-
1
-
-
0000642664
-
Satellite cell of skeletal muscle fibers
-
Mauro A. 1961. Satellite cell of skeletal muscle fibers. J. Biophys. Biochem. Cytol. 9:493-95
-
(1961)
J. Biophys. Biochem. Cytol
, vol.9
, pp. 493-495
-
-
Mauro, A.1
-
2
-
-
20544441737
-
A Pax3/Pax7-dependent population of skeletal muscle progenitor cells
-
Relaix F, Rocancourt D, Mansouri A, Buckingham M. 2005. A Pax3/Pax7-dependent population of skeletal muscle progenitor cells. Nature 435:948-53
-
(2005)
Nature
, vol.435
, pp. 948-953
-
-
Relaix, F.1
Rocancourt, D.2
Mansouri, A.3
Buckingham, M.4
-
3
-
-
0037112338
-
Biological progression from adult bone marrow to mononucleate muscle stem cell to multinucleate muscle fiber in response to injury
-
LaBarge MA, Blau HM. 2002. Biological progression from adult bone marrow to mononucleate muscle stem cell to multinucleate muscle fiber in response to injury. Cell 111:589-601
-
(2002)
Cell
, vol.111
, pp. 589-601
-
-
LaBarge, M.A.1
Blau, H.M.2
-
5
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, et al. 1998. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388-92
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
Matsumura, K.4
Kondo-Iida, E.5
-
6
-
-
18044400450
-
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
-
Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, et al. 2001. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1:717-24
-
(2001)
Dev. Cell
, vol.1
, pp. 717-724
-
-
Yoshida, A.1
Kobayashi, K.2
Manya, H.3
Taniguchi, K.4
Kano, H.5
-
7
-
-
0038185363
-
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
-
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, et al. 2002. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71:1033-43
-
(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
-
8
-
-
3042850663
-
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
-
Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, et al. 2004. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J. Med. Genet. 41:e61
-
(2004)
J. Med. Genet
, vol.41
-
-
Beltran-Valero de Bernabe, D.1
Voit, T.2
Longman, C.3
Steinbrecher, A.4
Straub, V.5
-
9
-
-
0037380737
-
Phenotypic spectrum associated with mutations in the fukutin-related protein gene
-
Mercuri E, Brockington M, Straub V, Quijano-Roy S, Yuva Y, et al. 2003. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann. Neurol. 53:537-42
-
(2003)
Ann. Neurol
, vol.53
, pp. 537-542
-
-
Mercuri, E.1
Brockington, M.2
Straub, V.3
Quijano-Roy, S.4
Yuva, Y.5
-
10
-
-
32244440192
-
Dystroglycan: From biosynthesis to pathogenesis of human disease
-
Barresi R, Campbell KP. 2006. Dystroglycan: from biosynthesis to pathogenesis of human disease. J. Cell Sci. 119:199-207
-
(2006)
J. Cell Sci
, vol.119
, pp. 199-207
-
-
Barresi, R.1
Campbell, K.P.2
-
11
-
-
28244441259
-
Alpha-dystroglycan, the usual suspect?
-
Brancaccio A. 2005. Alpha-dystroglycan, the usual suspect? Neuromuscul. Disord. 15:825-28
-
(2005)
Neuromuscul. Disord
, vol.15
, pp. 825-828
-
-
Brancaccio, A.1
-
13
-
-
0027321171
-
Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin
-
Gee SH, Blacher RW, Douville PJ, Provost PR, Yurchenco PD, Carbonetto S. 1993. Laminin-binding protein 120 from brain is closely related to the dystrophin-associated glycoprotein, dystroglycan, and binds with high affinity to the major heparin binding domain of laminin. J. Biol. Chem. 268:14972-80
-
(1993)
J. Biol. Chem
, vol.268
, pp. 14972-14980
-
-
Gee, S.H.1
Blacher, R.W.2
Douville, P.J.3
Provost, P.R.4
Yurchenco, P.D.5
Carbonetto, S.6
-
14
-
-
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
-
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, et al. 2001. 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. 69:1198-209
-
(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
-
15
-
-
0032723417
-
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD)
-
Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, et al. 1999. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum. Mol. Genet. 8:2303-9
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 2303-2309
-
-
Kondo-Iida, E.1
Kobayashi, K.2
Watanabe, M.3
Sasaki, J.4
Kumagai, T.5
-
16
-
-
1042268038
-
The congenital and limb-girdle muscular dystrophies: Sharpening the focus, blurring the boundaries
-
Kirschner J, Bonnemann CG. 2004. The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries. Arch. Neurol. 61:189-99
-
(2004)
Arch. Neurol
, vol.61
, pp. 189-199
-
-
Kirschner, J.1
Bonnemann, C.G.2
-
17
-
-
9344239893
-
Journey into muscular dystrophies caused by abnormal glycosylation
-
