-
2
-
-
0024419522
-
Emery-Dreifuss syndrome
-
Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989;26: 637-641
-
(1989)
J Med Genet
, vol.26
, pp. 637-641
-
-
Emery, A.E.H.1
-
3
-
-
0026377661
-
Workshop report. European workshop on Emery- dreifuss muscular dystrophy 1991
-
Yates JRW. Workshop report. European workshop on Emery- dreifuss muscular dystrophy 1991. Neuromuscul Disord 1991; 1:393-396
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 393-396
-
-
Yates, J.R.W.1
-
5
-
-
0026079202
-
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study
-
Consalez GG, Thomas NST, Stayton CL, et al. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results 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.T.2
Stayton, C.L.3
-
6
-
-
0027465216
-
Emery-Dreifuss muscular dystrophy: Linkage to markers in distal Xq28
-
Yates JRW, Warner JP, Smith JA, et al. Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. J Med Genet 1993;30:108-111
-
(1993)
J Med Genet
, vol.30
, pp. 108-111
-
-
Yates, J.R.W.1
Warner, J.P.2
Smith, J.A.3
-
7
-
-
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
-
8
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-259
-
(1996)
Nat Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
-
9
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
Manilal S, Nguen thi Man, Sewry CA, Morris GE. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-808
-
(1996)
Hum Mol Genet
, vol.5
, pp. 801-808
-
-
Manilal, S.1
Thi Man, N.2
Sewry, C.A.3
Morris, G.E.4
-
10
-
-
0028865862
-
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
-
Bione S. Small K, Aksmanovic VMA, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4:1859-1863
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1859-1863
-
-
Bione, S.1
Small, K.2
Aksmanovic, V.M.A.3
-
11
-
-
0028892092
-
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
-
Klauck SM, Wilgenbus P, Yates JRW, et al. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1995;4:1853-1857
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1853-1857
-
-
Klauck, S.M.1
Wilgenbus, P.2
Yates, J.R.W.3
-
12
-
-
0028892101
-
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
-
Nigro V, Bruni P, Ciccodicola A, et al. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995;4:2003-2004
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
-
13
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987;162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
15
-
-
0019413028
-
Emery-Dreifuss humeroperoneal muscular dystrophy: An X-linked myoparhy with unusual contractures and bradycardia
-
Hopkins LC, Jackson JA, Elsas LJ. Emery-Dreifuss humeroperoneal muscular dystrophy: an X-linked myoparhy with unusual contractures and bradycardia. Ann Neurol 1981;10:230-237
-
(1981)
Ann Neurol
, vol.10
, pp. 230-237
-
-
Hopkins, L.C.1
Jackson, J.A.2
Elsas, L.J.3
|