-
1
-
-
84905924341
-
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
-
Agrawal, P. B. , Pierson, C. R. , Joshi, M. , Liu, X. , Ravenscroft, G. , Moghadaszadeh, B. , Talabere, T. , Viola, M. , Swanson, L. C. , Halilog? lu, G. et al. (2014). SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am. J. Hum. Genet. 95, 218-226.
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 218-226
-
-
Agrawal, P.B.1
Pierson, C.R.2
Joshi, M.3
Liu, X.4
Ravenscroft, G.5
Moghadaszadeh, B.6
Talabere, T.7
Viola, M.8
Swanson, L.C.9
Haliloglu, G.10
-
2
-
-
84863880791
-
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
-
Al-Qusairi, L. and Laporte, J. (2011). T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases. Skelet. Muscle 1, 26.
-
(2011)
Skelet. Muscle
, vol.1
, pp. 26
-
-
Al-Qusairi, L.1
Laporte, J.2
-
3
-
-
73249136944
-
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
-
Al-Qusairi, L. , Weiss, N. , Toussaint, A. , Berbey, C. , Messaddeq, N. , Kretz, C. , Sanoudou, D. , Beggs, A. H. , Allard, B. , Mandel, J.-L. et al. (2009). T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc. Natl. Acad. Sci. USA 106, 18763-18768.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 18763-18768
-
-
Al-Qusairi, L.1
Weiss, N.2
Toussaint, A.3
Berbey, C.4
Messaddeq, N.5
Kretz, C.6
Sanoudou, D.7
Beggs, A.H.8
Allard, B.9
Mandel, J.-L.10
-
4
-
-
84862271531
-
Increased resting intracellular calcium modulates NFkappaB-dependent inducible nitric-oxide synthase gene expression in dystrophic mdx skeletal myotubes
-
Altamirano, F. , Lopez, J. R. , Henriquez, C. , Molinski, T. , Allen, P. D. and Jaimovich, E. (2012). Increased resting intracellular calcium modulates NFkappaB-dependent inducible nitric-oxide synthase gene expression in dystrophic mdx skeletal myotubes. J. Biol. Chem. 287, 20876-20887.
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 20876-20887
-
-
Altamirano, F.1
Lopez, J.R.2
Henriquez, C.3
Molinski, T.4
Allen, P.D.5
Jaimovich, E.6
-
5
-
-
84922708088
-
A micropeptide encoded by a putative long noncoding RNA regulates muscle performance
-
Anderson, D. M. , Anderson, K. M. , Chang, C.-L. , Makarewich, C. A. , Nelson, B. R. , McAnally, J. R. , Kasaragod, P. , Shelton, J. M. , Liou, J. , Bassel-Duby, R. et al. (2015). A micropeptide encoded by a putative long noncoding RNA regulates muscle performance. Cell 160, 595-606.
-
(2015)
Cell
, vol.160
, pp. 595-606
-
-
Anderson, D.M.1
Anderson, K.M.2
Chang, C.-L.3
Makarewich, C.A.4
Nelson, B.R.5
McAnally, J.R.6
Kasaragod, P.7
Shelton, J.M.8
Liou, J.9
Bassel-Duby, R.10
-
7
-
-
0038031808
-
2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban
-
2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban. Proc. Natl. Acad. Sci. USA 100, 5040-5045.
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 5040-5045
-
-
Asahi, M.1
Sugita, Y.2
Kurzydlowski, K.3
De Leon, S.4
Tada, M.5
Toyoshima, C.6
MacLennan, D.H.7
-
9
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
Bitoun, M. , Maugenre, S. , Jeannet, P.-Y. , Lacène, E. , Ferrer, X. , Laforet, P. , Martin, J.-J. , Laporte, J. , Lochmüller, H. , Beggs, A. H. et al. (2005). Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat. Genet. 37, 1207-1209.
-
(2005)
Nat. Genet.
