-
1
-
-
0034213873
-
Emery-Dreifuss muscular dystrophy - A 40 year retrospective
-
Emery AEH. Emery-Dreifuss muscular dystrophy-a 40 year retrospective. Neuromusc Disord 2000; 10: 228-32.
-
(2000)
Neuromusc Disord
, vol.10
, pp. 228-232
-
-
Emery, A.E.H.1
-
2
-
-
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, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 1994; 8: 323-7.
-
(1994)
Nature Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
-
3
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet 1996; 12: 254-9.
-
(1996)
Nature Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, J.5
Okada, R.6
-
4
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nature Genet 1999; 21: 285-8.
-
(1999)
Nature Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
Di Barletta, M.R.2
Varnous, S.3
Becane, H.M.4
Hammouda, E.H.5
Merlini, L.6
-
5
-
-
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: 170-80.
-
(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
-
6
-
-
0033927867
-
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
-
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: 1407-12.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1407-1412
-
-
Di Barletta, M.1
Ricci, E.2
Galluzzi, G.3
Tonali, P.4
Mora, M.5
Morandi, L.6
-
7
-
-
0034702027
-
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB)
-
Muchir A, Bonne G, Van der Kooi AJ, Van Meegen M, Baas F, Bolhuis PA, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB). Hum Mol Genet 2000; 9: 1453-9.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1453-1459
-
-
Muchir, A.1
Bonne, G.2
Van der Kooi, A.J.3
Van Meegen, M.4
Baas, F.5
Bolhuis, P.A.6
-
8
-
-
0033636387
-
High incidence of sudden death of conduction system and myocardial disease due to lamins A/C gene mutation
-
Becane HM, Bonne G, Vamous S, Muchir A, Ortega V, Hammouda EH, et al. High incidence of sudden death of conduction system and myocardial disease due to lamins A/C gene mutation. Pacing Clin Electrophysiol 2000; 23: 1661-6.
-
(2000)
Pacing Clin Electrophysiol
, vol.23
, pp. 1661-1666
-
-
Becane, H.M.1
Bonne, G.2
Vamous, S.3
Muchir, A.4
Ortega, V.5
Hammouda, E.H.6
-
9
-
-
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: 1715-24.
-
(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
-
10
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nature Genet 2000; 24: 153-6.
-
(2000)
Nature Genet
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.3
Evans, R.4
Niermeijer, M.F.5
Singh, B.M.6
-
11
-
-
0034059075
-
Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
-
Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000; 9: 109-12.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 109-112
-
-
Cao, H.1
Hegele, R.A.2
-
12
-
-
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
-
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. 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 2002; 70: 726-36.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 726-736
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Kozlov, S.3
Vallat, J.M.4
Tazir, M.5
Kassouri, N.6
-
13
-
-
12244293441
-
Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C
-
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA encoding lamins A/C. Am J Hum Genet 2002; 71: 426-31.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 426-431
-
-
Novelli, G.1
Muchir, A.2
Sangiuolo, F.3
Helbling-Leclerc, A.4
D'Apice, M.R.5
Massart, C.6
-
14
-
-
0036238678
-
Emery-Dreifuss muscular dystrophy (XL-EDMD, MIM# 310300, STA gene coding for emerin) (AD-EDMD, MIN# 181350, LMNA gene coding for lamin A/C)
-
Helbling-Leclerc A, Bonne G, Schwartz K. Emery-Dreifuss muscular dystrophy (XL-EDMD, MIM# 310300, STA gene coding for emerin) (AD-EDMD, MIN# 181350, LMNA gene coding for lamin A/C). Europ J Hum Genet 2002; 10: 157-61.
-
(2002)
Europ J Hum Genet
, vol.10
, pp. 157-161
-
-
Helbling-Leclerc, A.1
Bonne, G.2
Schwartz, K.3
-
15
-
-
0036133109
-
Autosomal dominant Emery-Dreifuss muscular dystrophy: A late suspected diagnosis
-
Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, et al. Autosomal dominant Emery-Dreifuss muscular dystrophy: A late suspected diagnosis. Neuromusc Disord 2002; 12: 18-24.
-
(2002)
Neuromusc Disord
, vol.12
, pp. 18-24
-
-
Colomer, J.1
Iturriaga, C.2
Bonne, G.3
Schwartz, K.4
Manilal, S.5
Morris, G.E.6
-
16
-
-
0034882439
-
A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block
-
Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, et al. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromusc Disord 2001; 11: 542-6.
-
(2001)
Neuromusc Disord
, vol.11
, pp. 542-546
-
-
Kitaguchi, T.1
Matsubara, S.2
Sato, M.3
Miyamoto, K.4
Hirai, S.5
Schwartz, K.6
-
17
-
-
0034090893
-
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2)
-
Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, et al. Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2). Neurology 2000; 54: 1704-5.
-
(2000)
Neurology
, vol.54
, pp. 1704-1705
-
-
Mercuri, E.1
Manzur, A.Y.2
Jungbluth, H.3
Bonne, G.4
Muchir, A.5
Sewry, C.6
-
18
-
-
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: 620-3.
-
(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
-
19
-
-
0031686054
-
Nuclear lamins: Their structure, assembly, and interactions
-
Stuurman N, Heins S, Aebi U. Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 1998; 122: 42-66.
-
(1998)
J Struct Biol
, vol.122
, pp. 42-66
-
-
Stuurman, N.1
Heins, S.2
Aebi, U.3
-
20
-
-
0034864629
-
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
-
Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, et al. Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 2001; 27: 281-90.
-
(2001)
Neuropathol Appl Neurobiol
, vol.27
, pp. 281-290
-
-
Sewry, C.A.1
Brown, S.C.2
Mercuri, E.3
Bonne, G.4
Feng, L.5
Camici, G.6
-
21
-
-
0035697055
-
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
-
Ostlund C, Bonne G, Schwartz K, Worman HJ. Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. J Cell Sci 2001; 114: 4435-45.
-
(2001)
J Cell Sci
, vol.114
, pp. 4435-4445
-
-
Ostlund, C.1
Bonne, G.2
Schwartz, K.3
Worman, H.J.4
-
22
-
-
18444382032
-
The Ig-like structure of the C-terminal domain of lamin a/c, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy
-
Krimm I, Ostlund C, Gilquin B, Couprie J, Hossenlopp P, Momon JP, et al. The Ig-like structure of the C-terminal domain of lamin a/c, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy. Structure (Camb) 2002; 10: 811-23.
-
(2002)
Structure (Camb)
, vol.10
, pp. 811-823
-
-
Krimm, I.1
Ostlund, C.2
Gilquin, B.3
Couprie, J.4
Hossenlopp, P.5
Momon, J.P.6
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