. Lamin A/C deficiency as a cause of familial dilated cardiomyopathy. Curr Opin Cardiol 2009; 24: 203-208.
-
(2009)
Curr Opin Cardiol
, vol.24
, pp. 203-208
-
-
Malhotra, R.1
Mason, P.K.2
-
21
-
-
30444446953
-
Primary prevention of sudden death in patients with Lamin A/C gene mutations
-
Meune C, Van Berlo JH, Anselme F, Bonne G, Pinto YM, Duboc D. Primary prevention of sudden death in patients with Lamin A/C gene mutations. N Engl J Med 2006; 354: 209-210.
-
(2006)
N Engl J Med
, vol.354
, pp. 209-210
-
-
Meune, C.1
Van Berlo, J.H.2
Anselme, F.3
Bonne, G.4
Pinto, Y.M.5
Duboc, D.6
-
22
-
-
52949111684
-
Long-term outcome and risk stratification in dilated cardiolaminopathies
-
Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 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
-
23
-
-
84864010444
-
-
Oxford University Press: Oxford University Press; Epidemiologic a.A.c.-o.a.
-
Steve Selvin, Epidemiologic analysis. A case-oriented approach. Cambridge. Oxford University Press: Oxford University Press; 2001.
-
(2001)
Cambridge
-
-
Steve, S.1
-
24
-
-
77950239114
-
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
-
Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, e al. Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Muscle Nerve 2010; 41: 458-463.
-
(2010)
Muscle Nerve
, vol.41
, pp. 458-463
-
-
Carboni, N.1
Mura, M.2
Marrosu, G.3
Cocco, E.4
Marini, S.5
Solla, E.6
e al7
-
25
-
-
42649117467
-
Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation
-
Carboni N, Mura M, Marrosu G, Cocco E, Ahmad M, Solla E, et al. Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord 2008; 18: 291-298.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 291-298
-
-
Carboni, N.1
Mura, M.2
Marrosu, G.3
Cocco, E.4
Ahmad, M.5
Solla, E.6
-
26
-
-
84864023491
-
A novel mutation in Lamin A/C gene: phenotype and consequences on the protein structure and flexibility
-
Carboni N, Floris M, Valentini M, Marrosu G, Cocco E, Maioli MA, et al. A novel mutation in Lamin A/C gene: phenotype and consequences on the protein structure and flexibility. SRX Biol 2010: 1-8.
-
(2010)
SRX Biol
, pp. 1-8
-
-
Carboni, N.1
Floris, M.2
Valentini, M.3
Marrosu, G.4
Cocco, E.5
Maioli, M.A.6
|