-
1
-
-
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, Ozawa E, Kunkel LM (1995) β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genet 11: 266-273
-
(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
Ozawa, E.11
Kunkel, L.M.12
-
2
-
-
0029875997
-
Dystrophin-associated proteins and the muscular dystrophies: A glossary
-
Brown RH Jr (1996) Dystrophin-associated proteins and the muscular dystrophies: a glossary. Brain Pathol 6: 19-24
-
(1996)
Brain Pathol
, vol.6
, pp. 19-24
-
-
Brown Jr., R.H.1
-
3
-
-
0028914964
-
Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
-
Campbell KP (1995) Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage. Cell 80: 675-679
-
(1995)
Cell
, vol.80
, pp. 675-679
-
-
Campbell, K.P.1
-
4
-
-
0020420397
-
Functional evaluation of Duchenne muscular dystrophy: Proposal for a protocol
-
Cornelio F, Dworzak F, Morandi L, Fedrizzi E, Balestrini MR, Gondoni L (1982) Functional evaluation of Duchenne muscular dystrophy: proposal for a protocol. Ital J Neurol 3: 323-330
-
(1982)
Ital J Neurol
, vol.3
, pp. 323-330
-
-
Cornelio, F.1
Dworzak, F.2
Morandi, L.3
Fedrizzi, E.4
Balestrini, M.R.5
Gondoni, L.6
-
5
-
-
1842316979
-
Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic DMD/BMD carriers
-
(199) in press
-
Di Blasi C, Morandi L, Barresi R, Blasevich F, Cornelio F, Mora M (199) Dystrophin-associated protein abnormalities in dystrophin-deficient muscle fibers from symptomatic and asymptomatic DMD/BMD carriers. Acta Neuropathol (in press)
-
Acta Neuropathol
-
-
Di Blasi, C.1
Morandi, L.2
Barresi, R.3
Blasevich, F.4
Cornelio, F.5
Mora, M.6
-
6
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP (1993) A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 122: 809-823
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
7
-
-
18544402590
-
Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
-
Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FMS, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan J-C, Campbell KP (1996) Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 381: 15-20
-
(1996)
FEBS Lett
, vol.381
, pp. 15-20
-
-
Jung, D.1
Leturcq, F.2
Sunada, Y.3
Duclos, F.4
Tomé, F.M.S.5
Moomaw, C.6
Merlini, L.7
Azibi, K.8
Chaouch, M.9
Slaughter, C.10
Fardeau, M.11
Kaplan, J.-C.12
Campbell, K.P.13
-
8
-
-
0028971221
-
β-Sarcoglycan: Characterization and role in limb-girdle muscular dystrophy linked to 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, Tomé FMS, Fardeau M, Jackson CE, Beckmann JS, Campbell KP (1995) β-Sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nature Genet 11: 257-265
-
(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
Tomé, F.M.S.11
Fardeau, M.12
Jackson, C.E.13
Beckmann, J.S.14
Campbell, K.P.15
-
9
-
-
0026757138
-
Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tomé FMS, Collin H, Azibi K, Chaouch M, Kaplan J-C, Fardeau M, Campbell KP (1992) Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 359: 320-322
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Collin, H.3
Azibi, K.4
Chaouch, M.5
Kaplan, J.-C.6
Fardeau, M.7
Campbell, K.P.8
-
10
-
-
0027932422
-
Selective defect of the sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy
-
Mizuno Y, Noguchi S, Yamamoto H, Yoshida M, Suzuki A, Hagiwara Y, Hayashi YK, Arahata K, Nonaka I, Hirai S, Ozawa E (1994) Selective defect of the sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy. Biochem Biophys Res Commun 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
Ozawa, E.11
-
11
-
-
0029160144
-
Dystrophin characterization in BMD patients: Correlation of abnormal protein with clinical phenotype
-
Morandi L, Mora M, Confalonieri V, Barresi R, Di Blasi C, Brugnoni R, Bernasconi P, Mantegazza R, Dworzak F, Antozzi C, Balestrini MR, Jarre L, Pini A, Merlini L, Piccolo G, Mazzanti A, Daniel S, Blasevich F, Cornelio F (1995) Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. J Neurol Sci 132: 146-155
-
(1995)
J Neurol Sci
, vol.132
, pp. 146-155
-
-
Morandi, L.1
Mora, M.2
Confalonieri, V.3
Barresi, R.4
Di Blasi, C.5
Brugnoni, R.6
Bernasconi, P.7
Mantegazza, R.8
Dworzak, F.9
Antozzi, C.10
Balestrini, M.R.11
Jarre, L.12