, vol.37
, pp. 1207-1209
-
-
Bitoun, M.1
Maugenre, S.2
Jeannet, P.-Y.3
Lacène, E.4
Ferrer, X.5
Laforet, P.6
Martin, J.-J.7
Laporte, J.8
Lochmüller, H.9
Beggs, A.H.10
-
10
-
-
84859951558
-
Rapid determination of myosin heavy chain expression in rat, mouse, and human skeletal muscle using multicolor immunofluorescence analysis
-
Bloemberg, D. and Quadrilatero, J. (2012). Rapid determination of myosin heavy chain expression in rat, mouse, and human skeletal muscle using multicolor immunofluorescence analysis. PLoS ONE 7, e35273.
-
(2012)
PLoS ONE
, vol.7
, pp. e35273
-
-
Bloemberg, D.1
Quadrilatero, J.2
-
11
-
-
84892442490
-
Autophagy is altered in skeletal and cardiac muscle of spontaneously hypertensive rats
-
Bloemberg, D. , McDonald, E. , Dulay, D. and Quadrilatero, J. (2014). Autophagy is altered in skeletal and cardiac muscle of spontaneously hypertensive rats. Acta Physiol 210, 381-391.
-
(2014)
Acta Physiol
, vol.210
, pp. 381-391
-
-
Bloemberg, D.1
McDonald, E.2
Dulay, D.3
Quadrilatero, J.4
-
12
-
-
84921389043
-
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
-
Bohm, J. , Biancalana, V. , Malfatti, E. , Dondaine, N. , Koch, C. , Vasli, N. , Kress, W. , Strittmatter, M. , Taratuto, A. L. , Gonorazky, H. et al. (2014). Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain 137, 3160-3170.
-
(2014)
Brain
, vol.137
, pp. 3160-3170
-
-
Bohm, J.1
Biancalana, V.2
Malfatti, E.3
Dondaine, N.4
Koch, C.5
Vasli N. KressW.6
Strittmatter, M.7
Taratuto, A.L.8
Gonorazky, H.9
-
13
-
-
84857839750
-
Genetic biomarkers for ALS disease in transgenic SOD1 (G93A) mice
-
Calvo, A. C. , Manzano, R. , Atencia-Cibreiro, G. , Oliván, S. , Muñoz, M. J. , Zaragoza, P. , Cordero-Vázquez, P. , Esteban-Pérez, J. , García-Redondo, A. and Osta, R. (2012). Genetic biomarkers for ALS disease in transgenic SOD1 (G93A) mice. PLoS ONE 7, e32632.
-
(2012)
PLoS ONE
, vol.7
, pp. e32632
-
-
Calvo, A.C.1
Manzano, R.2
Atencia-Cibreiro, G.3
Oliván, S.4
Muñoz, M.J.5
Zaragoza, P.6
Cordero-Vázquez, P.7
Esteban-Pérez, J.8
García-Redondo, A.9
Osta, R.10
-
14
-
-
84886409449
-
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
-
Ceyhan-Birsoy, O. , Agrawal, P. B. , Hidalgo, C. , Schmitz-Abe, K. , DeChene, E. T. , Swanson, L. C. , Soemedi, R. , Vasli, N. , Iannaccone, S. T. , Shieh, P. B. et al. (2013). Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 81, 1205-1214.
-
(2013)
Neurology
, vol.81
, pp. 1205-1214
-
-
Ceyhan-Birsoy, O.1
Agrawal, P.B.2
Hidalgo, C.3
Schmitz-Abe, K.4
DeChene, E.T.5
Swanson, L.C.6
Soemedi, R.7
Vasli, N.8
Iannaccone, S.T.9
Shieh, P.B.10
-
15
-
-
0347989458
-
Cellular and molecular regulation of muscle regeneration
-
Charge, S. B. P. and Rudnicki, M. A. (2004). Cellular and molecular regulation of muscle regeneration. Physiol. Rev. 84, 209-238.
-
(2004)
Physiol. Rev.