Muntoni F. 2004. Journey into muscular dystrophies caused by abnormal glycosylation. Acta Myol. 23:79-84
-
(2004)
Acta Myol
, vol.23
, pp. 79-84
-
-
Muntoni, F.1
-
18
-
-
6944237265
-
Glycosylation defects in muscular dystrophies
-
Haliloglu G, Topaloglu H. 2004. Glycosylation defects in muscular dystrophies. Curr. Opin. Neurol. 17:521-27
-
(2004)
Curr. Opin. Neurol
, vol.17
, pp. 521-527
-
-
Haliloglu, G.1
Topaloglu, H.2
-
19
-
-
28244500576
-
Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
-
Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, et al. 2005. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscul. Disord. 15:836-43
-
(2005)
Neuromuscul. Disord
, vol.15
, pp. 836-843
-
-
Torelli, S.1
Brown, S.C.2
Brockington, M.3
Dolatshad, N.F.4
Jimenez, C.5
-
20
-
-
12744279620
-
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
-
Esapa CT, McIlhinney RA, Blake DJ. 2005. Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells. Hum. Mol. Genet. 14:295-305
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 295-305
-
-
Esapa, C.T.1
McIlhinney, R.A.2
Blake, D.J.3
-
21
-
-
27244440999
-
Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
-
Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE. 2005. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology 15:912-23
-
(2005)
Glycobiology
, vol.15
, pp. 912-923
-
-
Grewal, P.K.1
McLaughlan, J.M.2
Moore, C.J.3
Browning, C.A.4
Hewitt, J.E.5
-
22
-
-
3142628122
-
Subcellular localization of fukutin and fukutin-related protein in muscle cells
-
Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, et al. 2004. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J. Biochem. 135:709-12
-
(2004)
J. Biochem
, vol.135
, pp. 709-712
-
-
Matsumoto, H.1
Noguchi, S.2
Sugie, K.3
Ogawa, M.4
Murayama, K.5
-
23
-
-
0030997888
-
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: From identification of mutations to prenatal diagnosis
-
Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, et al. 1997. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul. Disord. 7:180-86
-
(1997)
Neuromuscul. Disord
, vol.7
, pp. 180-186
-
-
Guicheney, P.1
Vignier, N.2
Helbling-Leclerc, A.3
Nissinen, M.4
Zhang, X.5
-
24
-
-
0031594947
-
Laminin alpha2 muscular dystrophy: Genotype/phenotype studies of 22 patients
-
Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, et al. 1998. Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 51:101-10
-
(1998)
Neurology
, vol.51
, pp. 101-110
-
-
Pegoraro, E.1
Marks, H.2
Garcia, C.A.3
Crawford, T.4
Mancias, P.5
-
25
-
-
0028092013
-
Molecular diagnosis and modern management of Duchenne muscular dystrophy
-
Miller RG, Hoffman EP. 1994. Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol. Clin. 12:699-725
-
(1994)
Neurol. Clin
, vol.12
, pp. 699-725
-
-
Miller, R.G.1
Hoffman, E.P.2
-
26
-
-
0035980912
-
Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients
-
Chaturvedi LS, Mukherjee M, Srivastava S, Mittal RD, Mittal B. 2001. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients. Exp. Mol. Med. 33:251-56
-
(2001)
Exp. Mol. Med
, vol.33
, pp. 251-256
-
-
Chaturvedi, L.S.1
Mukherjee, M.2
Srivastava, S.3
Mittal, R.D.4
Mittal, B.5
-
27
-
-
0024353559
-
The molecular basis of muscular dystrophy in the mdx mouse: A point mutation
-
Sicinski P, Geng Y, Ryder-Cook AS, Barnard EA, Darlison MG, Barnard PJ. 1989. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244:1578-80
-
(1989)
Science
, vol.244
, pp. 1578-1580
-
-
Sicinski, P.1
Geng, Y.2
Ryder-Cook, A.S.3
Barnard, E.A.4
Darlison, M.G.5
Barnard, P.J.6
-
28
-
-
1442353747
-
Readthrough of dystrophin stop codon mutations induced by aminoglycosides
-
Howard MT, Anderson CB, Fass U, Khatri S, Gesteland RF, et al. 2004. Readthrough of dystrophin stop codon mutations induced by aminoglycosides. Ann. Neurol. 55:422-26
-
(2004)
Ann. Neurol
, vol.55
, pp. 422-426
-
-
Howard, M.T.1
Anderson, C.B.2
Fass, U.3
Khatri, S.4
Gesteland, R.F.5
-
29
-
-
0032720705
-
Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
-
Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL. 1999. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J. Clin. Invest. 104:375-81
-
(1999)
J. Clin. Invest
, vol.104
, pp. 375-381
-
-
Barton-Davis, E.R.1
Cordier, L.2
Shoturma, D.I.3
Leland, S.E.4
Sweeney, H.L.5
-
30
-
-
0033583984
-
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: A cohort study
-
Hoogerwaard EM, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, et al. 1999. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 353:2116-19
-
(1999)
Lancet
, vol.353
, pp. 2116-2119
-
-
Hoogerwaard, E.M.1
