-
1
-
-
53549117700
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Curr Opin Neurol. 2008;21:585-589
-
(2008)
Curr Opin Neurol.
, vol.21
, pp. 585-589
-
-
Selcen, D.1
-
2
-
-
0742305818
-
Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients
-
Selcen D, Ohno K, Engel AG. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain. 2004;127:439-451
-
(2004)
Brain
, vol.127
, pp. 439-451
-
-
Selcen, D.1
Ohno, K.2
Engel, A.G.3
-
3
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998;19:402-403
-
(1998)
Nat Genet.
, vol.19
, pp. 402-403
-
-
Goldfarb, L.G.1
Park, K.Y.2
Cervenakova, L.3
Gorokhova, S.4
Lee, H.S.5
Vasconcelos, O.6
-
4
-
-
1942473823
-
Mutations in myotilin cause myofibrillar myopathy
-
Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004;62:1363-1371
-
(2004)
Neurology
, vol.62
, pp. 1363-1371
-
-
Selcen, D.1
Engel, A.G.2
-
5
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998;20:92-95
-
(1998)
Nat Genet.
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prevost, M.C.5
Faure, A.6
-
6
-
-
13144260646
-
Mutations in ZASP define a novel formof muscular dystrophy in humans
-
Selcen D, Engel AG. Mutations in ZASP define a novel formof muscular dystrophy in humans. Ann Neurol. 2005;57:269-276
-
(2005)
Ann Neurol.
, vol.57
, pp. 269-276
-
-
Selcen, D.1
Engel, A.G.2
-
7
-
-
22544478749
-
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
-
Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005;77:297-304.
-
(2005)
Am J Hum Genet.
, vol.77
, pp. 297-304
-
-
Vorgerd, M.1
Van Der Ven, P.F.2
Bruchertseifer, V.3
Lowe, T.4
Kley, R.A.5
Schroder, R.6
-
8
-
-
38749136299
-
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1
-
Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008;82:208-213
-
(2008)
Am J Hum Genet.
, vol.82
, pp. 208-213
-
-
Quinzii, C.M.1
Vu, T.H.2
Min, K.C.3
Tanji, K.4
Barral, S.5
Grewal, R.P.6
-
9
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000;9:2141-2147
-
(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
Dancel, R.6
-
10
-
-
25144513024
-
The palladin/myotilin/myopalladin family of actin-associated scaffolds
-
Otey CA, Rachlin A, Moza M, Arneman D, Carpen O. The palladin/myotilin/ myopalladin family of actin-associated scaffolds. Int Rev Cytol. 2005;246:31-58.
-
(2005)
Int Rev Cytol.
, vol.246
, pp. 31-58
-
-
Otey, C.A.1
Rachlin, A.2
Moza, M.3
Arneman, D.4
Carpen, O.5
-
11
-
-
0344759163
-
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
-
Salmikangas P, Mykkanen OM, Gronholm M, Heiska L, Kere J, Carpen O. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet. 1999;8:1329-1336
-
(1999)
Hum Mol Genet.
, vol.8
, pp. 1329-1336
-
-
Salmikangas, P.1
Mykkanen, O.M.2
Gronholm, M.3
Heiska, L.4
Kere, J.5
Carpen, O.6
-
12
-
-
0037439275
-
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
-
Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, et al. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet. 2003;12:189-203.
-
(2003)
Hum Mol Genet.
, vol.12
, pp. 189-203
-
-
Salmikangas, P.1
Van Der Ven, P.F.2
Lalowski, M.3
Taivainen, A.4
Zhao, F.5
Suila, H.6
-
13
-
-
0034675887
-
Indications for a novel muscular dystrophy pathway. Gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin
-
van der Ven PF, Wiesner S, Salmikangas P, Auerbach D, Himmel M, Kempa S, et al. Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol. 2000; 151:235-248
-
(2000)
J Cell Biol.