, vol.84
, pp. 209-238
-
-
Charge, S.B.P.1
Rudnicki, M.A.2
-
16
-
-
79959246454
-
Increased expression of wildtype or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness
-
Cowling, B. S. , Toussaint, A. , Amoasii, L. , Koebel, P. , Ferry, A. , Davignon, L. , Nishino, I. , Mandel, J.-L. and Laporte, J. (2011). Increased expression of wildtype or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am. J. Pathol. 178, 2224-2235.
-
(2011)
Am. J. Pathol.
, vol.178
, pp. 2224-2235
-
-
Cowling, B.S.1
Toussaint, A.2
Amoasii, L.3
Koebel, P.4
Ferry, A.5
Davignon, L.6
Nishino, I.7
Mandel, J.-L.8
Laporte, J.9
-
17
-
-
84896772002
-
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
-
Cowling, B. S. , Chevremont, T. , Prokic, I. , Kretz, C. , Ferry, A. , Coirault, C. , Koutsopoulos, O. , Laugel, V. , Romero, N. B. and Laporte, J. (2014). Reducing dynamin 2 expression rescues X-linked centronuclear myopathy. J. Clin. Invest. 124, 1350-1363.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 1350-1363
-
-
Cowling, B.S.1
Chevremont, T.2
Prokic, I.3
Kretz, C.4
Ferry, A.5
Coirault, C.6
Koutsopoulos, O.7
Laugel, V.8
Romero, N.B.9
Laporte, J.10
-
18
-
-
84896769923
-
Dynamin 2 the rescue for centronuclear myopathy
-
Demonbreun, A. R. and McNally, E. M. (2014). Dynamin 2 the rescue for centronuclear myopathy. J. Clin. Invest. 124, 976-978.
-
(2014)
J. Clin. Invest.
, vol.124
, pp. 976-978
-
-
Demonbreun, A.R.1
McNally, E.M.2
-
19
-
-
33748950069
-
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
-
DeWitt, M. M. , MacLeod, H. M. , Soliven, B. and McNally, E. M. (2006). Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48, 1396-1398.
-
(2006)
J. Am. Coll. Cardiol.
, vol.48
, pp. 1396-1398
-
-
DeWitt, M.M.1
MacLeod, H.M.2
Soliven, B.3
McNally, E.M.4
-
20
-
-
0026038987
-
Fiber regeneration is not persistent in dystrophic (MDX) mouse skeletal muscle
-
DiMario, J. X. , Uzman, A. and Strohman, R. C. (1991). Fiber regeneration is not persistent in dystrophic (MDX) mouse skeletal muscle. Dev. Biol. 148, 314-321.
-
(1991)
Dev. Biol.
, vol.148
, pp. 314-321
-
-
DiMario, J.X.1
Uzman, A.2
Strohman, R.C.3
-
21
-
-
84919781500
-
Triadopathies: An emerging class of skeletal muscle diseases
-
Dowling, J. J. , Lawlor, M. W. and Dirksen, R. T. (2014). Triadopathies: An emerging class of skeletal muscle diseases. Neurotherapeutics 11, 773-785.
-
(2014)
Neurotherapeutics
, vol.11
, pp. 773-785
-
-
Dowling, J.J.1
Lawlor, M.W.2
Dirksen, R.T.3
-
23
-
-
36849021992
-
Muscle metabolic, SR Ca(2+) -cycling responses to prolonged cycling, with and without glucose supplementation
-
Duhamel, T. A. , Green, H. J. , Stewart, R. D. , Foley, K. P. , Smith, I. C. andOuyang, J. (2007). Muscle metabolic, SR Ca(2+) -cycling responses to prolonged cycling, with and without glucose supplementation. J. Appl. Physiol. 103, 1986-1998.
