-
1
-
-
4444234437
-
The congenital muscular dystrophies in 2004: A century of exciting progress
-
F. Muntoni, and T. Voit The congenital muscular dystrophies in 2004: a century of exciting progress Neuromuscul Disord 14 2004 635 649
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 635-649
-
-
Muntoni, F.1
Voit, T.2
-
3
-
-
0027465925
-
Changes in architecture of the Golgi complex and other subcellular organelles during myogenesis
-
E. Ralston Changes in architecture of the Golgi complex and other subcellular organelles during myogenesis J Cell Biol 120 1993 399 409
-
(1993)
J Cell Biol
, vol.120
, pp. 399-409
-
-
Ralston, E.1
-
4
-
-
0035109715
-
Golgi complex, endoplasmic reticulum exit sites, and microtubules in skeletal muscle fibers are organized by patterned activity
-
E. Ralston, T. Ploug, J. Kalhovde, and T. Lomo Golgi complex, endoplasmic reticulum exit sites, and microtubules in skeletal muscle fibers are organized by patterned activity J Neurosci 21 2001 875 883
-
(2001)
J Neurosci
, vol.21
, pp. 875-883
-
-
Ralston, E.1
Ploug, T.2
Kalhovde, J.3
Lomo, T.4
-
5
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta
-
C. Zhao, J. Takita, Y. Tanaka, M. Setou, T. Nakagawa, and S. Takeda Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta Cell 105 2001 587 597
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
Setou, M.4
Nakagawa, T.5
Takeda, S.6
-
6
-
-
1842423548
-
Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle
-
A. Molon, S. Di Giovanni, Y.W. Chen, P.M. Clarkson, C. Angelini, and E. Pegoraro Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle Neurology 62 2004 1097 1104
-
(2004)
Neurology
, vol.62
, pp. 1097-1104
-
-
Molon, A.1
Di Giovanni, S.2
Chen, Y.W.3
Clarkson, P.M.4
Angelini, C.5
Pegoraro, E.6
-
7
-
-
0033573371
-
The organization of the Golgi complex and microtubules in skeletal muscle is fiber type-dependent
-
E. Ralston, Z. Lu, and T. Ploug The organization of the Golgi complex and microtubules in skeletal muscle is fiber type-dependent J Neurosci 19 1999 10694 10705
-
(1999)
J Neurosci
, vol.19
, pp. 10694-10705
-
-
Ralston, E.1
Lu, Z.2
Ploug, T.3
-
8
-
-
0037687985
-
Selenoprotein N: An endoplasmic reticulum glycoprotein with an early developmental expression pattern
-
N. Petit, A. Lescure, M. Rederstorff, A. Krol, B. Moghadaszadeh, and U.M. Wewer Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern Hum Mol Genet 12 2003 1045 1053
-
(2003)
Hum Mol Genet
, vol.12
, pp. 1045-1053
-
-
Petit, N.1
Lescure, A.2
Rederstorff, M.3
Krol, A.4
Moghadaszadeh, B.5
Wewer, U.M.6
-
9
-
-
11144353966
-
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene
-
A. Ferreiro, C. Ceuterick-de Groote, J.J. Marks, N. Goemans, G. Schreiber, and F. Hanefeld Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene Ann Neurol 55 2004 676 686
-
(2004)
Ann Neurol
, vol.55
, pp. 676-686
-
-
Ferreiro, A.1
Ceuterick-De Groote, C.2
Marks, J.J.3
Goemans, N.4
Schreiber, G.5
Hanefeld, F.6
-
10
-
-
0141963203
-
O-mannosyl glycans: From yeast to novel associations with human disease
-
T. Willer, M.C. Valero, W. Tanner, J. Cruces, and S. Strahl O-mannosyl glycans: from yeast to novel associations with human disease Curr Opin Struct Biol 13 2003 621 630
-
(2003)
Curr Opin Struct Biol
, vol.13
, pp. 621-630
-
-
Willer, T.1
Valero, M.C.2
Tanner, W.3
Cruces, J.4
Strahl, S.5
-
11
-
-
0043092634
-
O-mannosylation precedes and potentially controls the N-glycosylation of a yeast cell wall glycoprotein
-
M. Ecker, V. Mrsa, I. Hagen, R. Deutzmann, S. Strahl, and W. Tanner O-mannosylation precedes and potentially controls the N-glycosylation of a yeast cell wall glycoprotein EMBO Rep 4 2003 628 632
-
(2003)
EMBO Rep
, vol.4
, pp. 628-632
-
-
Ecker, M.1
Mrsa, V.2
Hagen, I.3
Deutzmann, R.4
Strahl, S.5
Tanner, W.6
-
12
-
-
1842467267
-
Glycosylation in congenital muscular dystrophies
-
