-
1
-
-
0003524984
-
Muscle biopsy: A practical approach
-
London: Bailliére Tindall
-
Dubowitz V: Muscle biopsy: a practical approach. In The Muscular Dystrophies. London: Bailliére Tindall; 1985:289-404.
-
(1985)
The Muscular Dystrophies
, pp. 289-404
-
-
Dubowitz, V.1
-
2
-
-
0028835527
-
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
-
Bushby KMD: Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC consortium on limb-girdle dystrophies. Neuromuscular Dis 1995, 5:71-74.
-
(1995)
Neuromuscular Dis
, vol.5
, pp. 71-74
-
-
Bushby, K.M.D.1
-
3
-
-
0029334512
-
The limb girdle muscular dystrophies: Proposal for a new nomenclature
-
Bushby KM, Beckmann JS: The limb girdle muscular dystrophies: proposal for a new nomenclature. Neuromuscul Drsord 1995, 4:337-343.
-
(1995)
Neuromuscul Drsord
, vol.4
, pp. 337-343
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
5
-
-
0000801692
-
Dystrophinopathies
-
Edited by Engel AG, Franzini-Armstrong C. New York: McGraw Hill
-
Engel AG, Yamamoto M, Fischbeck KH: Dystrophinopathies. In Myology. edn 2. Edited by Engel AG, Franzini-Armstrong C. New York: McGraw Hill; 1994:1133-1187.
-
(1994)
Myology. Edn 2
, pp. 1133-1187
-
-
Engel, A.G.1
Yamamoto, M.2
Fischbeck, K.H.3
-
6
-
-
0029936606
-
Dystrophin and its isoforms
-
Sadoulet-Puccio HM, Kunkel LM: Dystrophin and its isoforms. Brain Pathol 1996, 6:25-35. An up-to-date review of dystrophin's gene structure, isoform expression, and protein domains.
-
(1996)
Brain Pathol
, vol.6
, pp. 25-35
-
-
Sadoulet-Puccio, H.M.1
Kunkel, L.M.2
-
7
-
-
0028877455
-
Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
-
Worton R: Muscular dystrophies: diseases of the dystrophin-glycoprotein complex. Science 1995, 270:755-756. A concise review of the dystrophin-glycoprotein complex and its role as the cause of several muscular dystrophies.
-
(1995)
Science
, vol.270
, pp. 755-756
-
-
Worton, R.1
-
8
-
-
0030444937
-
Beyond dystrophin: Current progress in the muscular dystrophies
-
Bonnemann CG, McNally EM, Kunkel LM: Beyond dystrophin: current progress in the muscular dystrophies. Curr Opin Pediatr 1997, 8:569-582.
-
(1997)
Curr Opin Pediatr
, vol.8
, pp. 569-582
-
-
Bonnemann, C.G.1
McNally, E.M.2
Kunkel, L.M.3
-
9
-
-
0029089582
-
Dystrophin-associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Hagiwara Y, Suzuki A, Mizuno Y, Noguchi S: Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995, 4:1711-1716.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Hagiwara, Y.3
Suzuki, A.4
Mizuno, Y.5
Noguchi, S.6
-
10
-
-
0027470203
-
The structural and functional diversity of dystrophin
-
Ahn AH, Kunkel LM: The structural and functional diversity of dystrophin. Nature Genet 1993, 3:283-291.
-
(1993)
Nature Genet
, vol.3
, pp. 283-291
-
-
Ahn, A.H.1
Kunkel, L.M.2
-
11
-
-
0027980295
-
Increasing complexity of the dystrophin-associated protein complex
-
Tinsley JM, Blake DJ, Zuollig RA, Davies KE: Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci USA 1994, 91:8307-8313.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8307-8313
-
-
Tinsley, J.M.1
Blake, D.J.2
Zuollig, R.A.3
Davies, K.E.4
-
12
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RJ, Kunkel LM: Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51:919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown, R.J.2
Kunkel, L.M.3
-
13
-
-
0029114103
-
A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
-
Muntoni F, Wilson L, Marrosu G, Marrosu MG, Cianchetti C, Mestroni L, Ganau A, Dubowitz V, Sewry C: A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 1995, 96:693-699.
-
(1995)
J Clin Invest
, vol.96
, pp. 693-699
-
-
Muntoni, F.1
Wilson, L.2
Marrosu, G.3
Marrosu, M.G.4
Cianchetti, C.5
Mestroni, L.6
Ganau, A.7
Dubowitz, V.8
Sewry, C.9
-
14
-
-
0030028518
-
A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
-
Milasin J, Muntoni F, Severini M, Bartolini L, Vatta M, Krajinovic M, Mateddu A, Angelini C, Camerini F, Falaschi A, et al.: A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 1996, 5:73-79. Previous reports had shown that deletions involving muscle exon 1 and intron 1 of the dystrophin gene can cause XLDCM. These authors show that a single point mutation in the dystrophin gene can suppress the expression of full-length dystiophin in the heart and upregulate the expression of nonmuscle isoforms of dystrophin in skeletal muscle. Notably. the proband had a normal creatine phosphokinase, whereas his brother had a mildly elevated serum creatine phosphokinase and myopathic muscle biopsy.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 73-79
-
-
Milasin, J.1
Muntoni, F.2
Severini, M.3
Bartolini, L.4
Vatta, M.5
Krajinovic, M.6
Mateddu, A.7
Angelini, C.8
Camerini, F.9
Falaschi, A.10
-
15
-
-
0027193330
-
X-linked dilated cardiomyopathy: Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
-
Towbin JA, Hejtmancik JF, Brink P. Gelb B, Zhu XM, Chamberlain JS, McCabe ERB. Swift M: X-linked dilated cardiomyopathy: molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993, 87:1854-1993.