Bakker, E.2
Ippel, P.F.3
Oosterwijk, J.C.4
Majoor-Krakauer, D.F.5
-
31
-
-
0025217703
-
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility
-
Koenig M, Kunkel LM. 1990. Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J. Biol. Chem. 265:4560-66
-
(1990)
J. Biol. Chem
, vol.265
, pp. 4560-4566
-
-
Koenig, M.1
Kunkel, L.M.2
-
32
-
-
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
-
33
-
-
0034605070
-
The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin
-
Rybakova IN, Patel JR, Ervasti JM. 2000. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J. Cell Biol. 150:1209-14
-
(2000)
J. Cell Biol
, vol.150
, pp. 1209-1214
-
-
Rybakova, I.N.1
Patel, J.R.2
Ervasti, J.M.3
-
34
-
-
0028817970
-
Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: Evidence of apoptosis in dystrophin-deficient muscle
-
Matsuda R, Nishikawa A, Tanaka H. 1995. Visualization of dystrophic muscle fibers in mdx mouse by vital staining with Evans blue: evidence of apoptosis in dystrophin-deficient muscle. J. Biochem. 118:959-64
-
(1995)
J. Biochem
, vol.118
, pp. 959-964
-
-
Matsuda, R.1
Nishikawa, A.2
Tanaka, H.3
-
35
-
-
0030783172
-
Animal models for muscular dystrophy show different patterns of sarcolemmal disruption
-
Straub V, Rafael JA, Chamberlain JS, Campbell KP. 1997. Animal models for muscular dystrophy show different patterns of sarcolemmal disruption. J. Cell Biol. 139:375-85
-
(1997)
J. Cell Biol
, vol.139
, pp. 375-385
-
-
Straub, V.1
Rafael, J.A.2
Chamberlain, J.S.3
Campbell, K.P.4
-
36
-
-
4043092073
-
Systemic delivery of genes to striated muscles using adeno-associated viral vectors
-
Gregorevic P, Blankinship MJ, Allen JM, Crawford RW, Meuse L, et al. 2004. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat. Med. 10:828-34
-
(2004)
Nat. Med
, vol.10
, pp. 828-834
-
-
Gregorevic, P.1
Blankinship, M.J.2
Allen, J.M.3
Crawford, R.W.4
Meuse, L.5
-
37
-
-
0034468908
-
How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes
-
Alderton JM, Steinhardt RA. 2000. How calcium influx through calcium leak channels is responsible for the elevated levels of calcium-dependent proteolysis in dystrophic myotubes. Trends Cardiovasc. Med. 10:268-72
-
(2000)
Trends Cardiovasc. Med
, vol.10
, pp. 268-272
-
-
Alderton, J.M.1
Steinhardt, R.A.2
-
38
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD, Gaver MG, Campbell KP. 1990. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 345:315-19
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
Gaver, M.G.4
Campbell, K.P.5
-
39
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E. 1990. Glycoprotein complex anchoring dystrophin to sarcolemma. J. Biochem. 108:748-52
-
(1990)
J. Biochem
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
40
-
-
2342621479
-
The dystrophin glycoprotein complex: Signaling strength and integrity for the sarcolemma
-
Lapidos KA, Kakkar R, McNally EM. 2004. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ. Res. 94:1023-31
-
(2004)
Circ. Res
, vol.94
, pp. 1023-1031
-
-
Lapidos, K.A.1
Kakkar, R.2
McNally, E.M.3
-
41
-
-
28544447912
-
The muscular dystrophies: From genes to therapies
-
Lovering RM, Porter NC, Bloch RJ. 2005. The muscular dystrophies: from genes to therapies. Phys. Ther. 85:1372-88
-
(2005)
Phys. Ther
, vol.85
, pp. 1372-1388
-
-
Lovering, R.M.1
Porter, N.C.2
Bloch, R.J.3
-
42
-
-
0036945322
-
Defect in microvascular adaptation to chronic changes in blood flow in mice lacking the gene encoding for dystrophin
-
Loufrani L, Levy BI, Henrion D. 2002. Defect in microvascular adaptation to chronic changes in blood flow in mice lacking the gene encoding for dystrophin. Circ. Res. 91:1183-89
-
(2002)
Circ. Res
, vol.91
, pp. 1183-1189
-
-
Loufrani, L.1
Levy, B.I.2
Henrion, D.3
-
43
-
-
0034610326
-
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy
-
Sander M, Chavoshan B, Harris SA, Iannaccone ST, Stull JT, et al. 2000. Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc. Natl. Acad. Sci. USA 97:13818-23
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 13818-13823
-
-
Sander, M.1
Chavoshan, B.2
Harris, S.A.3
Iannaccone, S.T.4
Stull, J.T.5
-
44
-
-
0037459338
-
Vasomodulation by skeletal muscle-derived nitric oxide requires alpha-syntrophin-mediated sarcolemmal localization of neuronal Nitric oxide synthase
-
Thomas GD, Shaul PW, Yuhanna IS, Froehner SC, Adams ME. 2003. Vasomodulation by skeletal muscle-derived nitric oxide requires alpha-syntrophin-mediated sarcolemmal localization of neuronal Nitric oxide synthase. Circ. Res. 92:554-60
-
(2003)
Circ. Res
, vol.92
, pp. 554-560
