-
1
-
-
0033814140
-
Molecular basis of muscular dystrophies
-
Cohn RD, Campbell KP: Molecular basis of muscular dystrophies. Muscle Nerve 2000; 23: 1456-1471.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1456-1471
-
-
Cohn, R.D.1
Campbell, K.P.2
-
2
-
-
0033885496
-
Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
-
Hack AA, Lam MY, Cordier L et al: Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000; 113: 2535-2544.
-
(2000)
J Cell Sci
, vol.113
, pp. 2535-2544
-
-
Hack, A.A.1
Lam, M.Y.2
Cordier, L.3
-
3
-
-
33846781220
-
Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy
-
Heydemann A, McNally EM: Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy. Trends Cardiovasc Med 2007; 17: 55-59.
-
(2007)
Trends Cardiovasc Med
, vol.17
, pp. 55-59
-
-
Heydemann, A.1
McNally, E.M.2
-
4
-
-
27144471385
-
Molecular and cell biology of the sarcoglycan complex
-
Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M: Molecular and cell biology of the sarcoglycan complex. Muscle Nerve 2005; 32: 563-576.
-
(2005)
Muscle Nerve
, vol.32
, pp. 563-576
-
-
Ozawa, E.1
Mizuno, Y.2
Hagiwara, Y.3
Sasaoka, T.4
Yoshida, M.5
-
5
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
Nigro V, de Sa Moreira E, Piluso G et al: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996; 14: 195-198.
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
de Sa Moreira, E.2
Piluso, G.3
-
6
-
-
0028883973
-
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNally EM, Ben Othmane K et al: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995; 270: 819-822.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNally, E.M.2
Ben Othmane, K.3
-
7
-
-
0028971219
-
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bonnemann CG, Modi R, Noguchi S et al: Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995; 11: 266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bonnemann, C.G.1
Modi, R.2
Noguchi, S.3
-
9
-
-
0033793971
-
Limb-girdle muscular dystrophy: One gene with different phenotypes, one phenotype with different genes
-
Zatz M, Vainzof M, Passos-Oueno MR: Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes. Curr Opin Neurol 2000; 13: 511-517.
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 511-517
-
-
Zatz, M.1
Vainzof, M.2
Passos-Oueno, M.R.3
-
10
-
-
0032882445
-
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
-
Bushby KM: The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999; 8: 1875-1882.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1875-1882
-
-
Bushby, K.M.1
-
11
-
-
0035097338
-
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies
-
Politano L, Nigro V, Passamano L et al: Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord 2001; 11: 178-185.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 178-185
-
-
Politano, L.1
Nigro, V.2
Passamano, L.3
-
12
-
-
41849106833
-
No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations
-
Hjermind LE, Vissing J, Asmus F et al: No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. Eur J Neurol 2008; 15: 525-529.
-
(2008)
Eur J Neurol
, vol.15
, pp. 525-529
-
-
Hjermind, L.E.1
Vissing, J.2
Asmus, F.3
-
13
-
-
0033818186
-
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
-
Tsubata S, Bowles KR, Vatta M et al: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000; 106: 655-662.
-
(2000)
J Clin Invest
, vol.106
, pp. 655-662
-
-
Tsubata, S.1
Bowles, K.R.2
Vatta, M.3
-
14
-
-
0029864693
-
Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies
-
Richardson P, McKenna W, Bristow M et al: Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93: 841-842.
-
(1996)
Circulation
, vol.93
, pp. 841-842
-
-
Richardson, P.1
McKenna, W.2
Bristow, M.3
-
15
-
-
0034643399
-
Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy
-
Felker GM, Thompson RE, Hare JM et al: Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy. N Engl J Med 2000; 342: 1077-1084.
-
(2000)
N Engl J Med
, vol.342
, pp. 1077-1084
-
-
Felker, G.M.1
Thompson, R.E.2
Hare, J.M.3
-
16
-
-
0031951537
-
Frequency and phenotypes of familial dilated cardiomyopathy
-
Grunig E, Tasman JA, Kucherer H, Franz W, Kubler W, Katus HA: Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998; 31: 186-194.
-
(1998)
J Am Coll Cardiol
, vol.31
, pp. 186-194
-
-
Grunig, E.1
Tasman, J.A.2
Kucherer, H.3
Franz, W.4
Kubler, W.5
Katus, H.A.6
-
17
-
-
0033165780
-
Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group
-
Mestroni L, Rocco C, Gregori D et al: Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999; 34: 181-190.
-
(1999)
J Am Coll Cardiol
, vol.34
, pp. 181-190
-
-
Mestroni, L.1
Rocco, C.2
Gregori, D.3
-
18
-
-
0026319459
-
The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy
-
Michels VV, Moll PP, Miller FA et al: The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med 1992; 326: 77-82.