-
(2007)
J. Appl. Physiol.
, vol.103
, pp. 1986-1998
-
-
Duhamel, T.A.1
Green, H.J.2
Stewart, R.D.3
Foley, K.P.4
Smith, I.C.5
Ouyang, J.6
-
24
-
-
84892650115
-
Co-expression of SERCA isoforms, phospholamban and sarcolipin in human skeletal muscle fibers
-
Fajardo, V. A. , Bombardier, E. , Vigna, C. , Devji, T. , Bloemberg, D. , Gamu, D. , Gramolini, A. O. , Quadrilatero, J. and Tupling, A. R. (2013). Co-expression of SERCA isoforms, phospholamban and sarcolipin in human skeletal muscle fibers. PLoS ONE 8, e84304.
-
(2013)
PLoS ONE
, vol.8
, pp. e84304
-
-
Fajardo, V.A.1
Bombardier, E.2
Vigna, C.3
Devji, T.4
Bloemberg, D.5
Gamu, D.6
Gramolini, A.O.7
Quadrilatero, J.8
Tupling, A.R.9
-
25
-
-
84891717595
-
Nuclear positioning in muscle development and disease
-
Folker, E. S. and Baylies, M. K. (2013). Nuclear positioning in muscle development and disease. Front. Physiol. 4, 363.
-
(2013)
Front. Physiol.
, vol.4
, pp. 363
-
-
Folker, E.S.1
Baylies, M.K.2
-
26
-
-
84925400368
-
The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy
-
Gal, A. , Inczedy-Farkas, G. , Pal, E. , Remenyi, V. , Bereznai, B. , Geller, L. , Szelid, Z. , Merkely, B. and Molnar, M. J. (2015). The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy. Clin. Neuropathol 34, 89-95.
-
(2015)
Clin. Neuropathol
, vol.34
, pp. 89-95
-
-
Gal, A.1
Inczedy-Farkas, G.2
Pal, E.3
Remenyi, V.4
Bereznai, B.5
Geller, L.6
Szelid, Z.7
Merkely, B.8
Molnar, M.J.9
-
27
-
-
84859910158
-
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy
-
Gehrig, S. M. , van der Poel, C. , Sayer, T. A. , Schertzer, J. D. , Henstridge, D. C. , Church, J. E. , Lamon, S. , Russell, A. P. , Davies, K. E. , Febbraio, M. A. et al. (2012). Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. Nature 484, 394-398.
-
(2012)
Nature
, vol.484
, pp. 394-398
-
-
Gehrig, S.M.1
Van Der Poel, C.2
Sayer, T.A.3
Schertzer, J.D.4
Henstridge, D.C.5
Church, J.E.6
Lamon, S.7
Russell, A.P.8
Davies, K.E.9
Febbraio, M.A.10
-
28
-
-
84892429399
-
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
-
Gibbs, E. M. , Davidson, A. E. , Telfer, W. R. , Feldman, E. L. and Dowling, J. J. (2014). The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish. Dis. Model. Mech. 7, 157-161.
-
(2014)
Dis. Model. Mech.
, vol.7
, pp. 157-161
-
-
Gibbs, E.M.1
Davidson, A.E.2
Telfer, W.R.3
Feldman, E.L.4
Dowling, J.J.5
-
29
-
-
79952209778
-
Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle
-
Goonasekera, S. A. , Lam, C. K. , Millay, D. P. , Sargent, M. A. , Hajjar, R. J. , Kranias, E. G. and Molkentin, J. D. (2011). Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle. J. Clin. Invest. 121, 1044-1052.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 1044-1052
-
-
Goonasekera, S.A.1
Lam, C.K.2
Millay, D.P.3
Sargent, M.A.4
Hajjar, R.J.5
Kranias, E.G.6
Molkentin, J.D.7
-
30
-
-
84875448440
-
Sarco(endo) plasmic reticulum calcium ATPase (SERCA) inhibition by sarcolipin is encoded in its luminal tail
-
Gorski, P. A. , Glaves, J. P. , Vangheluwe, P. and Young, H. S. (2013). Sarco(endo) plasmic reticulum calcium ATPase (SERCA) inhibition by sarcolipin is encoded in its luminal tail. J. Biol. Chem. 288, 8456-8467.
