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X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)
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Emery-Dreifuss syndrome
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European workshop on Emery-Dreifuss muscular dystrophy 1991
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Yates JRW: European workshop on Emery-Dreifuss muscular dystrophy 1991. Neuromusc Disord 1991, 1:393-396.
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43rd ENMC international workshop on Emery-Dreifuss muscular dystrophy, 22 June 1996, Naarden, the Netherlands
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Yates JRW: 43rd ENMC international workshop on Emery-Dreifuss muscular dystrophy, 22 June 1996, Naarden, The Netherlands. Neuromusc Disord 1997, 7:67-69. During the preparation of this manuscript, the workshop report summarizing the latest research progress on EDMD was published.
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Yates, J.R.W.1
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Autosomal dominant Emery-Dreifuss syndrome: Evidence of a neurogenic variant of the disease
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Witt TN, Garner CG, Pongratz D, Baur X: Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease. Eur Arch Psychiatry Neurol Sci 1988, 237:230-236.
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Witt, T.N.1
Garner, C.G.2
Pongratz, D.3
Baur, X.4
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6
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0030443802
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Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?
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Spranger M, Spranger S, Ziegan J, Lössner J, Meinck HM: Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome? Clin Genet 1996, 50:229-231.
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Spranger, M.1
Spranger, S.2
Ziegan, J.3
Lössner, J.4
Meinck, H.M.5
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7
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0026079202
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Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: The results of collaborative study
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Consalez GG, Thomas NS, Stayton CL, Knight SJ, Johnson M, Hopkins LC, Harper PS, Elsas LJ, Warren ST: Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of collaborative study. Am J Hum Genet 1991, 48:468-480.
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Consalez, G.G.1
Thomas, N.S.2
Stayton, C.L.3
Knight, S.J.4
Johnson, M.5
Hopkins, L.C.6
Harper, P.S.7
Elsas, L.J.8
Warren, S.T.9
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8
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0027524597
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Transcriptional organization of a 450-kb region of the human X chromosome in Xq28
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Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D: Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci USA 1993, 90:10977-10981.
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Bione, S.1
Tamanini, F.2
Maestrini, E.3
Tribioli, C.4
Poustka, A.5
Torri, G.6
Rivella, S.7
Toniolo, D.8
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9
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0027985787
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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
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Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Gene 1994, 8:323-327.
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(1994)
Nature Gene
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Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
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10
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0028865862
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Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
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Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren S, Toniolo D: 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.
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(1995)
Hum Mol Genet
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Bione, S.1
Small, K.2
Aksmanovic, V.M.A.3
D'Urso, M.4
Ciccodicola, A.5
Merlini, L.6
Morandi, L.7
Kress, W.8
Yates, J.R.W.9
Warren, S.10
Toniolo, D.11
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11
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0028892092
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Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
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Klauck SM, Wilgenbus P, Yates JRW, Müller CR, Poustka A: Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1995, 4:1853-1857.
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(1995)
Hum Mol Genet
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Klauck, S.M.1
Wilgenbus, P.2
Yates, J.R.W.3
Müller, C.R.4
Poustka, A.5
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12
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0028892101
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SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: Definition of a small C-terminal region required for emerin function
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Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M: 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.
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(1995)
Hum Mol Genet
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Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
Politano, L.4
Nigro, G.5
Piluso, G.6
Cappa, V.7
Covone, A.E.8
Romeo, G.9
D'Urso, M.10
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13
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0029988796
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A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy
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Yamada T, Kobayashi T: A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum Genet 1996, 97:693-694. A new mutation in the STA gene was identified in a patient with EDMD.
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(1996)
Hum Genet
, vol.97
, pp. 693-694
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Yamada, T.1
Kobayashi, T.2
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14
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0010397284
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The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
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Manilal S, Nguyen TM, Sewry CA, Morris GE: The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808. A panel of monoclonal antibodies against emerin was established, and they reported essentially the same results as [16**]. Rabbit tissues were also used for biochemical analyses.
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(1996)
Hum Mol Genet
, vol.5
, pp. 801-808
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Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
Morris, G.E.4
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15
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0028989340
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Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope
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Furukawa K, Panté N, Aebi U, Gerace L: Cloning of a cDNA for lamina-associated polypeptide 2 (LAP2) and identification of regions that specify targeting to the nuclear envelope. EMBO J 1995, 14:1626-1636.