-
(1993)
Circulation
, vol.87
, pp. 1854-1993
-
-
Towbin, J.A.1
Hejtmancik, J.F.2
Brink, P.3
Gelb, B.4
Zhu, X.M.5
Chamberlain, J.S.6
McCabe, E.R.B.7
Swift, M.8
-
16
-
-
0029101329
-
X-linked dilated cardiomyopathy: Novel mutation of the dystrophin gene
-
Franz WM, Cremer M, Herrmann R, Grunig E, Fogel W, Scheffold T, Goebel HH, Kircheisen R, Kubler W, Voit T, Katus HA: X-linked dilated cardiomyopathy: novel mutation of the dystrophin gene. Ann N Y Acad Sci 1996, 752:470-491. Unlike previously reported XLDCM families who had an absence of cardiac dystrophin with upregulation of nonmuscle isoforms in skeletal muscle, this family was found to express dystrophin in both cardiac and skeletal muscle, albeit in reduced amounts. The dystrophin was qualitatively abnormal, with a loss of antibody binding in the middle rod domain. The mutation was not identified.
-
(1996)
Ann N Y Acad Sci
, vol.752
, pp. 470-491
-
-
Franz, W.M.1
Cremer, M.2
Herrmann, R.3
Grunig, E.4
Fogel, W.5
Scheffold, T.6
Goebel, H.H.7
Kircheisen, R.8
Kubler, W.9
Voit, T.10
Katus, H.A.11
-
17
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: Dystrophin gene and protein studies
-
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM: Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991, 49:54-67.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 54-67
-
-
Beggs, A.H.1
Hoffman, E.P.2
Snyder, J.R.3
Arahata, K.4
Specht, L.5
Shapiro, F.6
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
-
18
-
-
0014056078
-
The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy
-
Perloff JK, Roberts WC, de Leon AC Jr, O'Doherty D: The distinctive electrocardiogram of Duchenne's progressive muscular dystrophy. Am J Med 1967, 42:179-188.
-
(1967)
Am J Med
, vol.42
, pp. 179-188
-
-
Perloff, J.K.1
Roberts, W.C.2
De Leon Jr., A.C.3
O'Doherty, D.4
-
19
-
-
0025017751
-
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
-
Nigro G, Comi LI, Politano L, Bain RJI: The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy, Int J Cardiol 1990, 26:271-277.
-
(1990)
Int J Cardiol
, vol.26
, pp. 271-277
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Bain, R.J.I.4
-
20
-
-
0028819577
-
Evaluation of the cardiomyopathy in Becker muscular dystrophy
-
Nigro G, Comi LI, Politano L, Limogelli FM, Nigro V, De Rimini ML, Giugliano MAM, Petretta VR, Passamano L, Restucci B, et al.: Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 1995, 18:283-291.
-
(1995)
Muscle Nerve
, vol.18
, pp. 283-291
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Limogelli, F.M.4
Nigro, V.5
De Rimini, M.L.6
Giugliano, M.A.M.7
Petretta, V.R.8
Passamano, L.9
Restucci, B.10
-
21
-
-
8044224015
-
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
-
Melacini P, Fanin M, Danieli GA, Villanova C, Matinello F, Miorin M, Freda MP, Miorelli M, Mostacciuolo ML, Fasoli G, et al.: Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996, 94:3168-3175.
-
(1996)
Circulation
, vol.94
, pp. 3168-3175
-
-
Melacini, P.1
Fanin, M.2
Danieli, G.A.3
Villanova, C.4
Matinello, F.5
Miorin, M.6
Freda, M.P.7
Miorelli, M.8
Mostacciuolo, M.L.9
Fasoli, G.10
-
22
-
-
0029970718
-
Cardiac dysfunction in Becker muscular dystrophy
-
Saito M, Kawai H, Akaike M, Adachi K, Nishida Y, Saito S: Cardiac dysfunction in Becker muscular dystrophy. Am Heart J 1996, 132:642-647. A comparison of electrocardiographic and echocardiographic data from 21 BMD and 43 DMD patients leads these authors to propose that cardiac disease progression differs in these two allelic disorders.
-
(1996)
Am Heart J
, vol.132
, pp. 642-647
-
-
Saito, M.1
Kawai, H.2
Akaike, M.3
Adachi, K.4
Nishida, Y.5
Saito, S.6
-
23
-
-
0026485475
-
Cardiac transplantation in Becker muscular dystrophy
-
Quinlivan RM, Dubowitz V: Cardiac transplantation in Becker muscular dystrophy. Neuromuscular Dis 1992, 2:165-167.
-
(1992)
Neuromuscular Dis
, vol.2
, pp. 165-167
-
-
Quinlivan, R.M.1
Dubowitz, V.2
-
24
-
-
0028132560
-
Mutation of the dystrophin gene and cardiomyopathy
-
Nigro G, Politano L, Nigro V, Petratta VR, Comi LI: Mutation of the dystrophin gene and cardiomyopathy. Neuromuscul Disord 1994, 4:371-379.
-
(1994)
Neuromuscul Disord
, vol.4
, pp. 371-379
-
-
Nigro, G.1
Politano, L.2
Nigro, V.3
Petratta, V.R.4
Comi, L.I.5
-
25
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
Politano L, Nigro V, Nigro G, Petretta VR, Paasamano L, Papparella S, Di Somma S, Corni LI: Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996, 275:1335-1338. Cardiac assessment of 152 DMD and 45 BMD female carriers over a 10-year period reveals a surprisingly high frequency of cardiac involvement, which progresses over time and is similar to that seen in affected male patients. The authors suggest that dystrophin testing should be considered in women with idiopathic cardiomyopathy.
-
(1996)
JAMA
, vol.275
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
Petretta, V.R.4
Paasamano, L.5
Papparella, S.6
Di Somma, S.7
Corni, L.I.8
-
26
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP: Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992, 42:967-975.
-
(1992)
Neurology
, vol.42
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
Bonilla, E.4
Rowland, L.P.5
-
27
-
-
0028812128
-
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy
-
Muntoni F, Melis M, Ganau A, Dubowitz V: Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 1995, 56:151-157.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 151-157
-
-
Muntoni, F.1
Melis, M.2
Ganau, A.3
Dubowitz, V.4
-
28
-
-
0027265702
-
Brief report: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
-
Muntoni F, Cau M, Ganau A, Congui R, Arvedi G, Mateddu A, Marrosu M, Cianchetti C, Realdi G, Cao A, Melis M: Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993, 329:921-925.