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 8456-8467
-
-
Gorski, P.A.1
Glaves, J.P.2
Vangheluwe, P.3
Young, H.S.4
-
31
-
-
0030848338
-
Skeletal and cardiacmyopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy
-
Grady, R. M. , Teng, H. , Nichol, M. C. , Cunningham, J. C. , Wilkinson, R. S. and Sanes, J. R. (1997). Skeletal and cardiacmyopathies in mice lacking utrophin and dystrophin: A model for Duchenne muscular dystrophy. Cell 90, 729-738.
-
(1997)
Cell
, vol.90
, pp. 729-738
-
-
Grady, R.M.1
Teng, H.2
Nichol, M.C.3
Cunningham, J.C.4
Wilkinson, R.S.5
Sanes, J.R.6
-
32
-
-
31944450889
-
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy
-
Haghighi, K. , Kolokathis, F. , Gramolini, A. O. , Waggoner, J. R. , Pater, L. , Lynch, R. A. , Fan, G.-C. , Tsiapras, D. , Parekh, R. R. , Dorn, G. W. , II et al. (2006). A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. USA 103, 1388-1393.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 1388-1393
-
-
Haghighi, K.1
Kolokathis, F.2
Gramolini, A.O.3
Waggoner, J.R.4
Pater, L.5
Lynch, R.A.6
Fan, G.-C.7
Tsiapras, D.8
Parekh, R.R.9
Dorn, G.W.10
-
33
-
-
79960003546
-
Clinical trials update AHA congress 2010
-
Horowitz, J. D. , Rosenson, R. S. , McMurray, J. J. V. , Marx, N. and Remme, W. J. (2011). Clinical Trials Update AHA Congress 2010. Cardiovasc. Drugs Ther. 25, 69-76.
-
(2011)
Cardiovasc. Drugs Ther.
, vol.25
, pp. 69-76
-
-
Horowitz, J.D.1
Rosenson, R.S.2
McMurray, J.J.V.3
Marx, N.4
Remme, W.J.5
-
34
-
-
79961032369
-
2+-ATPase in patients with advanced heart failure
-
2+-ATPase in patients with advanced heart failure. Circulation 124, 304-313.
-
(2011)
Circulation
, vol.124
, pp. 304-313
-
-
Jessup, M.1
Greenberg, B.2
Mancini, D.3
Cappola, T.4
Pauly, D.F.5
Jaski, B.6
Yaroshinsky, A.7
Zsebo, K.M.8
Dittrich, H.9
Hajjar, R.J.10
-
35
-
-
84921323471
-
Pathogenic mechanisms in centronuclear myopathies
-
Jungbluth, H. and Gautel, M. (2014). Pathogenic mechanisms in centronuclear myopathies. Front. Aging Neurosci. 6, 339.
-
(2014)
Front. Aging Neurosci.
, vol.6
, pp. 339
-
-
Jungbluth, H.1
Gautel, M.2
-
36
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth, H. , Zhou, H. , Sewry, C. A. , Robb, S. , Treves, S. , Bitoun, M. , Guicheney, P. , Buj-Bello, A. , Bönnemann, C. and Muntoni, F. (2007). Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul. Disord. 17, 338-345.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
Robb, S.4
Treves, S.5
Bitoun, M.6
Guicheney, P.7
Buj-Bello, A.8
Bönnemann, C.9
Muntoni, F.10
-
37
-
-
54849411236
-
Centronuclear (myotubular) myopathy
-
Jungbluth, H. , Wallgren-Pettersson, C. and Laporte, J. (2008). Centronuclear (myotubular) myopathy. Orphanet. J. Rare Dis. 3, 26.
-
(2008)
Orphanet. J. Rare Dis.