-
-
Thomas, G.D.1
Shaul, P.W.2
Yuhanna, I.S.3
Froehner, S.C.4
Adams, M.E.5
-
45
-
-
27144471385
-
Molecular and cell biology of the sarcoglycan complex
-
Ozawa E, Mizuno Y, Hagiwara Y, Sasaoka T, Yoshida M. 2005. Molecular and cell biology of the sarcoglycan complex. Muse. Nerv. 32:563-76
-
(2005)
Muse. Nerv
, vol.32
, pp. 563-576
-
-
Ozawa, E.1
Mizuno, Y.2
Hagiwara, Y.3
Sasaoka, T.4
Yoshida, M.5
-
46
-
-
17944378309
-
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, et al. 2001. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 29:66-69
-
(2001)
Nat. Genet
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
Naumann, M.4
Berg, D.5
-
47
-
-
0036714792
-
Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy
-
Wheeler MT, Zarnegar S, McNally EM. 2002. Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. Hum. Mol. Genet. 11:2147-54
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 2147-2154
-
-
Wheeler, M.T.1
Zarnegar, S.2
McNally, E.M.3
-
48
-
-
0029047106
-
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
-
Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, et al. 1995. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum. Mol. Genet. 4:1163-67
-
(1995)
Hum. Mol. Genet
, vol.4
, pp. 1163-1167
-
-
Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
Chamberlain, J.4
Marie, S.K.5
-
49
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation
-
McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, et al. 1996. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am. J. Hum. Genet. 59:1040-47
-
(1996)
Am. J. Hum. Genet
, vol.59
, pp. 1040-1047
-
-
McNally, E.M.1
Passos-Bueno, M.R.2
Bonnemann, C.G.3
Vainzof, M.4
de Sa Moreira, E.5
-
50
-
-
23744492499
-
Genetic-background influences muscular dystrophy
-
Heydemann A, Huber JM, Demonbreun A, Hadhazy M, McNally EM. 2005. Genetic-background influences muscular dystrophy. Neuromuscul. Disord. 15:601-9
-
(2005)
Neuromuscul. Disord
, vol.15
, pp. 601-609
-
-
Heydemann, A.1
Huber, J.M.2
Demonbreun, A.3
Hadhazy, M.4
McNally, E.M.5
-
51
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
Vainzof M, Passos-Bueno MR, Canovas M, Moreira ES, Pavanello RC, et al. 1996. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum. Mol. Genet. 5:1963-69
-
(1996)
Hum. Mol. Genet
, vol.5
, pp. 1963-1969
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Canovas, M.3
Moreira, E.S.4
Pavanello, R.C.5
-
52
-
-
0033885496
-
Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
-
Hack AA, Lam MY, Cordier L, Shoturma DI, Ly CT, et al. 2000. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J. Cell Sci. 113(Pt 14):2535-44
-
(2000)
J. Cell Sci
, vol.113
, Issue.PART 14
, pp. 2535-2544
-
-
Hack, A.A.1
Lam, M.Y.2
Cordier, L.3
Shoturma, D.I.4
Ly, C.T.5
-
53
-
-
0033600605
-
ε-sarcoglycan replaces α-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex
-
Straub V, Ettinger AJ, Durbeej M, Venzke DP, Cutshall S, et al. 1999. ε-sarcoglycan replaces α-sarcoglycan in smooth muscle to form a unique dystrophin-glycoprotein complex. J. Biol. Chem. 274:27989-96
-
(1999)
J. Biol. Chem
, vol.274
, pp. 27989-27996
-
-
Straub, V.1
Ettinger, A.J.2
Durbeej, M.3
Venzke, D.P.4
Cutshall, S.5
-
54
-
-
0033588050
-
Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
-
Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, et al. 1999. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98:465-74
-
(1999)
Cell
, vol.98
, pp. 465-474
-
-
Coral-Vazquez, R.1
Cohn, R.D.2
Moore, S.A.3
Hill, J.A.4
Weiss, R.M.5
-
55
-
-
1842434556
-
Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
-
Wheeler MT, Allikian MJ, Heydemann A, Hadhazy M, Zarnegar S, McNally EM. 2004. Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J. Clin. Invest. 113:668-75
-
(2004)
J. Clin. Invest
, vol.113
, pp. 668-675
-
-
Wheeler, M.T.1
Allikian, M.J.2
Heydemann, A.3
Hadhazy, M.4
Zarnegar, S.5
McNally, E.M.6
-
56
-
-
0032955751
-
Dysferlin is a plasma membrane protein and is expressed early in human development
-
Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, et al. 1999. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum. Mol. Genet. 8:855-61
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 855-861
-
-
Anderson, L.V.1
Davison, K.2
Moss, J.A.3
Young, C.4
Cullen, M.J.5
-
57
-
-
0030972880
-
A nematode gene required for sperm vesicle fusion
-
Achanzar WE, Ward S. 1997. A nematode gene required for sperm vesicle fusion. J. Cell Sci. 110:1073-81
-
(1997)
J. Cell Sci
, vol.110
, pp. 1073-1081
-
-
Achanzar, W.E.1
Ward, S.2
-
58
-
-
0019848568
-
Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans
-
Ward S, Argon Y, Nelson GA. 1981. Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans. J. Cell Biol. 91:26-44
-
(1981)
J. Cell Biol
, vol.91
, pp. 26-44
-
-
Ward, S.1
Argon, Y.2
Nelson, G.A.3
-
59
-
-
0033673056
-
Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies
-
Piccolo F, Moore SA, Ford GC, Campbell KP. 2000. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann. Neurol. 48:902-12
-
(2000)
Ann. Neurol
, vol.48
, pp. 902-912
-
-
Piccolo, F.1
Moore, S.A.2
Ford, G.C.3
Campbell, K.P.4
-
60
-
-
0035849492
-
The earliest pathologic alterations in dysferlinopathy
-
Selcen D, Stilling G, Engel AG. 2001. The earliest pathologic alterations in dysferlinopathy. Neurology 56:1472-81
-
(2001)
Neurology
, vol.56
, pp. 1472-1481
-
-
Selcen, D.1
Stilling, G.2
Engel, A.G.3
-
61
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, et al. 2003. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423:168-72
-
(2003)
Nature
, vol.423
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
Groh, S.4
Chen, C.C.5
-
62
-
-
13244284886
-
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
-
Cenacchi G, Fanin M, De Giorgi LB, Angelini C. 2005. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J. Clin. Pathol. 58:190-95
-
(2005)
J. Clin. Pathol
, vol.58
, pp. 190-195
-
-
Cenacchi, G.1
Fanin, M.2
De Giorgi, L.B.3
Angelini, C.4
-
63
-
-
0042427273
-
Repairing the tears: Dysferlin in muscle membrane repair
-
Doherty KR, McNally EM. 2003. Repairing the tears: dysferlin in muscle membrane repair. Trends Mol. Med. 9:327-30
-
(2003)
Trends Mol. Med
, vol.9
, pp. 327-330
-
-
Doherty, K.R.1
McNally, E.M.2
-
64
-
-
0035282457
-
Synaptotagmin I functions as a calcium regulator of release probability
-
Fernandez-Chacon R, Konigstorfer A, Gerber SH, Garcia J, Matos MF, et al. 2001. Synaptotagmin I functions as a calcium regulator of release probability. Nature 410:41-49
-
(2001)
Nature
, vol.410
, pp. 41-49
-
-
Fernandez-Chacon, R.1
Konigstorfer, A.2
Gerber, S.H.3
Garcia, J.4
Matos, M.F.5
-
65
-
-
0037151075
-
Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
-
Davis DB, Doherty KR, Delmonte AJ, McNally EM. 2002. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. J. Biol. Chem. 277:22883-88
-
(2002)
J. Biol. Chem
, vol.277
, pp. 22883-22888
-
-
Davis, D.B.1
Doherty, K.R.2
Delmonte, A.J.3
McNally, E.M.4
-
66
-
-
0033972161
-
Myoferlin, a candidate gene and potential modifier of muscular dystrophy
-
Davis DB, Delmonte AJ, Ly CT, McNally EM. 2000. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. Hum. Mol. Genet. 9:217-26
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 217-226
-
-
Davis, D.B.1
Delmonte, A.J.2
Ly, C.T.3
McNally, E.M.4
-
67
-
-
31144438673
-
Normal myoblast fusion requires myoferlin
-
Doherty KR, Cave A, Davis DB, Delmonte AJ, Posey A, et al. 2005. Normal myoblast fusion requires myoferlin. Development 132:5565-75
-
(2005)
Development
, vol.132
, pp. 5565-5575
-
-
Doherty, K.R.1
Cave, A.2
Davis, D.B.3
Delmonte, A.J.4
Posey, A.5
-
68
-
-
0034709195
-
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
-
McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, et al. 2000. Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am. J. Med. Genet. 91:305-12
-
(2000)
Am. J. Med. Genet
, vol.91
, pp. 305-312
-
-
McNally, E.M.1
Ly, C.T.2
Rosenmann, H.3
Mitrani Rosenbaum, S.4
Jiang, W.5
-
69
-
-
0035846620
-
Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients
-
Gallardo E, Rojas-Garcia R, de Luna N, Pou A, Brown RHJ, Illa I. 2001. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57:2136-38
-
(2001)
Neurology
, vol.57
, pp. 2136-2138
-
-
Gallardo, E.1
Rojas-Garcia, R.2
de Luna, N.3
Pou, A.4
Brown, R.H.J.5
Illa, I.6
-
70
-
-
0036866960
-
Clarifying the boundaries between the inflammatory and dystrophic myopathies: Insights from molecular diagnostics and microarrays
-
Hoffman EP, Rao D, Pachman LM. 2002. Clarifying the boundaries between the inflammatory and dystrophic myopathies: insights from molecular diagnostics and microarrays. Rheum. Dis. Clin. North Am. 28:743-57
-
(2002)
Rheum. Dis. Clin. North Am
, vol.28
, pp. 743-757
-
-
Hoffman, E.P.1
Rao, D.2
Pachman, L.M.3
-
71
-
-
0032897762
-
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)
-
Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, et al. 1999. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum. Mol. Genet. 8:871-77
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 871-877
-
-
Weiler, T.1
Bashir, R.2
Anderson, L.V.3
Davison, K.4
Moss, J.A.5
-
73
-
-
0141815578
-
Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans
-
Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, et al. 2003. Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans. Musc. Nerv. 28:472-83
-
(2003)
Musc. Nerv
, vol.28
, pp. 472-483
-
-
Guyon, J.R.1
Kudryashova, E.2
Potts, A.3
Dalkilic, I.4
Brosius, M.A.5
-
74
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, et al. 1995. Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J. Biol. Chem. 270:31158-62
-
(1995)
J. Biol. Chem
, vol.270
, pp. 31158-31162
-
-
Sorimachi, H.1
Kinbara, K.2
Kimura, S.3
Takahashi, M.4
Ishiura, S.5
-
75
-
-
0035707910
-
The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
-
Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA. 2002. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomics 79:146-49
-
(2002)
Genomics
, vol.79
, pp. 146-149
-
-
Garvey, S.M.1
Rajan, C.2
Lerner, A.P.3
Frankel, W.N.4
Cox, G.A.5
-
76
-
-
1342267006
-
Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
-
Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. 2004. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 62:538-43
-
(2004)
Neurology
, vol.62
, pp. 538-543
-
-
Woodman, S.E.1
Sotgia, F.2
Galbiati, F.3
Minetti, C.4
Lisanti, M.P.5
-
77
-
-
9144245348
-
Variable reduction of caveolin-3 in patients with LGMD2B/MM
-
Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, et al. 2003. Variable reduction of caveolin-3 in patients with LGMD2B/MM. J. Neurol. 250:1431-38
-
(2003)
J. Neurol
, vol.250
, pp. 1431-1438
-
-
Walter, M.C.1
Braun, C.2
Vorgerd, M.3
Poppe, M.4
Thirion, C.5
-
78
-
-
27644438336
-
Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin
-
Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ. 2005. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin. J. Mol. Biol. 354:413-24
-
(2005)
J. Mol. Biol
, vol.354
, pp. 413-424
-
-
Kudryashova, E.1
Kudryashov, D.2
Kramerova, I.3
Spencer, M.J.4
-
79
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, et al. 2000. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum. Mol. Genet. 9:2141-47
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
Torian, U.M.4
Viles, K.D.5
-
80
-
-
1242320058
-
At the crossroads of myocardial signaling: The role of Z-discs in intracellular signaling and cardiac function
-
Pyle WG, Solaro RJ. 2004. At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function. Circ. Res. 94:296-305
-
(2004)
Circ. Res
, vol.94
, pp. 296-305
-
-
Pyle, W.G.1
Solaro, R.J.2
-
82
-
-
2342463022
-
BAF: Roles in chromatin, nuclear structure and retrovirus integration
-
Segura-Totten M, Wilson KL. 2004. BAF: roles in chromatin, nuclear structure and retrovirus integration. Trends Cell Biol. 14:261-66
-
(2004)
Trends Cell Biol
, vol.14
, pp. 261-266
-
-
Segura-Totten, M.1
Wilson, K.L.2
-
83
-
-
0037382801
-
Nuclear envelope proteins and neuromuscular diseases
-
Ostlund C, Worman HJ. 2003. Nuclear envelope proteins and neuromuscular diseases. Musc. Nerv. 27:393-406
-
(2003)
Musc. Nerv
, vol.27
, pp. 393-406
-
-
Ostlund, C.1
Worman, H.J.2
-
85
-
-
13944283353
-
A-type nuclear lamins, progerias and other degenerative disorders
-
Smith ED, Kudlow BA, Frock RL, Kennedy BK. 2005. A-type nuclear lamins, progerias and other degenerative disorders. Mech. Ageing Dev. 126:447-60
-
(2005)
Mech. Ageing Dev
, vol.126
, pp. 447-460
-
-
Smith, E.D.1
Kudlow, B.A.2
Frock, R.L.3
Kennedy, B.K.4
-
86
-
-
1542317663
-
Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
-
Lammerding J, Schulze PC, Takahashi T, Kozlov S, Sullivan T, et al. 2004. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J. Clin. Invest. 113:370-78
-
(2004)
J. Clin. Invest
, vol.113
, pp. 370-378
-
-
Lammerding, J.1
Schulze, P.C.2
Takahashi, T.3
Kozlov, S.4
Sullivan, T.5
-
87
-
-
24144481867
-
Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
-
Lammerding J, Hsiao J, Schulze PC, Kozlov S, Stewart CL, Lee RT. 2005. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J. Cell Biol. 170:781-91
-
(2005)
J. Cell Biol
, vol.170
, pp. 781-791
-
-
Lammerding, J.1
Hsiao, J.2
Schulze, P.C.3
Kozlov, S.4
Stewart, C.L.5
Lee, R.T.6
-
88
-
-
32644441628
-
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
-
Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, et al. 2006. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 129(4):996-1013
-
(2006)
Brain
, vol.129
, Issue.4
, pp. 996-1013
-
-
Bakay, M.1
Wang, Z.2
Melcon, G.3
Schiltz, L.4
Xuan, J.5
-
89
-
-
32144431571
-
Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration
-