-
(1993)
N Engl J Med
, vol.329
, pp. 921-925
-
-
Muntoni, F.1
Cau, M.2
Ganau, A.3
Congui, R.4
Arvedi, G.5
Mateddu, A.6
Marrosu, M.7
Cianchetti, C.8
Realdi, G.9
Cao, A.10
Melis, M.11
-
29
-
-
0028134623
-
Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy
-
Cox GA, Sunada Y, Campbell KP, Chamberlain JS: Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy. Nature Genet 1994, 8:333-339.
-
(1994)
Nature Genet
, vol.8
, pp. 333-339
-
-
Cox, G.A.1
Sunada, Y.2
Campbell, K.P.3
Chamberlain, J.S.4
-
30
-
-
0028051872
-
Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice
-
Greenberg DS, Sunada Y, Campbell KP, Yaffe D, Nudel U: Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice. Nature Genet 1994, 8:340-344.
-
(1994)
Nature Genet
, vol.8
, pp. 340-344
-
-
Greenberg, D.S.1
Sunada, Y.2
Campbell, K.P.3
Yaffe, D.4
Nudel, U.5
-
31
-
-
0029824347
-
Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene
-
Klamut HJ, Bosnoyan-Collins LO, Worton RG, Ray PN, Davis HL: Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene. Hum Mol Genet 1996, 5:1599-1606. These authors discover a transcriptional regulatory sequence that is located in the same region of the dystrophin gene as mutations that cause XLDCM.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1599-1606
-
-
Klamut, H.J.1
Bosnoyan-Collins, L.O.2
Worton, R.G.3
Ray, P.N.4
Davis, H.L.5
-
32
-
-
0027482335
-
Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy
-
Yoshida K, Ikeda S, Nakamura A, Kagoshima M, Takeda S, Shoji S, Yanagisawa N: Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993, 16:1161-1166.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1161-1166
-
-
Yoshida, K.1
Ikeda, S.2
Nakamura, A.3
Kagoshima, M.4
Takeda, S.5
Shoji, S.6
Yanagisawa, N.7
-
33
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Huffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987, 50:509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Huffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
34
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkel LM: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988, 53:219-226.
-
(1988)
Cell
, vol.53
, pp. 219-226
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
35
-
-
0027460658
-
Dystrophin protects the sarcolemma from stress developed during muscle contraction
-
Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeney HL: Dystrophin protects the sarcolemma from stress developed during muscle contraction. Proc Natl Acad Sci U S A 1993, 90:3710-3714.
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 3710-3714
-
-
Petrof, B.J.1
Shrager, J.B.2
Stedman, H.H.3
Kelly, A.M.4
Sweeney, H.L.5
-
36
-
-
0029149471
-
Nitric oxide synthase completed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
-
Brenman JE, Chao DS, Xia H, Aldape X, Bredt DS: Nitric oxide synthase completed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 1995, 82:743-752.
-
(1995)
Cell
, vol.82
, pp. 743-752
-
-
Brenman, J.E.1
Chao, D.S.2
Xia, H.3
Aldape, X.4
Bredt, D.S.5
-
37
-
-
15844401780
-
Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
-
Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chatel M, Chu C, Kohtz DS, Lisanti MP Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem 1996, 271:15160-15165. These authors present biochemical and immunocytochemical evidence that caveolin and dystrophin are associated. This finding connects dystrophin to signal transduction pathways and possibly calcium regulation.
-
(1996)
J Biol Chem
, vol.271
, pp. 15160-15165
-
-
Song, K.S.1
Scherer, P.E.2
Tang, Z.3
Okamoto, T.4
Li, S.5
Chatel, M.6
Chu, C.7
Kohtz, D.S.8
Lisanti, M.P.9
-
38
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, et al.: Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270:819-822. Another dystrophin-associated protein is found to be a cause of autosomal recessive LGMD.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
Hagiwara, Y.4
Mizuno, Y.5
Yoshida, M.6
Yamamoto, H.7
Bönnemann, C.G.8
Gussoni, E.9
Denton, P.H.10
-
39
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estornet B, Barois A, Campbell KP, Fardeau M: Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III (Paris) 1994, 317:251-357.
-
(1994)
C R Acad Sci III (Paris)
, vol.317
, pp. 251-357
-
-
Tomé, F.M.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estornet, B.6
Barois, A.7
Campbell, K.P.8
Fardeau, M.9
-
40
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FMS, Romero NB, et al.: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994, 78:625-633.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
Piccolo, F.4
Jeanpierre, M.5
Anderson, R.D.6
Lim, L.E.7
Lee, J.C.8
Tomé, F.M.S.9
Romero, N.B.10
-
41
-
-
0028971221
-
β-sarcoglycan (43 DAG): Characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Tome F, Fardeau M, et al.: β-sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nature Genet 1995, 11:257-265. Another dystrophin associated protein is identified as a cause of autosomal recessive LGMD.
-
(1995)
Nature Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
Meyer, J.7
Richard, I.8
Tome, F.9
Fardeau, M.10
-
42
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, et al.: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 1995, 11:266-273 Another dystrophin-associated protein is identified as a cause of autosomal recessive LGMD.
-
(1995)
Nature Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
McNally, E.M.7
Duggan, D.J.8
Angelini, C.9
Hoffman, E.P.10
-
43
-
-
0029816797
-
The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, de Sa Moriera E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos Bueno MR, Zatz M: The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 1996, 14:195-198. Another dystrophin-associated protein is found to be a cause of autosomal recessive LGMD.
-
(1996)
Nature Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
De Sa Moriera, E.2
Piluso, G.3
Vainzof, M.4
Belsito, A.5
Politano, L.6
Puca, A.A.7
Passos Bueno, M.R.8
Zatz, M.9
-
44
-
-
0028980027
-
Mutations in the laminin alpha-2 chain gene (LAMA2) cause merosindeficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al.: Mutations in the laminin alpha-2 chain gene (LAMA2) cause merosindeficient congenital muscular dystrophy. Nature Genet 1995, 11:216-218. Confirmation that one type of CMD is caused by a defect in lamimn alpha-2 chain, the extracellular attachment site of the dystrophin-glycoprotein complex.
