-
1
-
-
0035838362
-
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
-
Y.K. Hayashi, M. Ogawa, and K. Tagawa Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy Neurology 57 2001 115 121
-
(2001)
Neurology
, vol.57
, pp. 115-121
-
-
Hayashi, Y.K.1
Ogawa, M.2
Tagawa, K.3
-
2
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
K. Kobayashi, Y. Nakahori, and M. Miyake An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy Nature 394 1998 388 392
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
-
3
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
A. Yoshida, K. Kobayashi, and H. Manya Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Dev Cell 1 2001 717 724
-
(2001)
Dev Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
-
4
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
D. Beltran-Valero de Bernabe, S. Currier, and A. Steinbrecher Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome Am J Hum Genet 71 2002 1033 1043
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1033-1043
-
-
Beltran-Valero De Bernabe, D.1
Currier, S.2
Steinbrecher, A.3
-
5
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
-
M. Brockington, D.J. Blake, and P. Prandini Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan Am J Hum Genet 69 2001 1198 1209
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
-
6
-
-
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
-
M. Brockington, Y. Yuva, and P. Prandini 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 2001 2851 2859
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2851-2859
-
-
Brockington, M.1
Yuva, Y.2
Prandini, P.3
-
7
-
-
0037461326
-
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
-
A. Driss, S. Noguchi, and R. Amouri Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I Neurology 60 2003 1341 1344
-
(2003)
Neurology
, vol.60
, pp. 1341-1344
-
-
Driss, A.1
Noguchi, S.2
Amouri, R.3
-
8
-
-
10744226857
-
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
-
C. Longman, M. Brockington, and S. Torelli Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan Hum Mol Genet 12 2003 2853 2861
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2853-2861
-
-
Longman, C.1
Brockington, M.2
Torelli, S.3
-
9
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
D.E. Michele, R. Barresi, and M. Kanagawa Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies Nature 418 2002 417 422
-
(2002)
Nature
, vol.418
, pp. 417-422
-
-
Michele, D.E.1
Barresi, R.2
Kanagawa, M.3
-
10
-
-
0037388120
-
Protein glycosylation in disease: New insights into the congenital muscular dystrophies
-
E. Martin-Rendon, and D.J. Blake Protein glycosylation in disease: new insights into the congenital muscular dystrophies Trends Pharmacol Sci 24 2003 178 183
-
(2003)
Trends Pharmacol Sci
, vol.24
, pp. 178-183
-
-
Martin-Rendon, E.1
Blake, D.J.2
-
11
-
-
0003074578
-
Fukuyama type congenital progressive muscular dystrophy
-
Y. Fukuyama M. Osawa K. Saito Amsterdam Elsevier
-
M. Osawa, S. Sumida, and N. Suzuki Fukuyama type congenital progressive muscular dystrophy Y. Fukuyama M. Osawa K. Saito Congenital muscular dystrophies 1997 Amsterdam Elsevier 31 68
-
(1997)
Congenital Muscular Dystrophies
, pp. 31-68
-
-
Osawa, M.1
Sumida, S.2
Suzuki, N.3
-
12
-
-
0037340155
-
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
-
K. Taniguchi, K. Kobayashi, and K. Saito Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease Hum Mol Genet 12 2003 527 534
-
(2003)
Hum Mol Genet
, vol.12
, pp. 527-534
-
-
Taniguchi, K.1
Kobayashi, K.2
Saito, K.3
-
13
-
-
12144286104
-
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
-
D.S. Kim, Y.K. Hayashi, and H. Matsumoto POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG Neurology 62 2004 1009 1011
-
(2004)
Neurology
, vol.62
, pp. 1009-1011
-
-
Kim, D.S.1
Hayashi, Y.K.2
Matsumoto, H.3
-
14
-
-
0032723417
-
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
-
E. Kondo-Iida, K. Kobayashi, and M. Watanabe Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD) Hum Mol Genet 8 1999 2303 2309
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2303-2309
-
-
Kondo-Iida, E.1
Kobayashi, K.2
Watanabe, M.3
-
15
-
-
1542379704
-
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
-
S.C. Brown, S. Torelli, and M. Brockington Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies Am J Pathol 164 2004 727 737
-
(2004)
Am J Pathol
, vol.164
, pp. 727-737
-
-
Brown, S.C.1
Torelli, S.2
Brockington, M.3
-
16
-
-
10744223007
-
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities Identification of a founder mutation in Tunisian families
-
N. Louhichi, C. Triki, and S. Quijano-Roy New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities Identification of a founder mutation in Tunisian families Neurogenetics 5 2004 27 34
-
(2004)
Neurogenetics
, vol.5
, pp. 27-34
-
-
Louhichi, N.1
Triki, C.2
Quijano-Roy, S.3
-
17
-
-
0037465832
-
FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts
-
H. Topaloglu, M. Brockington, and Y. Yuva FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts Neurology 60 2003 988 992
-
(2003)
Neurology
, vol.60
, pp. 988-992
-
-
Topaloglu, H.1
Brockington, M.2
Yuva, Y.3
-
18
-
-
3042850663
-
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
-
D. Beltran-Valero de Bernabe, T. Voit, and C. Longman Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome J Med Genet 41 2004 e61
-
(2004)
J Med Genet
, vol.41
, pp. 61
-
-
Beltran-Valero De Bernabe, D.1
Voit, T.2
Longman, C.3
-
20
-
-
0038392675
-
Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease
-
H. Manya, K. Sakai, and K. Kobayashi Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease Biochem Biophys Res Commun 306 2003 93 97
-
(2003)
Biochem Biophys Res Commun
, vol.306
, pp. 93-97
-
-
Manya, H.1
Sakai, K.2
Kobayashi, K.3
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