-
1
-
-
0001450358
-
Survival in X-chromosomal muscular dystrophy
-
Dreifuss F.E., Hogan G.R. Survival in X-chromosomal muscular dystrophy. Neurology. 11:1961;734-737.
-
(1961)
Neurology
, vol.11
, pp. 734-737
-
-
Dreifuss, F.E.1
Hogan, G.R.2
-
3
-
-
0018353543
-
Emery-Dreifuss muscular dystrophy
-
Rowland L.P., Fetell M., Olarte M., Hays A., Singh N., Wanat F.E. Emery-Dreifuss muscular dystrophy. Ann Neurol. 5:1979;111-117.
-
(1979)
Ann Neurol
, vol.5
, pp. 111-117
-
-
Rowland, L.P.1
Fetell, M.2
Olarte, M.3
Hays, A.4
Singh, N.5
Wanat, F.E.6
-
4
-
-
0023634621
-
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifusstype)
-
Emery A.E. X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifusstype). Clin Genet. 32:1987;360-367.
-
(1987)
Clin Genet
, vol.32
, pp. 360-367
-
-
Emery, A.E.1
-
5
-
-
0024419522
-
Emery-Dreifuss syndrome
-
Emery A.E. Emery-Dreifuss syndrome. J Med Genet. 26:1989;637-641.
-
(1989)
J Med Genet
, vol.26
, pp. 637-641
-
-
Emery, A.E.1
-
6
-
-
0024380341
-
Emery-Dreifuss muscular dystrophy and other related disorders
-
Emery A.E. Emery-Dreifuss muscular dystrophy and other related disorders. Br Med Bull. 45:1989;772-787.
-
(1989)
Br Med Bull
, vol.45
, pp. 772-787
-
-
Emery, A.E.1
-
7
-
-
0024582633
-
Follow-up study of cardiac involvement in Emery-Dreifuss muscular dystrophy
-
Yoshioka M., Saida K., Itagaki Y., Kamiya T. Follow-up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child. 64:1989;713-715.
-
(1989)
Arch Dis Child
, vol.64
, pp. 713-715
-
-
Yoshioka, M.1
Saida, K.2
Itagaki, Y.3
Kamiya, T.4
-
9
-
-
0026079202
-
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of a collaborative study
-
Consalez G.G., Thomas N.S.T., Stayton C.L., Knight S.J.L., Johnson M., Hopkins L.C., Harper P.S., Elsas L.J., Warren S.T. Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28 The results of a collaborative study . Am J Hum Genet. 48:1991;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
Knight, S.J.L.4
Johnson, M.5
Hopkins, L.C.6
Harper, P.S.7
Elsas, L.J.8
Warren, S.T.9
-
11
-
-
0021859335
-
Emery-Dreifuss muscular dystrophy with autosomal-dominant transmission
-
Miller R.G., Layzer R.B., Mellenthin M.A., Golabi M., Francoz R.A., Mall J.C. Emery-Dreifuss muscular dystrophy with autosomal-dominant transmission. Neurology. 35:1985;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
-
12
-
-
0021702524
-
A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis
-
Takamoto K., Hirose K., Uono M., Nonaka I. A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. Arch Neurol. 41:1984;1292-1293.
-
(1984)
Arch Neurol
, vol.41
, pp. 1292-1293
-
-
Takamoto, K.1
Hirose, K.2
Uono, M.3
Nonaka, I.4
-
13
-
-
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. 8:1994;323-327.
-
(1994)
Nat Genet
, vol.8
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
-
14
-
-
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 V.M.A., et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet. 4:1995;1859-1863.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1859-1863
-
-
Bione, S.1
Small, K.2
Aksmanovic, V.M.A.3
-
15
-
-
0028892092
-
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
-
Klauck S.M., Wilgenbus P., Yates J.R.W., Muller C.R., Poustka A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet. 4:1995;1853-1857.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1853-1857
-
-
Klauck, S.M.1
Wilgenbus, P.2
Yates, J.R.W.3
Muller, C.R.4
Poustka, A.5
-
16
-
-
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. 4:1995;2003-2004.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
-
18
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 162:1987;156-159.
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
19
-
-
0031935231
-
Steroid responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue
-
Al-Lozi M.T., Hemelt V.B., Pestronk A. Steroid responsive myopathy with deficient chondroitin sulfate C in skeletal muscle connective tissue. Neurology. 50:1998;526-529.
-
(1998)
Neurology
, vol.50
, pp. 526-529
-
-
Al-Lozi, M.T.1
Hemelt, V.B.2
Pestronk, A.3
-
20
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
-
Voit T., Krogmann O., Lenard H.G., Neuen-Jacob E. Emery-Dreifuss muscular dystrophy Disease spectrum and differential diagnosis . Neuropediatrics. 19:1988;62-71.
-
(1988)
Neuropediatrics
, vol.19
, pp. 62-71
-
-
Voit, T.1
Krogmann, O.2
Lenard, H.G.3
Neuen-Jacob, E.4
-
21
-
-
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. 12:1996;254-259.
-
(1996)
Nat Genet
, vol.12
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
-
22
-
-
0031056554
-
A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy
-
Ichikawa Y., Watanabe M., Kowa H., et al. A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy. Ann Neurol. 41:1997;399-402.
-
(1997)
Ann Neurol
, vol.41
, pp. 399-402
-
-
Ichikawa, Y.1
Watanabe, M.2
Kowa, H.3
-
23
-
-
0031005848
-
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
-
Small K., Iber J., Warren S.T. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nat Genet. 16:1997;96-100.
-
(1997)
Nat Genet
, vol.16
, pp. 96-100
-
-
Small, K.1
Iber, J.2
Warren, S.T.3
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