-
1
-
-
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, et al. 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. 2001;10:2851-2859.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
-
2
-
-
0037115482
-
Functional requirements for fukutin-related protein in the Golgi apparatus
-
Esapa CT, Benson MA, Schroder JE, et al. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002;11:3319-3331.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3319-3331
-
-
Esapa, C.T.1
Benson, B.2
Schroder, J.E.3
-
3
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 2I
-
Poppe M, Cree L, Bourke J, et al. The phenotype of limb-girdle muscular dystrophy type 2I. Neurology. 2003;60:1246-1251.
-
(2003)
Neurology
, vol.60
, pp. 1246-1251
-
-
Poppe, M.1
Cree, L.2
Bourke, J.3
-
4
-
-
0037380737
-
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
-
Mercuri E, Brockington M, Straub V, et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol. 2003;53:537-542.
-
(2003)
Ann Neurol
, vol.53
, pp. 537-542
-
-
Mercuri, E.1
Brockington, M.2
Straub, V.3
-
5
-
-
0842302479
-
Limb-girdle muscular dystrophy type 2I: Phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
-
Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS. Limb-girdle muscular dystrophy type 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet. 2004;12:38-43.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 38-43
-
-
Harel, T.1
Goldberg, Y.2
Shalev, S.A.3
Chervinski, I.4
Ofir, R.5
Birk, O.S.6
-
6
-
-
0347757245
-
Asymptomatic carrier for homozygous novel mutations in the FKRP gene: The other end of the spectrum
-
De Paula F, Vieira N, Starling A, et al. Asymptomatic carrier for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet. 2003;11:923-930.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 923-930
-
-
De Paula, F.1
Vieira, N.2
Starling, A.3
-
7
-
-
2342590096
-
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
-
Walter MC, Petersen JA, Stucka R, et al. FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. J Med Genet. 2004;41:e50.
-
(2004)
J Med Genet
, vol.41
-
-
Walter, M.C.1
Petersen, J.A.2
Stucka, R.3
-
8
-
-
0037461326
-
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
-
Driss A, Noguchi S, Amouri R, et al. Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I. Neurology. 2003;60:1341-1344.
-
(2003)
Neurology
, vol.60
, pp. 1341-1344
-
-
Driss, A.1
Noguchi, S.2
Amouri, R.3
-
9
-
-
19944426640
-
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations
-
Frosk P, Greenberg CR, Tennese AA, et al. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat. 2005;25:38-44.
-
(2005)
Hum Mutat
, vol.25
, pp. 38-44
-
-
Frosk, P.1
Greenberg, C.R.2
Tennese, A.A.3
-
10
-
-
9144248503
-
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
-
Poppe M, Bourke J, Eagle M, et al. Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol. 2004;56:738-741.
-
(2004)
Ann Neurol
, vol.56
, pp. 738-741
-
-
Poppe, M.1
Bourke, J.2
Eagle, M.3
-
11
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan
-
Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan. Am J Hum Genet. 2001;69:1198-1209.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
-
12
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell. 1991;66:1121-1131.
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
13
-
-
4544255385
-
Artificial sweeteners: Enhancing glycosylation to treat muscular dystrophies
-
Rando TA. Artificial sweeteners: enhancing glycosylation to treat muscular dystrophies. N Engl J Med. 2004;351:1254-1256.
-
(2004)
N Engl J Med
, vol.351
, pp. 1254-1256
-
-
Rando, T.A.1
-
14
-
-
0037178732
-
Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice
-
Costell M, Carmona R, Gustafsson E, Gonzales-Iriarte M, Fassler R, Munoz-Chapuli R. Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. Circ Res. 2002;91:158-164.
-
(2002)
Circ Res
, vol.91
, pp. 158-164
-
-
Costell, M.1
Carmona, R.2
Gustafsson, E.3
Gonzales-Iriarte, M.4
Fassler, R.5
Munoz-Chapuli, R.6
-
15
-
-
0035071517
-
Distinct roles for dystroglycan, β1 integrin and perlecan in cell surface laminin organization
-
Henry MD, Satz JS, Brakebush C, et al. Distinct roles for dystroglycan, β1 integrin and perlecan in cell surface laminin organization. J Cell Sci. 2001;114:1137-1144.
-
(2001)
J Cell Sci
, vol.114
, pp. 1137-1144
-
-
Henry, M.D.1
Satz, J.S.2
Brakebush, C.3
-
16
-
-
0842347675
-
EMG and nerve conduction studies in children with congenital muscular dystrophy
-
Quijano-Roy S, Renault F, Romero N, Guicheney P, Fardeau M, Estournet B. EMG and nerve conduction studies in children with congenital muscular dystrophy. Muscle Nerve. 2004;29:292-299.
-
(2004)
Muscle Nerve
, vol.29
, pp. 292-299
-
-
Quijano-Roy, S.1
Renault, F.2
Romero, N.3
Guicheney, P.4
Fardeau, M.5
Estournet, B.6
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