-
1
-
-
0035212037
-
Mutation in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosilation of α-Dystroglycan
-
Brockington M, Blake, DJ, Prandini P et al. (2001) Mutation in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosilation 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
-
2
-
-
18244375299
-
Mutation in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C
-
Brockington M, Yuva Y, Prandini P et al. (2001) Mutation in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 21 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
-
3
-
-
0034214277
-
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
-
Driss A, Amouri R, Ben Hamida C et al. (2000) A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord 10:240-246
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 240-246
-
-
Driss, A.1
Amouri, R.2
Ben Hamida, C.3
-
4
-
-
0141925704
-
Glycosylation defects: A new mechanism for muscular dystrophy?
-
Grewal PK, 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, P.K.1
Hewitt, J.E.2
-
5
-
-
4344686445
-
Patient with FKRP mutation representing by exercise intolerance
-
Knirsch U, Rosenbohm A, Tumani H et al. (2003) Patient with FKRP mutation representing by exercise intolerance. Akt Neurol S1:P648
-
(2003)
Akt Neurol
, vol.S1
-
-
Knirsch, U.1
Rosenbohm, A.2
Tumani, H.3
-
6
-
-
0037380737
-
Phenotypic spectrum associated with mutations in the fukutin-related protien gene
-
Mercuri E, Brockington M, Straub V et al. (2003) Phenotypic spectrum associated with mutations in the fukutin-related protien gene. Ann Neurol 53:537-542
-
(2003)
Ann Neurol
, vol.53
, pp. 537-542
-
-
Mercuri, E.1
Brockington, M.2
Straub, V.3
-
7
-
-
0347757245
-
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: The other end of the spectrum
-
Paula F, Vieira N, Starling A 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
-
-
Paula, F.1
Vieira, N.2
Starling, A.3
-
9
-
-
0037461292
-
The phenotype of limb-girdle muscular dystrophy type 21
-
Poppe M, Cree L, Bourke J et al. (2003) The phenotype of limb-girdle muscular dystrophy type 21. Neurology 60:1246-1251
-
(2003)
Neurology
, vol.60
, pp. 1246-1251
-
-
Poppe, M.1
Cree, L.2
Bourke, J.3
-
10
-
-
0037465832
-
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
-
Topatoglu H, Brockington M, Yuva Y 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
-
-
Topatoglu, H.1
Brockington, M.2
Yuva, Y.3
-
11
-
-
0042071489
-
The 10 autosomal recessive limb-girdle muscular dystrophies
-
Zatz M, de Paula F, Starling A et al. (2003) The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 13:532-544
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 532-544
-
-
Zatz, M.1
De Paula, F.2
Starling, A.3
|