-
1
-
-
34447123225
-
Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex
-
Beedle AM, Nienaber PM, Campbell KP (2007) Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem 282:16713-16717
-
(2007)
J Biol Chem
, vol.282
, pp. 16713-16717
-
-
Beedle, A.M.1
Nienaber, P.M.2
Campbell, K.P.3
-
2
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary α2-laminin deficiency and abnormal glycosylation of α-dystroglycan
-
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, et al. (2001a) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary α2-laminin deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Genet 69:1198-1209
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Ponting, C.P.7
-
3
-
-
0036172254
-
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limp girdle muscular dystrophy 21
-
Brockington M, Blake DJ, Torelli S, Brown CS, Muntoni F (2002) The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limp girdle muscular dystrophy 21. Neuromuscul Disord 12:233-234
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 233-234
-
-
Brockington, M.1
Blake, D.J.2
Torelli, S.3
Brown, C.S.4
Muntoni, F.5
-
4
-
-
18244375299
-
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, et al. (2001b) Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10:2851-2859
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Herrmann, R.7
-
5
-
-
1542379704
-
Abnormalities in α-dystroglycan expression in MDC1 and LGMD2I muscular dystrophies
-
Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, et al. (2004) Abnormalities in α-dystroglycan expression in MDC1 and LGMD2I muscular dystrophies. Am J Pathol 164:727-737
-
(2004)
Am J Pathol
, vol.164
, pp. 727-737
-
-
Brown, S.C.1
Torelli, S.2
Brockington, M.3
Yuva, Y.4
Jimenez, C.5
Feng, L.6
Anderson, L.7
-
6
-
-
0028835527
-
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC Consortium on Limb-Girdle Dystrophies
-
Bushby KM (1995) Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies. Neuromuscul Disord 5:71-74
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 71-74
-
-
Bushby, K.M.1
-
7
-
-
0037211475
-
The 105th ENMC sponsored workshop: Pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002
-
Bushby KM, Beckmann JS (2003) The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12-14, 2002. Neuromuscul Disord 13:80-90.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 80-90
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
8
-
-
13844267667
-
Dystroglycan: Important player in skeletal muscle and beyond
-
Cohn RD (2005) Dystroglycan: important player in skeletal muscle and beyond. Neuromuscul Disord 15:207-217
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 207-217
-
-
Cohn, R.D.1
-
9
-
-
0347757245
-
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: The other end of the spectrum
-
de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, Pavanello RC, Vainzof M, et al. (2003) Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet 11:923-930
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 923-930
-
-
de Paula, F.1
Vieira, N.2
Starling, A.3
Yamamoto, L.U.4
Lima, B.5
Pavanello, R.C.6
Vainzof, M.7
-
11
-
-
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
-
12
-
-
0141925704
-
Glycosylation defects: A new mechanism for muscular dystrophy?
-
Grewal KP, Hewitt JE (2003) Glycosylation defects: a new mechanism for muscular dystrophy? Hum Mol Genet 12:259-264
-
(2003)
Hum Mol Genet
, vol.12
, pp. 259-264
-
-
Grewal, K.P.1
Hewitt, J.E.2
-
14
-
-
0037301070
-
Glycosylation defects in inherited muscle disease
-
Hewitt JE, Grewal PK (2003) Glycosylation defects in inherited muscle disease. Cell Mol Life Sci 60:251-258
-
(2003)
Cell Mol Life Sci
, vol.60
, pp. 251-258
-
-
Hewitt, J.E.1
Grewal, P.K.2
-
15
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP (1992) Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355:696-702
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughter, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
16
-
-
34047154010
-
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex
-
MacLeod H, Pytel P, Wollmann R, Chelmicka-Schorr E, Silver K, Anderson RB, Waggoner D, et al. (2007) A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord 17:285-289
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 285-289
-
-
MacLeod, H.1
Pytel, P.2
Wollmann, R.3
Chelmicka-Schorr, E.4
Silver, K.5
Anderson, R.B.6
Waggoner, D.7
-
17
-
-
0042196022
-
Dystroglycan glycosylation and its role in matrix binding in skeletal muscle
-
Martin PT (2003) Dystroglycan glycosylation and its role in matrix binding in skeletal muscle. Glycobiology 13:55R-66R
-
(2003)
Glycobiology
, vol.13
-
-
Martin, P.T.1
-
18
-
-
20144388234
-
Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan
-
Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Nogushi S, Nonaka I, et al. (2005) Congenital muscular dystrophy with glycosylation defects of α-dystroglycan in Japan. Neuromuscul Disord 15:342-348
