-
6
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
10
-
-
13344277364
-
Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alphal-syntrophin mediated by PDZ domains
-
(1996)
Cell
, vol.84
, pp. 757-767
-
-
Brenman, J.E.1
Chao, D.S.2
Gee, S.H.3
McGee, A.W.4
Craven, S.E.5
Santillano, D.R.6
Wu, Z.7
Huang, F.8
Xia, H.9
Peters, M.F.10
-
13
-
-
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.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 15160-15165
-
-
Song, K.S.1
Schere, P.E.2
Tang, Z.3
Okamoto, T.4
Li, S.5
Chafel, M.6
Chu, C.7
Kohtz, D.S.8
Lisanti, M.P.9
-
17
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Letrucq, F.2
Allamand, V.3
Piccolo, F.4
Jeanpierre, M.5
Anderson, R.D.6
Lim, L.E.7
Lee, J.C.8
Tome, F.M.S.9
Romero, N.B.10
-
18
-
-
0001927951
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
(1995)
Nature Genet.
, vol.5
, pp. 1963-1969
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
Leturcq, F.4
Azibi, K.5
Belford, C.6
Carrie, A.7
Recan, D.8
-
20
-
-
0028971221
-
Beta-sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
(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
Moomaw, C.9
Slaughter, C.10
-
21
-
-
0028971219
-
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
(1995)
Nature Genet.
, vol.11
, pp. 266-273
-
-
Bonnemann, 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
-
22
-
-
0027032694
-
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q
-
(1992)
Nature Genet.
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
Ben Hamida, C.4
Blel, S.5
Carter, S.C.6
Bowcock, A.M.7
Petruhkin, K.8
Gilliam, T.C.9
Roses, A.D.10
-
23
-
-
10544243791
-
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 2019-2022
-
-
Piccolo, F.1
Jeanpierre, M.2
Leturcq, F.3
Dode, C.4
Azibi, K.5
Toutain, A.6
Merlini, L.7
Jarre, L.8
Navarro, C.9
Krishnamoorthy, R.10
-
25
-
-
0029816797
-
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
-
(1996)
Nature Genet.
, vol.14
, pp. 195-198
-
-
Nigro, V.1
de Sa Moreira, 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
-
26
-
-
0028883973
-
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
-
(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
Bonnemann, C.G.8
Gussoni, E.9
Denton, P.H.10
-
27
-
-
0033526085
-
Membrane targeting and stabilization of sarcospan is mediated by the sarcoglycan subcomplex
-
(1999)
J. Cell Biol.
, vol.145
, pp. 153-165
-
-
Crosbie, R.H.1
Lebakken, C.S.2
Holt, K.H.3
Venzke, D.P.4
Straub, V.5
Lee, J.C.6
Grady, R.M.7
Chamberlain, J.S.8
Sanes, J.R.9
Campbell, K.P.10
-
31
-
-
19244372467
-
Progressive muscular dystrophy in α-sarcoglycan deficient mice
-
(1998)
J. Cell Biol.
, vol.142
, pp. 1461-1471
-
-
Duclos, F.1
Straub, V.2
Moore, S.A.3
Venzke, D.P.4
Hrstka, R.F.5
Crosbie, R.H.6
Durbeej, M.7
Lebakken, C.S.8
Ettinger, A.J.9
van der Meulen, J.10
-
32
-
-
0032829045
-
Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1589-1598
-
-
Araishi, K.1
Sasaoka, T.2
Imamura, M.3
Noguchi, S.4
Hama, H.5
Wakabayashi, E.6
Yoshida, M.7
Hori, T.8
Ozawa, E.9
-
34
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Canovas, M.3
Moreira, E.S.4
Pavanello, R.C.5
Marie, S.K.6
Anderson, L.V.7
Bonnemann, C.G.8
McNally, E.M.9
Nigro, V.10
-
35
-
-
0030951089
-
Primary adhalinopathy (alpha-sarcoglycanopathy): Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
-
(1997)
Neurology
, vol.48
, pp. 1227-1234
-
-
Eymard, B.1
Romero, N.B.2
Leturcq, F.3
Piccolo, F.4
Carrie, A.5
Jeanpierre, M.6
Collin, H.7
Deburgrave, N.8
Azibi, K.9
Chaouch, M.10
-
36
-
-
0031459124
-
New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency
-
(1997)
J. Neurol. Sci.
, vol.153
, pp. 100-105
-
-
Higuchi, I.1
Iwaki, H.2
Kawai, H.3
Endo, T.4
Kunishige, M.5
Fukunagi, H.6
Nakagawa, M.7
Arimura, K.8
Osame, M.9
-
37
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bonnemann, C.G.3
Vainzof, M.4
de Sa Moreira, E.5
Lidov, H.G.6
Othmane, K.B.7
Denton, P.H.8
Vance, J.M.9
Zatz, M.10
Kunkel, L.M.11
-
41
-
-
0030792467
-
Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: Immunohistochemical analysis and clinical aspects
-
(Berl.)
-
(1997)
Acta Neuropathol.
, vol.94
, pp. 28-35
-
-
Barresi, R.1
Confalonieri, V.2
Lanfossi, M.3
Di Blasi, C.4
Torchiana, E.5
Mantegazza, R.6
Jarre, L.7
Nardocci, N.8
Boffi, P.9
Tezzon, F.10
-
43
-
-
0033588050
-
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
-
(1999)
Cell
, vol.98
, pp. 465-474
-
-
Coral-Vazquez, R.1
Cohn, R.D.2
Moore, S.A.3
Hill, J.A.4
Weiss, R.M.5
Davisson, R.L.6
Straub, V.7
Barresi, R.8
Bansal, D.9
Hrstka, R.F.10
-
47
-
-
0033963757
-
Disruption of the beta-sarcoglycan gene reveals pathogenic complexity of limb-girdle muscular dystrophy type 2E
-
(2000)
Mol. Cell.
, vol.5
, pp. 141-151
-
-
Durbeej, M.1
Cohn, R.D.2
Hrstka, R.F.3
Moore, S.A.4
Allamand, V.5
Davidson, B.L.6
Williamson, R.A.7
Campbell, K.P.8
-
49
-
-
17344382194
-
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1033-1040
-
-
Yoshida, M.1
Hama, H.2
Ishikawa-Sakurai, M.3
Imamura, M.4
Mizuno, Y.5
Araishi, K.6
Wakabayashi-Takai, E.7
Noguchi, S.8
Sasaoka, T.9
Ozawa, E.10
-
52
-
-
18544402590
-
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
-
(1996)
FEBS Lett.
, vol.381
, pp. 15-20
-
-
Jung, D.1
Leturcq, F.2
Sunada, Y.3
Duclos, F.4
Tome, F.M.5
Moomaw, C.6
Merlini, L.7
Azibi, K.8
Chaouch, M.9
Slaughter, C.10
-
53
-
-
0029094331
-
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 1202-1207
-
-
Kawai, H.1
Akaike, M.2
Endo, T.3
Adachi, K.4
Inui, T.5
Mitsui, T.6
Kashiwagi, S.7
Fujiwara, T.8
Okuno, S.9
Shin, S.10
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