-
2
-
-
0026079202
-
Assignment of the Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The result of a collaborative study
-
Consalez GG, Thomas NS, Stayton CL, et al. Assignment of the Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the result of a collaborative study. Am J Hum Genet 1991;48:468-480.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 468-480
-
-
Consalez, G.G.1
Thomas, N.S.2
Stayton, C.L.3
-
3
-
-
0027985787
-
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
-
Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
-
4
-
-
0029917273
-
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization
-
Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. Genomics 1996;32:474-478.
-
(1996)
Genomics
, vol.32
, pp. 474-478
-
-
Wydner, K.L.1
McNeil, J.A.2
Lin, F.3
Worman, H.J.4
Lawrence, J.B.5
-
5
-
-
0008330781
-
Genetic localization of autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, DiBarletta MR, Varnous S, et al. Genetic localization of autosomal dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 1998;S7:S65.
-
(1998)
Muscle Nerve
, vol.S7
-
-
Bonne, G.1
DiBarletta, M.R.2
Varnous, S.3
-
6
-
-
0032977685
-
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, DiBarletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-288.
-
(1999)
Nat Genet
, vol.21
, pp. 285-288
-
-
Bonne, G.1
DiBarletta, M.R.2
Varnous, S.3
-
7
-
-
0033518282
-
Missense mutations in the rod domain of the lamin A/C gene as the causes of dilated cardiomyopathy and conduction-system disease
-
Fatkin D, MacRae C, Sasaki T, et al. Missense mutations in the rod domain of the lamin A/C gene as the causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999;341:1715-1724.
-
(1999)
N Engl J Med
, vol.341
, pp. 1715-1724
-
-
Fatkin, D.1
MacRae, C.2
Sasaki, T.3
-
8
-
-
0033951216
-
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
-
Shackleton S, Lloyd DJ, Jackson SNJ. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000;24: 153-156.
-
(2000)
Nat Genet
, vol.24
, pp. 153-156
-
-
Shackleton, S.1
Lloyd, D.J.2
Jackson, S.N.J.3
-
9
-
-
0000990095
-
Muscular shortening and dystrophy: A heredofamilial disease
-
Hauptmann A, Thannhauser SJ. Muscular shortening and dystrophy: a heredofamilial disease. Arch Neurol Psychiatry 1941;46:654-664.
-
(1941)
Arch Neurol Psychiatry
, vol.46
, pp. 654-664
-
-
Hauptmann, A.1
Thannhauser, S.J.2
-
11
-
-
0019783165
-
Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features
-
Chakrabarti A, Pearce JMS. Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry 1981;44:1146-1152.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 1146-1152
-
-
Chakrabarti, A.1
Pearce, J.M.S.2
-
12
-
-
0020398795
-
An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy
-
Fenichel GM, Sul YC, Kilroy AW, Blouin R. An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy. Neurology 1982;32:1399-1401.
-
(1982)
Neurology
, vol.32
, pp. 1399-1401
-
-
Fenichel, G.M.1
Sul, Y.C.2
Kilroy, A.W.3
Blouin, R.4
-
13
-
-
0021859335
-
Emery-Dreifuss muscular dystrophy with autosomal dominant transmission
-
Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 1985;35:1230-1233.
-
(1985)
Neurology
, vol.35
, pp. 1230-1233
-
-
Miller, R.G.1
Layzer, R.B.2
Mellenthin, M.A.3
Golabi, M.4
Francoz, R.A.5
Mall, J.C.6
-
14
-
-
0022647863
-
Autosomal dominant humeroperoneal myopathy
-
Gilchrist JM, Leshner RT. Autosomal dominant humeroperoneal myopathy. Arch Neurol 1986;43:734-735.
-
(1986)
Arch Neurol
, vol.43
, pp. 734-735
-
-
Gilchrist, J.M.1
Leshner, R.T.2
-
15
-
-
0025251574
-
Emery-Dreifuss syndrome in three generations of females, including identical twins
-
Emery-Dreifuss syndrome in three generations of females, including identical twins. Clin Genet 1990;38:447-451.
-
(1990)
Clin Genet
, vol.38
, pp. 447-451
-
-
-
16
-
-
0029994718
-
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
-
van der Kooi AJ, Ledderhof TM, de Voogt WG, et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996;39:636-642.
-
(1996)
Ann Neurol
, vol.39
, pp. 636-642
-
-
Van Der Kooi, A.J.1
Ledderhof, T.M.2
De Voogt, W.G.3
-
17
-
-
0030898109
-
Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
-
van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 1997;60:891-895.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 891-895
-
-
Van Der Kooi, A.J.1
Van Meegen, M.2
Ledderhof, T.M.3
McNally, E.M.4
De Visser, M.5
Bolhuis, P.A.6
-
18
-
-
0032849889
-
Workshop report. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies
-
Workshop report. 66th/67th ENMC sponsored International Workshop: the limb-girdle muscular dystrophies. Neuromusc Disord 1999;9:436-445.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 436-445
-
-
-
19
-
-
0027257461
-
Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
-
Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. C J Biol Chem 1993;268:16321-16326.
-
(1993)
C J Biol Chem
, vol.268
, pp. 16321-16326
-
-
Lin, F.1
Worman, H.J.2
-
20
-
-
0343102098
-
Spectrum of mutations in lamin A/C gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy
-
Bonne G, Muchir A, Recan D, et al. Spectrum of mutations in lamin A/C gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromusc Disord 1999;9:509.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 509
-
-
Bonne, G.1
Muchir, A.2
Recan, D.3
-
21
-
-
0023032014
-
cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
-
Fisher DZ, Chaudhary 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 USA 1986;83:6450-6454.
-
(1986)
Proc Natl Acad Sci USA
, vol.83
, pp. 6450-6454
-
-
Fisher, D.Z.1
Chaudhary, N.2
Blobel, G.3
-
22
-
-
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
-
23
-
-
0027442899
-
The α-helical rod domain of human lamins A and C contains a chromatin binding site
-
Glass CA, Glass JR, Taniura H, et al. The α-helical rod domain of human lamins A and C contains a chromatin binding site. EMBO J 1993;12:4413-4424.
-
(1993)
EMBO J
, vol.12
, pp. 4413-4424
-
-
Glass, C.A.1
Glass, J.R.2
Taniura, H.3
-
24
-
-
0026343513
-
Interaction of xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxylterminal domain
-
Hoger TH, Krohne G, Kleinschmidt JA. Interaction of Xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxylterminal domain. Exp Cell Res 1991;197:280-289.
-
(1991)
Exp Cell Res
, vol.197
, pp. 280-289
-
-
Hoger, T.H.1
Krohne, G.2
Kleinschmidt, J.A.3
-
25
-
-
0029100609
-
A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones
-
Taniura H, Glass C, Gerace L. A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones. J Cell Biol 1995;131:33-44.
-
(1995)
J Cell Biol
, vol.131
, pp. 33-44
-
-
Taniura, H.1
Glass, C.2
Gerace, L.3
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