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 342-348
-
-
Matsumoto, H.1
Hayashi, Y.K.2
Kim, D.S.3
Ogawa, M.4
Murakami, T.5
Nogushi, S.6
Nonaka, I.7
-
19
-
-
0037380737
-
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
-
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, Herrrrmann R, Brown SC, et al. (2003) Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 53:537-542
-
(2003)
Ann Neurol
, vol.53
, pp. 537-542
-
-
Mercuri, E.1
Brockington, M.2
Straub, V.3
Quijano-Roy, S.4
Yuva, Y.5
Herrrrmann, R.6
Brown, S.C.7
-
20
-
-
32944460140
-
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
-
Mercuri E, Topaloglu H, Brockington M, Berardinelli A, Pichiecchio A, Santorelli F, Rutherford M, et al. (2006) Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol 673:251-257
-
(2006)
Arch Neurol
, vol.673
, pp. 251-257
-
-
Mercuri, E.1
Topaloglu, H.2
Brockington, M.3
Berardinelli, A.4
Pichiecchio, A.5
Santorelli, F.6
Rutherford, M.7
-
21
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, et al. (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417-422
-
(2002)
Nature
, vol.418
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
Saito, F.4
Cohn, R.D.5
Satz, J.S.6
Dollar, J.7
-
22
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 2I
-
Poppe M, Cree L, Bourke J, Eagle M, Anderson LVB, Birchall D, Brockington M, et al. (2003) The phenotype of limb-girdle muscular dystrophy type 2I. Neurology 60:1246-1251
-
(2003)
Neurology
, vol.60
, pp. 1246-1251
-
-
Poppe, M.1
Cree, L.2
Bourke, J.3
Eagle, M.4
Anderson, L.V.B.5
Birchall, D.6
Brockington, M.7
-
23
-
-
33644908510
-
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
-
Quijano-Roy S, Carrera IM, Makri S, Mayer M, Maugenre S, Richard P, Berard C, et al. (2006) Brain MRI abnormalities in muscular dystrophy due to FKRP mutations. Brain Dev 28:232-242
-
(2006)
Brain Dev
, vol.28
, pp. 232-242
-
-
Quijano-Roy, S.1
Carrera, I.M.2
Makri, S.3
Mayer, M.4
Maugenre, S.5
Richard, P.6
Berard, C.7
-
24
-
-
3543118991
-
The role of defective glycosylation in congenital muscular dystrophy
-
Schachter H, Vajsar J, Zhang W (2004) The role of defective glycosylation in congenital muscular dystrophy. Glycoconj J 20:291-300
-
(2004)
Glycoconj J
, vol.20
, pp. 291-300
-
-
Schachter, H.1
Vajsar, J.2
Zhang, W.3
-
25
-
-
0030918601
-
Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain
-
Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, et al. (1997) Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain. Neuromuscul Disord 7:169-175
-
(1997)
Neuromuscul Disord
, vol.7
, pp. 169-175
-
-
Sewry, C.A.1
Naom, I.2
D'Alessandro, M.3
Sorokin, L.4
Bruno, S.5
Wilson, L.A.6
Dubowitz, V.7
-
26
-
-
0037465832
-
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
-
Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, et al. (2003) FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60:988-992
-
(2003)
Neurology
, vol.60
, pp. 988-992
-
-
Topaloglu, H.1
Brockington, M.2
Yuva, Y.3
Talim, B.4
Haliloglu, G.5
Blake, D.6
Torelli, S.7
-
27
-
-
0026697934
-
Additional dystrophin fragment in Becker muscular dystrphy patients: Correlation with the pattern of DNA deletions
-
Vainzof M, Passos-Bueno MR, Rapaport D, Pavanello RCM, Bulman DE, Zatz M (1992) Additional dystrophin fragment in Becker muscular dystrphy patients: correlation with the pattern of DNA deletions. Am J Med Genet 44:382-384
-
(1992)
Am J Med Genet
, vol.44
, pp. 382-384
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Rapaport, D.3
Pavanello, R.C.M.4
Bulman, D.E.5
Zatz, M.6
-
28
-
-
0037208979
-
Immunological methods for the analysis of protein expression in neuromuscular diseases
-
Vainzof M, Passos-Bueno MR, Zatz M (2003) Immunological methods for the analysis of protein expression in neuromuscular diseases. Methods Mol Biol 217:355-378
-
(2003)
Methods Mol Biol
, vol.217
, pp. 355-378
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Zatz, M.3
-
29
-
-
54349126007
-
The contribution of protein analysis in the diagnosis of neuromuscular diseases
-
Burgess VN, ed, New York, Nova Biomedical Books
-
Vainzof M, Yamamoto LU, Gouveia TLF, Zatz M (2005) The contribution of protein analysis in the diagnosis of neuromuscular diseases. In Burgess VN, ed. Trends in Muscular Dystrophy Research. New York, Nova Biomedical Books, 245-262
-
(2005)
Trends in Muscular Dystrophy Research
, pp. 245-262
-
-
Vainzof, M.1
Yamamoto, L.U.2
Gouveia, T.L.F.3
Zatz, M.4
-
30
-
-
0037461314
-
The limb-girdle muscular dystrophies. Genetic and phenotypic definition of a disputed entity
-
Wicklund M, Hilton-Jones D (2003) The limb-girdle muscular dystrophies. Genetic and phenotypic definition of a disputed entity. Neurology 60:1230-1231
-
(2003)
Neurology
, vol.60
, pp. 1230-1231
-
-
Wicklund, M.1
Hilton-Jones, D.2
|