-
(1995)
Nature Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
Cruaud, C.4
Tesson, F.5
Weissenbach, J.6
Tome, F.M.7
Schwartz, K.8
Fardeau, M.9
Tryggvason, K.10
-
45
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP: A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993, 122:809-823.
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
46
-
-
0025250185
-
Improved diagnosis of Duchenne/Becker muscular dystrophy
-
Beggs AH, Kunkel LM: Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest 1990, 85:613-619.
-
(1990)
J Clin Invest
, vol.85
, pp. 613-619
-
-
Beggs, A.H.1
Kunkel, L.M.2
-
47
-
-
0002503692
-
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
-
Edited by Innis MA, Gelfand DH, Sninsky JT, White TJ, New York: Academic Press
-
Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT: Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In PCR Protocols: A Guide to Methods and Applications. Edited by Innis MA, Gelfand DH, Sninsky JT, White TJ, New York: Academic Press; 1990:272-281
-
(1990)
PCR Protocols: A Guide to Methods and Applications
, pp. 272-281
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Caskey, C.T.4
-
48
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti GS, Moser H, Kunkel LM: An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti, G.S.3
Moser, H.4
Kunkel, L.M.5
-
49
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariamen H, et al.: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989, 45:498-506.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Heindrich, K.5
Bettecken, T.6
Meng, G.7
Muller, C.R.8
Lindlof, M.9
Kaariamen, H.10
-
50
-
-
0029020724
-
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein-truncation test
-
Gardner RJ, Bobrow M, Roberts RM: The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein-truncation test. Am J Hum Genet 1995, 57:311-320.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 311-320
-
-
Gardner, R.J.1
Bobrow, M.2
Roberts, R.M.3
-
51
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
Vainzof M, Passos-Bueno MR, Moreira ES, Pavanello RCM, Marie SK, Anderson LVB, Bönnemann CG, McNally EM, Nigro V, Kunkel LM, et al.: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, 5:1963-1969.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Moreira, E.S.3
Pavanello, R.C.M.4
Marie, S.K.5
Anderson, L.V.B.6
Bönnemann, C.G.7
McNally, E.M.8
Nigro, V.9
Kunkel, L.M.10
-
52
-
-
0015261497
-
X-chromosome inactivation and developmental patterns in mammals
-
Lyon MF X-chromosome inactivation and developmental patterns in mammals. Biol Rev Camb Philos Soc 1972, 47:1-35.
-
(1972)
Biol Rev Camb Philos Soc
, vol.47
, pp. 1-35
-
-
Lyon, M.F.1
-
53
-
-
0027374166
-
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
-
Mirabella M, Servidei S, Manfredi G, RICCI E, Frustaci A, Bertini E, Rana M, Tonali P: Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993, 43:2342-2345.
-
(1993)
Neurology
, vol.43
, pp. 2342-2345
-
-
Mirabella, M.1
Servidei, S.2
Manfredi, G.3
Ricci, E.4
Frustaci, A.5
Bertini, E.6
Rana, M.7
Tonali, P.8
-
54
-
-
0027422079
-
Dystrophin analysis in idiopathic dilated cardiomyopathy
-
Michels VV, Pastores GM, Moll PP, Driscoll DJ, Miller FA, Burnett JC, Rodeheffer RJ, Tajik TA, Beggs AH, Kunkel LM, et al.: Dystrophin analysis in idiopathic dilated cardiomyopathy. J Med Genet 1993, 30:955-957.
-
(1993)
J Med Genet
, vol.30
, pp. 955-957
-
-
Michels, V.V.1
Pastores, G.M.2
Moll, P.P.3
Driscoll, D.J.4
Miller, F.A.5
Burnett, J.C.6
Rodeheffer, R.J.7
Tajik, T.A.8
Beggs, A.H.9
Kunkel, L.M.10
-
55
-
-
0010317205
-
Searching for dystrophin gene deletions in patients with atypical presentations
-
Edited by Lindsten J, Pettersson U. New York: Raven Press
-
Kunkel LM, Snyder JR, Beggs AH, Boyce FM, Feener CA: Searching for dystrophin gene deletions in patients with atypical presentations. In Etiology of Human Disease at the DNA Level. Edited by Lindsten J, Pettersson U. New York: Raven Press; 1991:51-59.
-
(1991)
Etiology of Human Disease at the DNA Level
, pp. 51-59
-
-
Kunkel, L.M.1
Snyder, J.R.2
Beggs, A.H.3
Boyce, F.M.4
Feener, C.A.5
-
56
-
-
0029994718
-
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
-
van der Kooi AT, Ledderhof TM, de Voogt WG, Res CJ, Bouwsma G, Troost D, Busch HF, Becker AE, de Visser M: A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996, 39:636-642. Phenotypic characterization of a large family with a dominantly inherited form of LGMD that is associated with cardiac conduction system abnormalities, resulting in dysrhythmias. atrioventricular block, and sudden death. The pattern of cardiac involvement resembles myotonic dystrophy and EDMD.
-
(1996)
Ann Neurol
, vol.39
, pp. 636-642
-
-
Van Der Kooi, A.T.1
Ledderhof, T.M.2
De Voogt, W.G.3
Res, C.J.4
Bouwsma, G.5
Troost, D.6
Busch, H.F.7
Becker, A.E.8
De Visser, M.9
-
57
-
-
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 Meegan M, Ledderhof TM, McNally EM, DeVisser 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 Meegan, M.2
Ledderhof, T.M.3
McNally, E.M.4
Devisser, M.5
Bolhuis, P.A.6
-
58
-
-
0029963979
-
Juvenile limb girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
-
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tomé FMS, Richard I. et al.: Juvenile limb girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996, 119:295-308.
-
(1996)
Brain
, vol.119
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
Feingold, N.4
Feingold, J.5
Mignard, D.6
De Ubeda, B.7
Collin, H.8
Tomé, F.M.S.9
Richard, I.10
-
59
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud C, Roudaut C, et al.: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81:27-40.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, C.9
Roudaut, C.10
-
60
-
-
0027276561
-
Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle
-
Sorimachi H, Toyama-Sorimachi N, Saido TC, Kawasaki H, Sugita H, Miyasaki M, Arahata K, Ishiura S, Suzuki K: Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle. J Biol Chem 1993, 268:10593-10605.