Melcon G, Kozlov S, Cutler DA, Sullivan T, Hernandez L, et al. 2006. Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration. Hum. Mol. Genet. 15:637-51
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 637-651
-
-
Melcon, G.1
Kozlov, S.2
Cutler, D.A.3
Sullivan, T.4
Hernandez, L.5
-
90
-
-
32644447630
-
Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation
-
Frock RL, Kudlow BA, Evans AM, Jameson SA, Hauschka SD, Kennedy BK. 2006. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev. 20:486-500
-
(2006)
Genes Dev
, vol.20
, pp. 486-500
-
-
Frock, R.L.1
Kudlow, B.A.2
Evans, A.M.3
Jameson, S.A.4
Hauschka, S.D.5
Kennedy, B.K.6
-
91
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: A review
-
Machuca-Tzili L, Brook D, Hilton-Jones D. 2005. Clinical and molecular aspects of the myotonic dystrophies: a review. Musc. Nerv. 32:1-18
-
(2005)
Musc. Nerv
, vol.32
, pp. 1-18
-
-
Machuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
92
-
-
0034622926
-
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
-
Mankodi A, Logigian E, Callahan L, McClain C, White R, et al. 2000. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769-73
-
(2000)
Science
, vol.289
, pp. 1769-1773
-
-
Mankodi, A.1
Logigian, E.2
Callahan, L.3
McClain, C.4
White, R.5
-
93
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, et al. 2000. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19:4439-48
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
Urbinati, C.R.2
Teng-Umnuay, P.3
Stenberg, M.G.4
Byrne, B.J.5
-
94
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, et al. 2001. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Mol. Genet. 10:2165-70
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.P.3
Moxley, R.T.4
Sansone, V.5
-
95
-
-
4143120231
-
Muscleblind proteins regulate alternative splicing
-
Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA. 2004. Muscleblind proteins regulate alternative splicing. EMBO J. 23:3103-12
-
(2004)
EMBO J
, vol.23
, pp. 3103-3112
-
-
Ho, T.H.1
Charlet, B.N.2
Poulos, M.G.3
Singh, G.4
Swanson, M.S.5
Cooper, T.A.6
-
96
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, et al. 2003. A muscleblind knockout model for myotonic dystrophy. Science 302:1978-80
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
-
97
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, et al. 2001. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864-67
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
-
98
-
-
0036729874
-
Myotonic dystrophy: Clinical and molecular parallels between myotonic dystrophy type 1 and type 2
-
Ranum LP, Day JW. 2002. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Curr. Neurol. Neurosci. Rep. 2:465-70
-
(2002)
Curr. Neurol. Neurosci. Rep
, vol.2
, pp. 465-470
-
-
Ranum, L.P.1
Day, J.W.2
-
99
-
-
11144303455
-
Sudden cardiac death in myotonic dystrophy type 2
-
Schoser BG, Ricker K, Schneider-Gold C, Hengstenberg C, Durre J, et al. 2004. Sudden cardiac death in myotonic dystrophy type 2. Neurology 63:2402-4
-
(2004)
Neurology
, vol.63
, pp. 2402-2404
-
-
Schoser, B.G.1
Ricker, K.2
Schneider-Gold, C.3
Hengstenberg, C.4
Durre, J.5
-
100
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, et al. 2003. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60:657-64
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
-
101
-
-
1642377315
-
Molecular basis of facioscapulohumeral muscular dystrophy
-
Tupler R, Gabellini D. 2004. Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol. Life Sci. 61:557-66
-
(2004)
Cell Mol. Life Sci
, vol.61
, pp. 557-566
-
-
Tupler, R.1
Gabellini, D.2
-
102
-
-
1542750032
-
Facioscapulohumeral muscular dystrophy
-
Tawil R. 2004. Facioscapulohumeral muscular dystrophy. Curr. Neurol. Neurosci. Rep. 4:51-54
-
(2004)
Curr. Neurol. Neurosci. Rep
, vol.4
, pp. 51-54
-
-
Tawil, R.1
-
103
-
-
33644522383
-
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
-
Gabellini D, D'Antona G, Moggio M, Prelle A, Zecca C, et al. 2006. Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439:973-77
-
(2006)
Nature
, vol.439
, pp. 973-977
-
-
Gabellini, D.1
D'Antona, G.2
Moggio, M.3
Prelle, A.4
Zecca, C.5
-
104
-
-
9244232833
-
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35
-
van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, et al. 1996. Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum. Mol. Genet. 5:581-90
-
(1996)
Hum. Mol. Genet
, vol.5
, pp. 581-590
-
-
van Deutekom, J.C.1
Lemmers, R.J.2
Grewal, P.K.3
van Geel, M.4
Romberg, S.5
-
105
-
-
4544273261
-
Localization of 4q35.2 to the nuclear periphery: Is FSHD a nuclear envelope disease?