-
(1992)
N Engl J Med
, vol.326
, pp. 77-82
-
-
Michels, V.V.1
Moll, P.P.2
Miller, F.A.3
-
19
-
-
0035841636
-
Cardiomyopathies: From genetics to the prospect of treatment
-
Franz WM, MuFler OJ, Katus HA: Cardiomyopathies: from genetics to the prospect of treatment. Lancet 2001; 358: 1627-1637.
-
(2001)
Lancet
, vol.358
, pp. 1627-1637
-
-
Franz, W.M.1
MuFler, O.J.2
Katus, H.A.3
-
20
-
-
17444398176
-
Dilated cardiomyopathy: More genes means more phenotypes
-
Osterziel KJ, PerrMt A: Dilated cardiomyopathy: more genes means more phenotypes. Eur Heart J 2005; 26: 751-754.
-
(2005)
Eur Heart J
, vol.26
, pp. 751-754
-
-
Osterziel, K.J.1
PerrMt, A.2
-
21
-
-
0346725874
-
A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy
-
Karkkainen S, Miettinen R, Tuomainen P et al: A novel mutation, Arg71Thr, in the delta-sarcoglycan gene is associated with dilated cardiomyopathy. J Mol Med 2003; 81: 795-800.
-
(2003)
J Mol Med
, vol.81
, pp. 795-800
-
-
Karkkainen, S.1
Miettinen, R.2
Tuomainen, P.3
-
22
-
-
0041321260
-
Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy
-
Sylvius N, Duboscq-Bidot L, Bouchier C et al: Mutational analysis of the beta- and delta-sarcoglycan genes in a large number of patients with familial and sporadic dilated cardiomyopathy. Am J Med Genet A 2003; 120 (Part A): 8-12.
-
(2003)
Am J Med Genet A
, vol.120
, Issue.PART A
, pp. 8-12
-
-
Sylvius, N.1
Duboscq-Bidot, L.2
Bouchier, C.3
-
23
-
-
8244259185
-
Identification of the Syrian hamster cardiomyopathy gene
-
Nigro V, Okazaki Y, Belsito A et al: Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997; 6: 601-607.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 601-607
-
-
Nigro, V.1
Okazaki, Y.2
Belsito, A.3
-
24
-
-
0033588050
-
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
-
Coral-Vazquez R, Cohn RD, Moore SA et al: Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999; 98: 465-474.
-
(1999)
Cell
, vol.98
, pp. 465-474
-
-
Coral-Vazquez, R.1
Cohn, R.D.2
Moore, S.A.3
-
25
-
-
0343570016
-
A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F
-
Dincer P, Bonnemann CG, Erdir Aker O et al: A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord 2000; 10: 247-250.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 247-250
-
-
Dincer, P.1
Bonnemann, C.G.2
Erdir Aker, O.3
-
26
-
-
33947423351
-
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein
-
Gouveia TL, Kossugue PM, Paim JF et al: A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of δ-SG protein. J Mol Med 2007; 85: 415-420.
-
(2007)
J Mol Med
, vol.85
, pp. 415-420
-
-
Gouveia, T.L.1
Kossugue, P.M.2
Paim, J.F.3
-
27
-
-
33744934776
-
Zeta-sarcoglycan is a functional homologue of gammasarcoglycan in the formation of the sarcoglycan complex
-
Shiga K, Yoshioka H, Masumiya T, Kimura I, Takeda S, Imamura M: Zeta-sarcoglycan is a functional homologue of gammasarcoglycan in the formation of the sarcoglycan complex. Exp Cell Res 2006; 312 2083-2092.
-
(2006)
Exp Cell Res
, vol.312
, pp. 2083-2092
-
-
Shiga, K.1
Yoshioka, H.2
Masumiya, T.3
Kimura, I.4
Takeda, S.5
Imamura, M.6
-
28
-
-
33847328798
-
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes
-
Heydemann A, Demonbreun A, Hadhazy M, Earley JU, McNally EM: Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes. Hum Mol Genet 2007; 16 355-363.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 355-363
-
-
Heydemann, A.1
Demonbreun, A.2
Hadhazy, M.3
Earley, J.U.4
McNally, E.M.5
-
29
-
-
0035877822
-
Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly
-
Zhu X, Hadhazy M, Groh ME, Wheeler MT, Wollmann R, McNally EM: Overexpression of gamma-sarcoglycan induces severe muscular dystrophy. Implications for the regulation of Sarcoglycan assembly. J Biol Chem 2001; 276: 21785-21790.
-
(2001)
J Biol Chem
, vol.276
, pp. 21785-21790
-
-
Zhu, X.1
Hadhazy, M.2
Groh, M.E.3
Wheeler, M.T.4
Wollmann, R.5
McNally, E.M.6
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