-
(1993)
J Biol Chem
, vol.268
, pp. 10593-10605
-
-
Sorimachi, H.1
Toyama-Sorimachi, N.2
Saido, T.C.3
Kawasaki, H.4
Sugita, H.5
Miyasaki, M.6
Arahata, K.7
Ishiura, S.8
Suzuki, K.9
-
61
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K, et al.: Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem 1995, 270:31158-31162.
-
(1995)
J Biol Chem
, vol.270
, pp. 31158-31162
-
-
Sorimachi, H.1
Kinbara, K.2
Kimura, S.3
Takahashi, M.4
Ishiura, S.5
Sasagawa, N.6
Sorimachi, N.7
Shimada, H.8
Tagawa, K.9
Maruyama, K.10
-
62
-
-
0030051194
-
Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
-
Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP: Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med 1996, 334:362-366. The first report in humans implicating the sarcoglycan complex as a primary cause of cardiomyopathy in a teenage boy with mild LGMD. The BIO 14.6 hamster, an animal model for autosomal recessive muscular dystrophy and cardiomyopathy, was recently shown to have a primary deficiency of δ-sarcoglycan (see Nigro et al. [Hum Mol Genet 1997, 16:601-608]).
-
(1996)
N Engl J Med
, vol.334
, pp. 362-366
-
-
Fadic, R.1
Sunada, Y.2
Waclawik, A.J.3
Buck, S.4
Lewandoski, P.J.5
Campbell, K.P.6
Lotz, B.P.7
-
63
-
-
0027932422
-
Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle
-
Mizuno Y, Noguchi S, Yamamoto H, Yoshida M, Suzuki A, Hagiwara Y, Hayashi YK, Arahata K, Nonaka I, Hirai S, et al.: Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994, 203:979-983.
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 979-983
-
-
Mizuno, Y.1
Noguchi, S.2
Yamamoto, H.3
Yoshida, M.4
Suzuki, A.5
Hagiwara, Y.6
Hayashi, Y.K.7
Arahata, K.8
Nonaka, I.9
Hirai, S.10
-
64
-
-
0027280389
-
Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster
-
Roberds SL, Ervasti JM, Anderson RD, Ohlendieck K, Kahl SD, Zoloto D, Campbell KP: Disruption of the dystrophin-glycoprotein complex in the cardiomyopathic hamster. J Biol Chem 1993, 268:11469-11499.
-
(1993)
J Biol Chem
, vol.268
, pp. 11469-11499
-
-
Roberds, S.L.1
Ervasti, J.M.2
Anderson, R.D.3
Ohlendieck, K.4
Kahl, S.D.5
Zoloto, D.6
Campbell, K.P.7
-
65
-
-
8244259185
-
Identification of the Syrian hamster cardiomyopathy gene
-
Nigro V, Okazaki Y, Belsito A, Piluso G, Matsuda Y, Politano L, Nigro G, Ventura C, Abbondanza C, Molinari AM, et al.: Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997, 16:601-608.
-
(1997)
Hum Mol Genet
, vol.16
, pp. 601-608
-
-
Nigro, V.1
Okazaki, Y.2
Belsito, A.3
Piluso, G.4
Matsuda, Y.5
Politano, L.6
Nigro, G.7
Ventura, C.8
Abbondanza, C.9
Molinari, A.M.10
-
66
-
-
0026002798
-
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population
-
Arikawa E, Hoffmam EP, Kaido M, Nonaka I, Sugita H, Arahata K: The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41.1491-1496.
-
(1991)
Neurology
, vol.41
, pp. 1491-1496
-
-
Arikawa, E.1
Hoffmam, E.P.2
Kaido, M.3
Nonaka, I.4
Sugita, H.5
Arahata, K.6
-
67
-
-
0028049493
-
Left ventricular structure and function by echocardiography in congenital muscular dystrophy
-
Cil E, Topaloglu H, Caglar M, Ozme S: Left ventricular structure and function by echocardiography in congenital muscular dystrophy. Brain Dev 1994, 16:301-303.
-
(1994)
Brain Dev
, vol.16
, pp. 301-303
-
-
Cil, E.1
Topaloglu, H.2
Caglar, M.3
Ozme, S.4
-
68
-
-
0030220589
-
41 st ENMC international workshop on congenital muscular dystrophy
-
Dubowitz V: 41 st ENMC international workshop on congenital muscular dystrophy. Neuromuscul Disord 1996, 6:295-306.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 295-306
-
-
Dubowitz, V.1
-
69
-
-
0030062621
-
Congenital muscular dystrophy with cerebral white matter hypodensity: Correlation of clinical features and merosin deficiency
-
Reed UC, Marie SK, Vainzof M, Salum PB, Levy JA, Zatz M, Diament A: Congenital muscular dystrophy with cerebral white matter hypodensity: correlation of clinical features and merosin deficiency. Brain Dev 1996, 18:53-58.
-
(1996)
Brain Dev
, vol.18
, pp. 53-58
-
-
Reed, U.C.1
Marie, S.K.2
Vainzof, M.3
Salum, P.B.4
Levy, J.A.5
Zatz, M.6
Diament, A.7
-
70
-
-
0026527913
-
Dystrophin deficiency in a case of congenital myopathy
-
Prelle A, Medori R, Moggio M, Chan HW, Gallanti A, Scarlato G, Bonilla E Dystrophin deficiency in a case of congenital myopathy. J Neurol 1992, 239:76-78.
-
(1992)
J Neurol
, vol.239
, pp. 76-78
-
-
Prelle, A.1
Medori, R.2
Moggio, M.3
Chan, H.W.4
Gallanti, A.5
Scarlato, G.6
Bonilla, E.7
-
71
-
-
0026584805
-
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
-
Buxton J, Shelbourne P, Davies J, Jones C, Van Toneren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al.: Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992, 355:547-548.