-
Masny PS, Bengtsson U, Chung SA, Martin JH, van Engelen B, et al. 2004. Localization of 4q35.2 to the nuclear periphery: Is FSHD a nuclear envelope disease? Hum. Mol. Genet. 13:1857-71
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 1857-1871
-
-
Masny, P.S.1
Bengtsson, U.2
Chung, S.A.3
Martin, J.H.4
van Engelen, B.5
-
106
-
-
0032871622
-
Myostatin and the control of skeletal muscle mass
-
Lee SJ, McPherron AC. 1999. Myostatin and the control of skeletal muscle mass. Curr. Opin. Genet. Dev. 9:604-7
-
(1999)
Curr. Opin. Genet. Dev
, vol.9
, pp. 604-607
-
-
Lee, S.J.1
McPherron, A.C.2
-
107
-
-
0035979253
-
Regulation of myostatin activity and muscle growth
-
Lee SJ, McPherron AC. 2001. Regulation of myostatin activity and muscle growth. Proc. Natl. Acad. Sci. USA 98:9306-11
-
(2001)
Proc. Natl. Acad. Sci. USA
, vol.98
, pp. 9306-9311
-
-
Lee, S.J.1
McPherron, A.C.2
-
108
-
-
0037462964
-
Inhibition of myostatin in adult mice increases skeletal muscle mass and strength
-
Whittemore LA, Song K, Li X, Aghajanian J, Davies M, et al. 2003. Inhibition of myostatin in adult mice increases skeletal muscle mass and strength. Biochem. Biophys. Res. Commun. 300:965-71
-
(2003)
Biochem. Biophys. Res. Commun
, vol.300
, pp. 965-971
-
-
Whittemore, L.A.1
Song, K.2
Li, X.3
Aghajanian, J.4
Davies, M.5
-
109
-
-
0037191752
-
Functional improvement of dystrophic muscle by myostatin blockade
-
Bogdanovich S, Krag TO, Barton ER, Morris LD, Whittemore LA, et al. 2002. Functional improvement of dystrophic muscle by myostatin blockade. Nature 420:418-21
-
(2002)
Nature
, vol.420
, pp. 418-421
-
-
Bogdanovich, S.1
Krag, T.O.2
Barton, E.R.3
Morris, L.D.4
Whittemore, L.A.5
-
110
-
-
16344375071
-
Myostatin propeptide-mediated amelioration of dystrophic pathophysiology
-
Bogdanovich S, Perkins KJ, Krag TO, Whittemore LA, Khurana TS. 2005. Myostatin propeptide-mediated amelioration of dystrophic pathophysiology. FASEB J. 19:543-49
-
(2005)
FASEB J
, vol.19
, pp. 543-549
-
-
Bogdanovich, S.1
Perkins, K.J.2
Krag, T.O.3
Whittemore, L.A.4
Khurana, T.S.5
-
111
-
-
0033526991
-
IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1
-
Musaro A, McCullagh KJ, Naya FJ, Olson EN, Rosenthal N. 1999. IGF-1 induces skeletal myocyte hypertrophy through calcineurin in association with GATA-2 and NF-ATc1. Nature 400:581-85
-
(1999)
Nature
, vol.400
, pp. 581-585
-
-
Musaro, A.1
McCullagh, K.J.2
Naya, F.J.3
Olson, E.N.4
Rosenthal, N.5
-
112
-
-
0036544519
-
Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice
-
Barton ER, Morris L, Musaro A, Rosenthal N, Sweeney HL. 2002. Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice. J. Cell Biol. 157:137-48
-
(2002)
J. Cell Biol
, vol.157
, pp. 137-148
-
-
Barton, E.R.1
Morris, L.2
Musaro, A.3
Rosenthal, N.4
Sweeney, H.L.5
-
113
-
-
0037014652
-
Different roles of the IGF-I Ec peptide (MGF) and mature IGF-I in myoblast proliferation and differentiation
-
Yang SY, Goldspink G. 2002. Different roles of the IGF-I Ec peptide (MGF) and mature IGF-I in myoblast proliferation and differentiation. FEBS Lett. 522:156-60
-
(2002)
FEBS Lett
, vol.522
, pp. 156-160
-
-
Yang, S.Y.1
Goldspink, G.2
|