, vol.151
, pp. 235-248
-
-
Van Der Ven, P.F.1
Wiesner, S.2
Salmikangas, P.3
Auerbach, D.4
Himmel, M.5
Kempa, S.6
-
14
-
-
24944550989
-
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins
-
Gontier Y, Taivainen A, Fontao L, Sonnenberg A, van der Flier A, Carpen O, et al. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. J Cell Sci. 2005;118:3739-3749
-
(2005)
J Cell Sci.
, vol.118
, pp. 3739-3749
-
-
Gontier, Y.1
Taivainen, A.2
Fontao, L.3
Sonnenberg, A.4
Van Der Flier, A.5
Carpen, O.6
-
15
-
-
1242320058
-
At the crossroads of myocardial signaling: The role of Z-discs in intracellular signaling and cardiac function
-
Pyle WG, Solaro RJ. At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function. Circ Res. 2004;94:296-305.
-
(2004)
Circ Res.
, vol.94
, pp. 296-305
-
-
Pyle, W.G.1
Solaro, R.J.2
-
16
-
-
33845801599
-
Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice
-
Moza M, Mologni L, Trokovic R, Faulkner G, Partanen J, Carpen O. Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol. 2007;27:244-252
-
(2007)
Mol Cell Biol.
, vol.27
, pp. 244-252
-
-
Moza, M.1
Mologni, L.2
Trokovic, R.3
Faulkner, G.4
Partanen, J.5
Carpen, O.6
-
17
-
-
0030741552
-
Contractile studies of single human skeletal muscle fibers: A comparison of different muscles, permeabilization procedures, and storage techniques
-
Frontera WR, Larsson L. Contractile studies of single human skeletal muscle fibers: A comparison of different muscles, permeabilization procedures, and storage techniques. Muscle Nerve. 1997;20:948-952
-
(1997)
Muscle Nerve
, vol.20
, pp. 948-952
-
-
Frontera, W.R.1
Larsson, L.2
-
18
-
-
0018333174
-
Sarcomere length-tension relations of frog skinned muscle fibres during calcium activation at short lengths
-
Moss RL. Sarcomere length-tension relations of frog skinned muscle fibres during calcium activation at short lengths. J Physiol. 1979;292:177-192
-
(1979)
J Physiol.
, vol.292
, pp. 177-192
-
-
Moss, R.L.1
-
19
-
-
0027763495
-
Maximum velocity of shortening in relation to myosin isoform composition in single fibres from human skeletal muscles
-
Larsson L, Moss RL. Maximum velocity of shortening in relation to myosin isoform composition in single fibres from human skeletal muscles. J Physiol. 1993;472:595-614.
-
(1993)
J Physiol.
, vol.472
, pp. 595-614
-
-
Larsson, L.1
Moss, R.L.2
-
20
-
-
2042451727
-
Rate of force generation in muscle: Correlation with actomyosin ATPase activity in solution
-
Brenner B, Eisenberg E. Rate of force generation in muscle: correlation with actomyosin ATPase activity in solution. Proc Natl Acad Sci U S A. 1986;83:3542-3546
-
(1986)
Proc Natl Acad Sci U S A.
, vol.83
, pp. 3542-3546
-
-
Brenner, B.1
Eisenberg, E.2
-
21
-
-
0031920485
-
Calcium regulation of tension redevelopment kinetics with 2-deoxy-ATP or low [ATP] in rabbit skeletal muscle
-
Regnier M, Martyn DA, Chase PB. Calcium regulation of tension redevelopment kinetics with 2-deoxy-ATP or low [ATP] in rabbit skeletal muscle. Biophys J. 1998;74:2005-2015
-
(1998)
Biophys J.
, vol.74
, pp. 2005-2015
-
-
Regnier, M.1
Martyn, D.A.2
Chase, P.B.3
-
22
-
-
0024201809
-
Computer programs for calculating total from specified free or free from specified total ionic concentrations in aqueous solutions containing multiple metals and ligands
-
Fabiato A. Computer programs for calculating total from specified free or free from specified total ionic concentrations in aqueous solutions containing multiple metals and ligands. Methods Enzymol. 1988;157:378-417.