-
(1992)
Nature
, vol.355
, pp. 547-548
-
-
Buxton, J.1
Shelbourne, P.2
Davies, J.3
Jones, C.4
Van Toneren, T.5
Aslanidis, C.6
De Jong, P.7
Jansen, G.8
Anvret, M.9
Riley, B.10
-
72
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
-
Brook JD, Currach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion J-P, Hudson T, et al.: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992, 68:799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
Currach, M.E.2
Harley, H.G.3
Buckler, A.J.4
Church, D.5
Aburatani, H.6
Hunter, K.7
Stanton, V.P.8
Thirion, J.-P.9
Hudson, T.10
-
73
-
-
0026598119
-
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
-
Fu Y-H, Pizzuti A, Fenwick RG, King J, Rajnarayan S, Dunne PW, Dubel J, Nasser GA, Ashizawa T, de Jong P, et al.: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992, 255:1256-1258.
-
(1992)
Science
, vol.255
, pp. 1256-1258
-
-
Fu, Y.-H.1
Pizzuti, A.2
Fenwick, R.G.3
King, J.4
Rajnarayan, S.5
Dunne, P.W.6
Dubel, J.7
Nasser, G.A.8
Ashizawa, T.9
De Jong, P.10
-
74
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3-prime untranslated region of the gene
-
Madehaven M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neiville C, Narang M, Barcelo J, O'Hoy K, et al.: Myotonic dystrophy mutation: an unstable CTG repeat in the 3-prime untranslated region of the gene. Science 1992, 255:1253-1255.
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Madehaven, M.1
Tsilfidis, C.2
Sabourin, L.3
Shutler, G.4
Amemiya, C.5
Jansen, G.6
Neiville, C.7
Narang, M.8
Barcelo, J.9
O'Hoy, K.10
-
75
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Reardon W, Fenton I, Shaw DJ, Harper PS: Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993, 52:1164-1174.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Reardon, W.6
Fenton, I.7
Shaw, D.J.8
Harper, P.S.9
-
76
-
-
0028890669
-
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent
-
Wong L-JC, Ashizawa T, Monckton DG, Caskey CT, Richards CS: Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 1995, 56:114-122.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 114-122
-
-
Wong, L.-J.C.1
Ashizawa, T.2
Monckton, D.G.3
Caskey, C.T.4
Richards, C.S.5
-
77
-
-
0029085338
-
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period
-
Martorell L, Martinez JM, Carey N, Johnson K, Baiget M: Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 1995, 32:593-596.
-
(1995)
J Med Genet
, vol.32
, pp. 593-596
-
-
Martorell, L.1
Martinez, J.M.2
Carey, N.3
Johnson, K.4
Baiget, M.5
-
78
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa T, Dubel JR, Harati Y: Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993, 43:2674-2678.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
79
-
-
0027366978
-
Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism
-
Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes J-P, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C: Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet 1993, 52:875-883.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 875-883
-
-
Lavedan, C.1
Hofmann-Radvanyi, H.2
Shelbourne, P.3
Rabes, J.-P.4
Duros, C.5
Savoy, D.6
Dehaupas, I.7
Luce, S.8
Johnson, K.9
Junien, C.10
-
80
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret M, Ahlberg G, Grandell U, Hedberg B, Johnson K, Edstrom L: Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993, 2:1397-1400.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ahlberg, G.2
Grandell, U.3
Hedberg, B.4
Johnson, K.5
Edstrom, L.6
-
81
-
-
0031022134
-
Cardiac disease in myotonic dystrophy
-
Phillips MF, Harper PS: Cardiac disease in myotonic dystrophy. Cardiovasc Res 1997, 33:13-22.
-
(1997)
Cardiovasc Res
, vol.33
, pp. 13-22
-
-
Phillips, M.F.1
Harper, P.S.2
-
82
-
-
0029094202
-
Cardiac involvement in a large kindred with myotonic dystrophy: Quantitative assessment and relation to size of CTG repeat expansion
-
Tokgozoglu LS, Ashizawa T, Pacifico A, Armstrong RM, Epstein HF, Zoghbi WA: Cardiac involvement in a large kindred with myotonic dystrophy: quantitative assessment and relation to size of CTG repeat expansion. JAMA 1995, 274:813-819.
-
(1995)
JAMA
, vol.274
, pp. 813-819
-
-
Tokgozoglu, L.S.1
Ashizawa, T.2
Pacifico, A.3
Armstrong, R.M.4
Epstein, H.F.5
Zoghbi, W.A.6
-
83
-
-
0029043330
-
Myocardial myotonia in myotonic muscular dystrophy
-
Child JS, Perloff JK: Myocardial myotonia in myotonic muscular dystrophy. Am Heart J 1995, 129:982-990.
-
(1995)
Am Heart J
, vol.129
, pp. 982-990
-
-
Child, J.S.1
Perloff, J.K.2
-
84
-
-
0028817590
-
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy
-
Melacini P, Villanova C, Menegazzo E, Novelli G, Danieli G, Rizzoli G, Fasoli G, Angelini C, Buja C1 Miorelli M, et al.: Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol 1995, 25:239-245.
-
(1995)
J Am Coll Cardiol
, vol.25
, pp. 239-245
-
-
Melacini, P.1
Villanova, C.2
Menegazzo, E.3
Novelli, G.4
Danieli, G.5
Rizzoli, G.6
Fasoli, G.7
Angelini, C.8
Buja, C.9
Miorelli, M.10
-
85
-
-
0029163447
-
Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein
-
Maeda M, Taft CS, Bush EW, Holder E, Bailey WM, Neville H, Perryman MB, Bies RD: Identification, tissue-specific expression, and subcellular localization of the 80- and 71-kDa forms of myotonic dystrophy kinase protein. J Biol Chem 1995, 270:20246-20249.
-
(1995)
J Biol Chem
, vol.270
, pp. 20246-20249
-
-
Maeda, M.1
Taft, C.S.2
Bush, E.W.3
Holder, E.4
Bailey, W.M.5
Neville, H.6
Perryman, M.B.7
Bies, R.D.8
-
86
-
-
0029057786
-
Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
-
Whiting FJ, Waring J, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda J-E, Korneluk RG: Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue. Hum Mol Genet 1995, 4:1063-1072.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1063-1072
-
-
Whiting, F.J.1
Waring, J.2
Tamai, K.3
Somerville, M.J.4
Hincke, M.5
Staines, W.A.6
Ikeda, J.-E.7
Korneluk, R.G.8
-
87
-
-
0028019032
-
Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles
-
Salvatori S, Biral D, Furlan S, Marin O: Identification and localization of the myotonic dystrophy gene product in skeletal and cardiac muscles. Biochem Biophys Res Commun 1994, 203:1365-1370.