, vol.3
, pp. 26
-
-
Jungbluth, H.1
Wallgren-Pettersson, C.2
Laporte, J.3
-
38
-
-
0027960578
-
In vivo regulation of the mouse beta myosin heavy chain gene
-
Knotts, S. , Rindt, H. , Neumann, J. and Robbins, J. (1994). In vivo regulation of the mouse beta myosin heavy chain gene. J. Biol. Chem. 269, 31275-31282.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 31275-31282
-
-
Knotts, S.1
Rindt, H.2
Neumann, J.3
Robbins, J.4
-
39
-
-
0033837837
-
Vacuole formation in fatigued skeletal muscle fibres from frog and mouse: Effects of extracellular lactate
-
Lännergren, J. , Bruton, J. D. and Westerblad, H. (2000). Vacuole formation in fatigued skeletal muscle fibres from frog and mouse: Effects of extracellular lactate. J. Physiol. 526, 597-611.
-
(2000)
J. Physiol.
, vol.526
, pp. 597-611
-
-
Lännergren, J.1
Bruton, J.D.2
Westerblad, H.3
-
40
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte, J. , Hu, L. J. , Kretz, C. , Mandel, J.-L. , Kioschis, P. , Coy, J. F. , Klauck, S. M. , Poustka, A. and Dahl, N. (1996). A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet. 13, 175-182.
-
(1996)
Nat. Genet.
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
Mandel, J.-L.4
Kioschis, P.5
Coy, J.F.6
Klauck, S.M.7
Poustka, A.8
Dahl, N.9
-
41
-
-
79960981578
-
Mice lacking microRNA 133a develop dynamin 2-dependent centronuclear myopathy
-
Liu, N. , Bezprozvannaya, S. , Shelton, J. M. , Frisard, M. I. , Hulver, M. W. , McMillan, R. P. , Wu, Y. , Voelker, K. A. , Grange, R. W. , Richardson, J. A. et al. (2011). Mice lacking microRNA 133a develop dynamin 2-dependent centronuclear myopathy. J. Clin. Invest. 121, 3258-3268.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 3258-3268
-
-
Liu, N.1
Bezprozvannaya, S.2
Shelton, J.M.3
Frisard, M.I.4
Hulver, M.W.5
McMillan, R.P.6
Wu, Y.7
Voelker, K.A.8
Grange, R.W.9
Richardson, J.A.10
-
42
-
-
0034720488
-
Monospecific antibodies against the three mammalian fast limb myosin heavy chains
-
Lucas, C. A. , Kang, L. H. D. and Hoh, J. F. Y. (2000). Monospecific antibodies against the three mammalian fast limb myosin heavy chains. Biochem. Biophys. Res. Commun. 272, 303-308.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.272
, pp. 303-308
-
-
Lucas, C.A.1
Kang, L.H.D.2
Hoh, J.F.Y.3
-
43
-
-
0038464639
-
Phospholamban: A crucial regulator of cardiac contractility
-
MacLennan, D. H. and Kranias, E. G. (2003). Phospholamban: A crucial regulator of cardiac contractility. Nat. Rev. Mol. Cell Biol. 4, 566-577.
-
(2003)
Nat. Rev. Mol. Cell Biol.
, vol.4
, pp. 566-577
-
-
MacLennan, D.H.1
Kranias, E.G.2
-
44
-
-
84930836359
-
SERCA1 overexpression minimizes skeletal muscle damage in dystrophic mouse models
-
Mazala, D. A. G. , Pratt, S. J. P. , Chen, D. , Molkentin, J. D. , Lovering, R. M. and Chin, E. R. (2015). SERCA1 overexpression minimizes skeletal muscle damage in dystrophic mouse models. Am. J. Physiol. Cell Physiol. 308, C699-C709.
-
(2015)
Am. J. Physiol. Cell Physiol.