Pini, A.13
Merlini, L.14
Piccolo, G.15
Mazzanti, A.16
Daniel, S.17
Blasevich, F.18
Cornelio, F.19
-
12
-
-
9044223654
-
Clinical heterogeneity of adhalin deficiency
-
Morandi L, Barresi R, Di Blasi C, Jung D, Sunada Y, Confalonieri V, Dworzak F, Mantegazza R, Antozzi C, Jarre L, Pini A, Gobbi G, Bianchi C, Cornelio F, Campbell KP, Mora M (1996) Clinical heterogeneity of adhalin deficiency. Ann Neurol 39: 196-202
-
(1996)
Ann Neurol
, vol.39
, pp. 196-202
-
-
Morandi, L.1
Barresi, R.2
Di Blasi, C.3
Jung, D.4
Sunada, Y.5
Confalonieri, V.6
Dworzak, F.7
Mantegazza, R.8
Antozzi, C.9
Jarre, L.10
Pini, A.11
Gobbi, G.12
Bianchi, C.13
Cornelio, F.14
Campbell, K.P.15
Mora, M.16
-
13
-
-
10144247267
-
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
-
Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, Molinari AM, Nigro G, Puca GA (1996) Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 5: 1179-1186
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1179-1186
-
-
Nigro, V.1
Piluso, G.2
Belsito, A.3
Politano, L.4
Puca, A.A.5
Papparella, S.6
Rossi, E.7
Viglietto, G.8
Esposito, M.G.9
Abbondanza, C.10
Medici, N.11
Molinari, A.M.12
Nigro, G.13
Puca, G.A.14
-
14
-
-
0029816797
-
Autosomal recessive limb girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, Sà Moreira E de, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M (1996) Autosomal recessive limb girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene. Nature Genet 14: 195-198
-
(1996)
Nature Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
De Sà 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
-
15
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, MacNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönneman CG, Gussoni E, Demon P, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance J, Kunkel LM, Ozawa E (1995) Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 270: 819-822
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
MacNally, E.M.2
Ben Othmane, K.3
Hagiwara, Y.4
Mizuno, Y.5
Yoshida, M.6
Yamamoto, H.7
Bönneman, C.G.8
Gussoni, E.9
Demon, P.10
Kyriakides, T.11
Middleton, L.12
Hentati, F.13
Ben Hamida, M.14
Nonaka, I.15
Vance, J.16
Kunkel, L.M.17
Ozawa, E.18
-
16
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable seventy
-
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrié A, Récan D, Chaouch M, Reghis A, El Kerch F, Sefiani A, Voit T, Merlini L, Collin H, Eymard B, Beckmann JS, Romero NB, Tomé FMS, Fardeau M, Campbell KP, Kaplan J-C (1995) Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable seventy. Nature Genet 10: 243-245
-
(1995)
Nature Genet
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
Leturcq, F.4
Azibi, K.5
Beldjord, C.6
Carrié, A.7
Récan, D.8
Chaouch, M.9
Reghis, A.10
El Kerch, F.11
Sefiani, A.12
Voit, T.13
Merlini, L.14
Collin, H.15
Eymard, B.16
Beckmann, J.S.17
Romero, N.B.18
Tomé, F.M.S.19
Fardeau, M.20
Campbell, K.P.21
Kaplan, J.-C.22
more..
-
17
-
-
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, Fardeau M, Beckmann JS, Kaplan J-C, Campbell KP (1994) Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 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
Fardeau, M.11
Beckmann, J.S.12
Kaplan, J.-C.13
Campbell, K.P.14
-
18
-
-
0028845066
-
Dystrophin-glycoprotein complex: Molecular organization and critical roles in skeletal musce
-
Sunada Y, Campbell KP (1995) Dystrophin-glycoprotein complex: molecular organization and critical roles in skeletal musce. Curr Opin Neurol 8: 379-384
-
(1995)
Curr Opin Neurol
, vol.8
, pp. 379-384
-
-
Sunada, Y.1
Campbell, K.P.2
-
20
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E (1990) Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 108: 748-752
-
(1990)
J Biochem
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
21
-
-
0028302369
-
Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside
-
Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E (1994) Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl β-D-glucoside. Eur J Biochem 222: 1055-1061
-
(1994)
Eur J Biochem
, vol.222
, pp. 1055-1061
-
-
Yoshida, M.1
Suzuki, A.2
Yamamoto, H.3
Noguchi, S.4
Mizuno, Y.5
Ozawa, E.6
|