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 1365-1370
-
-
Salvatori, S.1
Biral, D.2
Furlan, S.3
Marin, O.4
-
88
-
-
0027525217
-
Myotonic dystrophy kinase is a component of neuromuscular junctions
-
van der Ven PFM, Jansen G, van Kuppevelt THMSM, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PHK, Veerkamp JH, Epstein HF, et al.: Myotonic dystrophy kinase is a component of neuromuscular junctions. Hum Mol Genet 1993, 2:1889-1894.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1889-1894
-
-
Van Der Ven, P.F.M.1
Jansen, G.2
Van Kuppevelt, T.H.M.S.M.3
Perryman, M.B.4
Lupa, M.5
Dunne, P.W.6
Ter Laak, H.J.7
Jap, P.H.K.8
Veerkamp, J.H.9
Epstein, H.F.10
-
89
-
-
0028940741
-
Myotonic dystrophy: Evidence for a possible dominantnegative RNA mutation
-
Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, Hoffman EP: Myotonic dystrophy: evidence for a possible dominantnegative RNA mutation. Hum Mol Genet 1995, 4:599-606.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 599-606
-
-
Wang, J.1
Pegoraro, E.2
Menegazzo, E.3
Gennarelli, M.4
Hoop, R.C.5
Angelini, C.6
Hoffman, E.P.7
-
90
-
-
0028932050
-
Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements
-
Wang Y-H, Griffith J: Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics 1995, 25:570-573.
-
(1995)
Genomics
, vol.25
, pp. 570-573
-
-
Wang, Y.-H.1
Griffith, J.2
-
91
-
-
0028818586
-
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat
-
Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji T, Bailey MES, Chartier FL, et al.: A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 1995, 4:1919-1925.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1919-1925
-
-
Boucher, C.A.1
King, S.K.2
Carey, N.3
Krahe, R.4
Winchester, C.L.5
Rahman, S.6
Creavin, T.7
Meghji, T.8
Bailey, M.E.S.9
Chartier, F.L.10
-
92
-
-
0028962264
-
Gene for progressive familial heart block type 1 maps to chromosome 19q13
-
Brink PA, Ferreira A, Moolman JC, Weymar HW, van de Merwe PL, Corfield VA: Gene for progressive familial heart block type 1 maps to chromosome 19q13. Circulation 1995, 91:1633-1640.
-
(1995)
Circulation
, vol.91
, pp. 1633-1640
-
-
Brink, P.A.1
Ferreira, A.2
Moolman, J.C.3
Weymar, H.W.4
Van De Merwe, P.L.5
Corfield, V.A.6
-
93
-
-
8944235350
-
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice
-
Jansen G, Groenen PJTA, Bachner D, Jap PHK, Coerwinkel M, Oerlemans F, van den Broek W, Gohlsch B, Pette D, Plomb JJ, et al.: Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature Genet 1996, 13:316-322. Neither the overexpression of Mt-PK in transgenic mice nor the absence of Mt-PK in knockout mice is able to reproduce the myotonic dystrophy phenotype, suggesting that an interspecies difference is preventing the myotonic dystrophy phenotype from being expressed in mice or that the CTG repeat expansion is required to cause disease expression.
-
(1996)
Nature Genet
, vol.13
, pp. 316-322
-
-
Jansen, G.1
Groenen, P.J.T.A.2
Bachner, D.3
Jap, P.H.K.4
Coerwinkel, M.5
Oerlemans, F.6
Van Den Broek, W.7
Gohlsch, B.8
Pette, D.9
Plomb, J.J.10
-
94
-
-
8944259903
-
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
-
Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM, Tran K, Rayburn H, Bronson R, Cros D, et al.: Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature Genet 1996, 13:325-335. Unlike Jansen et al. (Nature Genet 1996, 13:316-322) these authors find that mice that have had their Mt-PK gene knocked out develop a myopathy. However, these mice lack other features of myotonic dystrophy, suggesting that a simple loss of function may not explain the myotonic dystrophy phenotype in humans.
-
(1996)
Nature Genet
, vol.13
, pp. 325-335
-
-
Reddy, S.1
Smith, D.B.2
Rich, M.M.3
Leferovich, J.M.4
Reilly, P.5
Davis, B.M.6
Tran, K.7
Rayburn, H.8
Bronson, R.9
Cros, D.10
-
95
-
-
0022531566
-
Emery-Dreifuss muscular dystrophy: Report of five cases in a family and review of the literature
-
Merlini L, Granata C, Dominici R, Bonfiglioli S: Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve 1986, 9:481-485.
-
(1986)
Muscle Nerve
, vol.9
, pp. 481-485
-
-
Merlini, L.1
Granata, C.2
Dominici, R.3
Bonfiglioli, S.4
-
96
-
-
0024419522
-
Emery-Dreifuss muscular syndrome
-
Emery AEH: Emery-Dreifuss muscular syndrome. J Med Genet 1989, 26:637-641.
-
(1989)
J Med Genet
, vol.26
, pp. 637-641
-
-
Emery, A.E.H.1
-
97
-
-
0023949032
-
Emery-Dreifuss muscular dystrophy: Disease spectrum and differential diagnosis
-
Voit T, Krogmann H, Lenard G: Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 1988, 19:62-71.
-
(1988)
Neuropediatrics
, vol.19
, pp. 62-71
-
-
Voit, T.1
Krogmann, H.2
Lenard, G.3
-
98
-
-
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, Toniolo D: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genet 1994, 9:323-327.