T. Endo, and T. Toda Glycosylation in congenital muscular dystrophies Biol Pharm Bull 26 2003 1641 1647
-
(2003)
Biol Pharm Bull
, vol.26
, pp. 1641-1647
-
-
Endo, T.1
Toda, T.2
-
13
-
-
0037173670
-
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
-
D.E. Michele, R. Barresi, M. Kanagawa, F. Saito, R.D. Cohn, and J.S. Satz 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
Saito, F.4
Cohn, R.D.5
Satz, J.S.6
-
14
-
-
0031026624
-
Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. the role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin
-
A. Chiba, K. Matsumura, H. Yamada, T. Inazu, T. Shimizu, and S. Kusunoki Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin J Biol Chem 272 1997 2156 2162
-
(1997)
J Biol Chem
, vol.272
, pp. 2156-2162
-
-
Chiba, A.1
Matsumura, K.2
Yamada, H.3
Inazu, T.4
Shimizu, T.5
Kusunoki, S.6
-
15
-
-
0032712593
-
O-mannosyl glycans in mammals
-
T. Endo O-mannosyl glycans in mammals Biochim Biophys Acta 1473 1999 237 246
-
(1999)
Biochim Biophys Acta
, vol.1473
, pp. 237-246
-
-
Endo, T.1
-
16
-
-
5644228696
-
The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity
-
T. Ichimiya, H. Manya, Y. Ohmae, H. Yoshida, K. Takahashi, and R. Ueda The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity J Biol Chem 279 2004 42638 42647
-
(2004)
J Biol Chem
, vol.279
, pp. 42638-42647
-
-
Ichimiya, T.1
Manya, H.2
Ohmae, Y.3
Yoshida, H.4
Takahashi, K.5
Ueda, R.6
-
17
-
-
26944438148
-
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome
-
J. van Reeuwijk, M. Janssen, C. van den Elzen, D. Beltran-Valero de Bernabe, P. Sabatelli, and L. Merlini POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome J Med Genet 2005
-
(2005)
J Med Genet
-
-
Van Reeuwijk, J.1
Janssen, M.2
Van Den Elzen, C.3
Beltran-Valero De Bernabe, D.4
Sabatelli, P.5
Merlini, L.6
-
18
-
-
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, A. Steinbrecher, J. Celli, E. van Beusekom, and B. van der Zwaag 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
Celli, J.4
Van Beusekom, E.5
Van Der Zwaag, B.6
-
19
-
-
4644252932
-
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality
-
T. Willer, B. Prados, J.M Falcon-Perez, I. Renner-Muller, G.K. Przemeck, and M. Lommel Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality Proc Natl Acad Sci U S A 101 2004 14126 14131
-
(2004)
Proc Natl Acad Sci U S a
, vol.101
, pp. 14126-14131
-
-
Willer, T.1
Prados, B.2
Falcon-Perez, J.M.3
Renner-Muller, I.4
Przemeck, G.K.5
Lommel, M.6
-
20
-
-
20144388364
-
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
-
B. Balci, G. Uyanik, P. Dincer, C. Gross, T. Willer, and B. Talim An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene Neuromuscul Disord 15 2005 271 275
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 271-275
-
-
Balci, B.1
Uyanik, G.2
Dincer, P.3
Gross, C.4
Willer, T.5
Talim, B.6
-
21
-
-
10744221198
-
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan
-
P. Dincer, B. Balci, Y. Yuva, B. Talim, M. Brockington, and D. Dincel A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan Neuromuscul Disord 13 2003 771 778
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 771-778
-
-
Dincer, P.1
Balci, B.2
Yuva, Y.3
Talim, B.4
Brockington, M.5
Dincel, D.6
-
22
-
-
0037340155
-
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease
-
K. Taniguchi, K. Kobayashi, K. Saito, H. Yamanouchi, A. Ohnuma, and Y.K. Hayashi 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
Yamanouchi, H.4
Ohnuma, A.5
Hayashi, Y.K.6
-
23
-
-
0037371206
-
A new mutation of the fukutin gene in a non-Japanese patient
-
F. Silan, M. Yoshioka, K. Kobayashi, E. Simsek, M. Tunc, and M. Alper A new mutation of the fukutin gene in a non-Japanese patient Ann Neurol 53 2003 392 396
-
(2003)
Ann Neurol
, vol.53
, pp. 392-396
-
-
Silan, F.1
Yoshioka, M.2
Kobayashi, K.3
Simsek, E.4
Tunc, M.5
Alper, M.6
-
24
-
-
1542379704
-