-
(1988)
Methods Enzymol.
, vol.157
, pp. 378-417
-
-
Fabiato, A.1
-
23
-
-
0032434538
-
Characterization of lethal Drosophila melanogaster alpha-actinin mutants
-
Fyrberg C, Ketchum A, Ball E, Fyrberg E. Characterization of lethal Drosophila melanogaster alpha-actinin mutants. Biochem Genet. 1998;36:299-310.
-
(1998)
Biochem Genet.
, vol.36
, pp. 299-310
-
-
Fyrberg, C.1
Ketchum, A.2
Ball, E.3
Fyrberg, E.4
-
24
-
-
84924110084
-
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
-
Zhou Q, Chu PH, Huang C, Cheng CF, Martone ME, Knoll G, et al. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol. 2001;155:605-612
-
(2001)
J Cell Biol.
, vol.155
, pp. 605-612
-
-
Zhou, Q.1
Chu, P.H.2
Huang, C.3
Cheng, C.F.4
Martone, M.E.5
Knoll, G.6
-
25
-
-
33744494538
-
The sarcomeric Z-disc: A nodal point in signalling and disease
-
Frank D, Kuhn C, Katus HA, Frey N. The sarcomeric Z-disc: A nodal point in signalling and disease. J Mol Med. 2006;84:446-468
-
(2006)
J Mol Med.
, vol.84
, pp. 446-468
-
-
Frank, D.1
Kuhn, C.2
Katus, H.A.3
Frey, N.4
-
26
-
-
0035897410
-
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies
-
Bang ML, Mudry RE, McElhinny AS, Trombitas K, Geach AJ, Yamasaki R, et al. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol. 2001;153:413-427
-
(2001)
J Cell Biol.
, vol.153
, pp. 413-427
-
-
Bang, M.L.1
Mudry, R.E.2
McElhinny, A.S.3
Trombitas, K.4
Geach, A.J.5
Yamasaki, R.6
-
27
-
-
0034776199
-
Telethonin and other new proteins of the Z-disc of skeletal muscle
-
Faulkner G, Lanfranchi G, Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life. 2001;51:275-282
-
(2001)
IUBMB Life
, vol.51
, pp. 275-282
-
-
Faulkner, G.1
Lanfranchi, G.2
Valle, G.3
-
28
-
-
0037184992
-
The cardiacmechanical stretchsensor machinery involves aZdisc complexthat isdefective ina subsetof human dilated cardiomyopathy
-
Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen- Schmidt I,BangML, et al.The cardiacmechanical stretchsensor machinery involves aZdisc complexthat isdefective ina subsetof human dilated cardiomyopathy. Cell. 2002;111:943-955
-
(2002)
Cell
, vol.111
, pp. 943-955
-
-
Knoll, R.1
Hoshijima, M.2
Hoffman, H.M.3
Person, V.4
Lorenzen- Schmidt, I.5
Bang, M.L.6
-
29
-
-
26844550733
-
Muscle LIM protein plays both structural and functional roles in skeletal muscle
-
Barash IA, Mathew L, Lahey M, Greaser ML, Lieber RL. Muscle LIM protein plays both structural and functional roles in skeletal muscle. Am J Physiol Cell Physiol. 2005;289: C1312-20.
-
(2005)
Am J Physiol Cell Physiol.
, vol.289
-
-
Barash, I.A.1
Mathew, L.2
Lahey, M.3
Greaser, M.L.4
Lieber, R.L.5
-
30
-
-
0030879081
-
Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle
-
Li Z, Mericskay M, Agbulut O, Butler-Browne G, Carlsson L, Thornell LE, et al. Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle. J Cell Biol. 1997;139:129-144
-
(1997)
J Cell Biol.
, vol.139
, pp. 129-144
-
-
Li, Z.1
Mericskay, M.2
Agbulut, O.3
Butler-Browne, G.4
Carlsson, L.5
Thornell, L.E.6
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