-
(1994)
Nature Genet
, vol.9
, pp. 323-327
-
-
Bione, S.1
Maestrini, E.2
Rivella, S.3
Mancini, M.4
Regis, S.5
Romeo, G.6
Toniolo, D.7
-
99
-
-
0010397284
-
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
-
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. One of two papers (see Nagano et al. [Nature Genet 1996, 12:254-259]) showing by immunocytochemistry and cell fractionation that emerin is located at the nuclear membrane in normal individuals and is absent in patients with EDMD. This localization pattern suggests that emerin's function is quite different from that of the dystrophin-glycoprotein complex or Mt-PK.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 801-808
-
-
Manilal, S.1
Nguyen, T.M.2
Sewry, C.A.3
Morris, G.E.4
-
100
-
-
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, Hayashi YK, Tsukahara T, Arahata K: Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nature Genet 1996, 12:254-259. One of two papers (see Manilal et al. [Hum Mol Genet 1996, 51:801-808]) showing by immunocytochemistry and cell fractionation that emerin is located at the nuclear membrane in normal individuals and is absent in patients with EDMD. This localization pattern suggests that emerin's function is quite different from that of the dystrophin-glycoprotein complex or Mt-PK.
-
(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
Hayashi, Y.K.7
Tsukahara, T.8
Arahata, K.9
-
101
-
-
0027276759
-
Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
-
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.
-
(1993)
Cell
, vol.73
, pp. 1267-1279
-
-
Foisner, R.1
Gerace, L.2
-
102
-
-
0028865862
-
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
-
Bione S, Small X, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST. 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, X.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.9
Warren, S.T.10
-
103
-
-
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, Politano L, Nigro 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.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2003-2004
-
-
Nigro, V.1
Bruni, P.2
Ciccodicola, A.3
Politano, L.4
Nigro, G.5
Cappa, V.6
Covone, A.E.7
Romeo, G.8
D'Urso, M.9
-
104
-
-
0028892092
-
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
-
Klauck SM, Wilgenbus P, Yates JRW, Muller CR, Poustka A: 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
Muller, C.R.4
Poustka, A.5
-
105
-
-
0024540879
-
Conversion of mdx myofibers from dystrophin negative to positive by injection of normal myoblasts
-
Partridge TA, Morgan JE, Coulton GR, Hoffman EP, Kunkel LM: Conversion of mdx myofibers from dystrophin negative to positive by injection of normal myoblasts. Nature 1989, 337:176-179.
-
(1989)
Nature
, vol.337
, pp. 176-179
-
-
Partridge, T.A.1
Morgan, J.E.2
Coulton, G.R.3
Hoffman, E.P.4
Kunkel, L.M.5
-
106
-
-
0029122523
-
Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice
-
Phelps SF, Hauser MA, Cole NM, Rafael JA, Hinkel RT, Faulkner JA, Chamberlain JS: Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Hum Mol Genet 1995, 4:1251-1258.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1251-1258
-
-
Phelps, S.F.1
Hauser, M.A.2
Cole, N.M.3
Rafael, J.A.4
Hinkel, R.T.5
Faulkner, J.A.6
Chamberlain, J.S.7
-
107
-
-
0029122522
-
Expression of human full-length and minidystrophin in transgenic mdx mice: Implications for gene therapy of Duchenne muscular dystrophy
-
Wells DJ, Wells KE, Asante EA, Turner G, Sunada Y, Campbell KP, Walsh FS, Dickson G: Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet 1995, 4:1245-1250.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1245-1250
-
-
Wells, D.J.1
Wells, K.E.2
Asante, E.A.3
Turner, G.4
Sunada, Y.5
Campbell, K.P.6
Walsh, F.S.7
Dickson, G.8
-
108
-
-
0029918603
-
Functional protection of dystrophic (mdx) mouse muscles after adenovirus-mediated transfer of a dystrophin minigene
-
Deconinck N, Ragot T, Marechal G, Perricaudet M, Gillis JM: Functional protection of dystrophic (mdx) mouse muscles after adenovirus-mediated transfer of a dystrophin minigene. Proc Natl Acad Sci U S A 1996, 93:3570-3574.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 3570-3574
-
-
Deconinck, N.1
Ragot, T.2
Marechal, G.3
Perricaudet, M.4
Gillis, J.M.5
-
109
-
-
0029906168
-
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin minigene
-
Tinsley JM, Potter AC, Phelps SR, Fisher R, Trickett JI, Davies KE: Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin minigene. Nature 1996, 384:349-353.
-
(1996)
Nature
, vol.384
, pp. 349-353
-
-
Tinsley, J.M.1
Potter, A.C.2
Phelps, S.R.3
Fisher, R.4
Trickett, J.I.5
Davies, K.E.6
-
110
-
-
0029129834
-
Myoblast transfer in the treatment of Duchenne's muscular dystrophy
-
Mendell JR, Kissel JT, Amato AA, King W, Signore L, Prior TW, Sahenk Z, Benson S, McAndrew PE, Rice R, et al.: Myoblast transfer in the treatment of Duchenne's muscular dystrophy. N Engl J Med 1995, 333:832-838.
-
(1995)
N Engl J Med
, vol.333
, pp. 832-838
-
-
Mendell, J.R.1
Kissel, J.T.2
Amato, A.A.3
King, W.4
Signore, L.5
Prior, T.W.6
Sahenk, Z.7
Benson, S.8
McAndrew, P.E.9
Rice, R.10
-
111
-
-
0030892490
-
Isolation and characterization of packaging cell lines that coexpress the adenovirus E1, DNA polymerase, and preterminal proteins: Implications for gene therapy
-
Amalfitano A, Chamberlain JS: Isolation and characterization of packaging cell lines that coexpress the adenovirus E1, DNA polymerase, and preterminal proteins: implications for gene therapy. Gene Ther 1997, 4:258-263.
-
(1997)
Gene Ther
, vol.4
, pp. 258-263
-
-
Amalfitano, A.1
Chamberlain, J.S.2
-
112
-
-
0029160868
-
Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies
-
Vainzof M, Passos-Bueno R, Man N, Zatz M: Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophies. Am J Med Genet 1995, 58:305-309.
-
(1995)
Am J Med Genet
, vol.58
, pp. 305-309
-
-
Vainzof, M.1
Passos-Bueno, R.2
Man, N.3
Zatz, M.4
|