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
-
S.C. Brown, S. Torelli, M. Brockington, Y. Yuva, C. Jimenez, and L. Feng 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
Yuva, Y.4
Jimenez, C.5
Feng, L.6
-
25
-
-
20144388234
-
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan
-
H. Matsumoto, Y.K. Hayashi, D.S. Kim, M. Ogawa, T. Murakami, and S. Noguchi Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan Neuromuscul Disord 15 2005 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
Noguchi, S.6
-
26
-
-
17044379028
-
A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy
-
C.A. Browning, P.K. Grewal, C.J. Moore, and J.E. Hewitt A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy Neuromuscul Disord 15 2005 331 335
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 331-335
-
-
Browning, C.A.1
Grewal, P.K.2
Moore, C.J.3
Hewitt, J.E.4
-
27
-
-
14644405017
-
Localization and functional analysis of the LARGE family of glycosyltransferases: Significance for muscular dystrophy
-
M. Brockington, S. Torelli, P. Prandini, C. Boito, N.F. Dolatshad, and C. Longman Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy Hum Mol Genet 14 2005 657 665
-
(2005)
Hum Mol Genet
, vol.14
, pp. 657-665
-
-
Brockington, M.1
Torelli, S.2
Prandini, P.3
Boito, C.4
Dolatshad, N.F.5
Longman, C.6
-
28
-
-
0033911803
-
Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42
-
M. Brockington, C.A. Sewry, R. Herrmann, I. Naom, A. Dearlove, and M. Rhodes Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42 Am J Hum Genet 66 2000 428 435
-
(2000)
Am J Hum Genet
, vol.66
, pp. 428-435
-
-
Brockington, M.1
Sewry, C.A.2
Herrmann, R.3
Naom, I.4
Dearlove, A.5
Rhodes, M.6
-
29
-
-
0034887660
-
Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: Report of three siblings
-
V. Ruggieri, F. Lubieniecki, F. Meli, D. Diaz, E. Ferragut, and K. Saito Merosin-positive congenital muscular dystrophy with mental retardation, microcephaly and central nervous system abnormalities unlinked to the Fukuyama muscular dystrophy and muscular-eye-brain loci: report of three siblings Neuromuscul Disord 11 2001 570 578
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 570-578
-
-
Ruggieri, V.1
Lubieniecki, F.2
Meli, F.3
Diaz, D.4
Ferragut, E.5
Saito, K.6
-
30
-
-
17444365843
-
Basement membrane fragility underlies embryonic lethality in fukutin-null mice
-
H. Kurahashi, M. Taniguchi, C. Meno, Y. Taniguchi, S. Takeda, and M. Horie Basement membrane fragility underlies embryonic lethality in fukutin-null mice Neurobiol Dis 19 2005 208 217
-
(2005)
Neurobiol Dis
, vol.19
, pp. 208-217
-
-
Kurahashi, H.1
Taniguchi, M.2
Meno, C.3
Taniguchi, Y.4
Takeda, S.5
Horie, M.6
-
31
-
-
19344371570
-
Effects of fukutin deficiency in the developing mouse brain
-
T. Chiyonobu, J. Sasaki, Y. Nagai, S. Takeda, H. Funakoshi, and T. Nakamura Effects of fukutin deficiency in the developing mouse brain Neuromuscul Disord 15 2005 416 426
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 416-426
-
-
Chiyonobu, T.1
Sasaki, J.2
Nagai, Y.3
Takeda, S.4
Funakoshi, H.5
Nakamura, T.6
-
32
-
-
2942733346
-
Molecular recognition by LARGE is essential for expression of functional dystroglycan
-
M. Kanagawa, F. Saito, S. Kunz, T. Yoshida-Moriguchi, R. Barresi, and Y.M. Kobayashi Molecular recognition by LARGE is essential for expression of functional dystroglycan Cell 117 2004 953 964
-
(2004)
Cell
, vol.117
, pp. 953-964
-
-
Kanagawa, M.1
Saito, F.2
Kunz, S.3
Yoshida-Moriguchi, T.4
Barresi, R.5
Kobayashi, Y.M.6
-
33
-
-
3142731311
-
LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies
-
R. Barresi, D.E. Michele, M. Kanagawa, H.A. Harper, S.A Dovico, and J.S. Satz LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies Nat Med 10 2004 696 703
-
(2004)
Nat Med
, vol.10
, pp. 696-703
-
-
Barresi, R.1
Michele, D.E.2
Kanagawa, M.3
Harper, H.A.4
Dovico, S.A.5
Satz, J.S.6
|