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Furukawa, K.1
Panté, N.2
Aebi, U.3
Gerace, L.4
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16
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0029874852
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Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
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Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K: Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996, 12:254-259. By immunohistochemistry and Western blot, we identified emerin as a 34 kDa nuclear membrane protein in skeletal and cardiac muscle, and in other tissues. A new non-sense mutation was found, and emerin was shown to be absent in the patients' tissues.
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(1996)
Nat Genet
, vol.12
, pp. 254-259
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Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, J.5
Okada, R.6
Hayashi, Y.K.7
Tsukahara, T.8
Arahata, K.9
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17
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0023877613
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Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
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Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H: Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 1988, 333:861-863.
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(1988)
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Arahata, K.1
Ishiura, S.2
Ishiguro, T.3
Tsukahara, T.4
Suhara, Y.5
Eguchi, C.6
Ishihara, T.7
Nonaka, I.8
Ozawa, E.9
Sugita, H.10
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18
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0028300477
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Three distinct human thymopoietins are derived from alternatively spliced mRNAs
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Harris CA, Andryuk PJ, Cline S, Karen Chan H, Natarajan A, Siekierka JJ, Goldstein G: Three distinct human thymopoietins are derived from alternatively spliced mRNAs. Proc Natl Acad Sci USA 1994, 91:6283-6287.
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(1994)
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Harris, C.A.1
Andryuk, P.J.2
Cline, S.3
Karen Chan, H.4
Natarajan, A.5
Siekierka, J.J.6
Goldstein, G.7
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19
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0027276759
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Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
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Foisner R, Gerace L: Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 1993, 73:1267-1279.
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(1993)
Cell
, vol.73
, pp. 1267-1279
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Foisner, R.1
Gerace, L.2
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20
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0029155876
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Structure and mapping of the human thymopoietin (TMPO) gene and relationship of human TMPOβ to rat lamin-associated polypeptide 2
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Harris CA, Andryuk PJ, Cline SW, Mathew S, Siekierka JJ, Goldstein G: Structure and mapping of the human thymopoietin (TMPO) gene and relationship of human TMPOβ to rat lamin-associated polypeptide 2. Genomics 1995, 28:198-205.
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(1995)
Genomics
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Harris, C.A.1
Andryuk, P.J.2
Cline, S.W.3
Mathew, S.4
Siekierka, J.J.5
Goldstein, G.6
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21
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0030940131
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Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies
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Manilal S, Sewry CA, Nguyen TM, Muntoni F, Morris GE: Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies. Neuromusc Disord 1997, 7:63-66. The authors showed that protein analysis of emerin was similarly performed with easily obtainable sources, such as leukocytes and skin biopsy samples.
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(1997)
Neuromusc Disord
, vol.7
, pp. 63-66
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Manilal, S.1
Sewry, C.A.2
Nguyen, T.M.3
Muntoni, F.4
Morris, G.E.5
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22
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0028914964
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Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
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Campbell KP: Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 1995, 80:675-679.
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(1995)
Cell
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Campbell, K.P.1
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23
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0031017220
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Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure
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Maniotis AJ, Chen CS, Ingber DE: Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure. Proc Natl Acad Sci USA 1997, 94:849-854.
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(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 849-854
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Maniotis, A.J.1
Chen, C.S.2
Ingber, D.E.3
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24
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0031005848
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Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats
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Small K, Iber J, Warren T: Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats. Nature Genet 1997, 15:96-99. The complete deletion of emerin gene was found to be caused by the mispairing and recombination of large inverted repeats.
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(1997)
Nature Genet
, vol.15
, pp. 96-99
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Small, K.1
Iber, J.2
Warren, T.3
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25
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0031133929
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Isolation and characterization of the complete mouse emerin gene
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Small K, Wagener M, Warren T: Isolation and characterization of the complete mouse emerin gene. Mammalian Genome 1997, 8:337-341. The mouse emerin cDNA and gene were analysed. The amino acid sequence identity is 73% between human and mouse emerins. The exon intron organization and the promoter composition are also similar.
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(1997)
Mammalian Genome
, vol.8
, pp. 337-341
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Small, K.1
Wagener, M.2
Warren, T.3
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26
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0031056554
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A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene
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Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I: A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene. Ann Neurol 1997, 41:399-402. An 11 bp deletion with a frameshift was identified in a Japanese family with EDMD.
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(1997)
Ann Neurol
, vol.41
, pp. 399-402
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Ichikawa, Y.1
Watanabe, M.2
Kowa, H.3
Murayama, S.4
Mizuno, T.5
Komuro, I.6
Ishiki, R.7
Goto, J.8
Kanazawa, I.9
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