, vol.308
, pp. C699-C709
-
-
Mazala, D.A.G.1
Pratt, S.J.P.2
Chen, D.3
Molkentin, J.D.4
Lovering, R.M.5
Chin, E.R.6
-
45
-
-
79954474892
-
Differential apoptosis-related protein expression, mitochondrial properties, proteolytic enzyme activity, and DNA fragmentation between skeletal muscles
-
McMillan, E. M. and Quadrilatero, J. (2011). Differential apoptosis-related protein expression, mitochondrial properties, proteolytic enzyme activity, and DNA fragmentation between skeletal muscles. Am. J. Physiol. Regul. Integr. Comp. Physiol. 300, R531-R543.
-
(2011)
Am. J. Physiol. Regul. Integr. Comp. Physiol.
, vol.300
, pp. R531-R543
-
-
McMillan, E.M.1
Quadrilatero, J.2
-
46
-
-
73149091433
-
Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism
-
Millay, D. P. , Goonasekera, S. A. , Sargent, M. A. , Maillet, M. , Aronow, B. J. and Molkentin, J. D. (2009). Calcium influx is sufficient to induce muscular dystrophy through a TRPC-dependent mechanism. Proc. Natl. Acad. Sci. USA 106, 19023-19028.
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 19023-19028
-
-
Millay, D.P.1
Goonasekera, S.A.2
Sargent, M.A.3
Maillet, M.4
Aronow, B.J.5
Molkentin, J.D.6
-
47
-
-
0344406208
-
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy
-
Minamisawa, S. , Sato, Y. , Tatsuguchi, Y. , Fujino, T. , Imamura, S.-i. , Uetsuka, Y. , Nakazawa, M. and Matsuoka, R. (2003). Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 304, 1-4.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.304
, pp. 1-4
-
-
Minamisawa, S.1
Sato, Y.2
Tatsuguchi, Y.3
Fujino, T.4
Imamura, S.-I.5
Uetsuka, Y.6
Nakazawa, M.7
Matsuoka, R.8
-
48
-
-
40749085597
-
Interaction sites among phospholamban, sarcolipin, and the sarco(endo)plasmic reticulum Ca(2+)-ATPase
-
Morita, T. , Hussain, D. , Asahi, M. , Tsuda, T. , Kurzydlowski, K. , Toyoshima, C. and MacLennan, D. H. (2008). Interaction sites among phospholamban, sarcolipin, and the sarco(endo)plasmic reticulum Ca(2+)-ATPase. Biochem. Biophys. Res. Commun. 369, 188-194.
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.369
, pp. 188-194
-
-
Morita, T.1
Hussain, D.2
Asahi, M.3
Tsuda, T.4
Kurzydlowski, K.5
Toyoshima, C.6
MacLennan, D.H.7
-
49
-
-
33749344685
-
2+ activation of diffusible and bound pools of μ-calpain in rat skeletal muscle
-
2+ activation of diffusible and bound pools of μ-calpain in rat skeletal muscle. J. Physiol. 576, 595-612.
-
(2006)
J. Physiol.
, vol.576
, pp. 595-612
-
-
Murphy, R.M.1
Verburg, E.2
Lamb, G.D.3
-
50
-
-
24344450668
-
Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2
-
Nakagawa, O. , Arnold, M. , Nakagawa, M. , Hamada, H. , Shelton, J. M. , Kusano, H. , Harris, T. M. , Childs, G. , Campbell, K. P. , Richardson, J. A. et al. (2005). Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2. Genes Dev. 19, 2066-2077.
-
(2005)
Genes Dev.
, vol.19
, pp. 2066-2077
-
-
Nakagawa, O.1
Arnold, M.2
Nakagawa, M.3
Hamada, H.4
Shelton, J.M.5
Kusano, H.6
Harris, T.M.7
Childs, G.8
Campbell, K.P.9
Richardson, J.A.10
-
51
-
-
0025256855
-
Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin
-
Nguyen thi, M. , Cartwright, A. J. , Morris, G. E. , Love, D. R. , Bloomfield, J. F. and Davies, K. E. (1990). Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. FEBS Lett. 262, 237-240.
-
(1990)
FEBS Lett.
, vol.262
, pp. 237-240
-
-
Nguyenthi, M.1
Cartwright, A.J.2
Morris, G.E.3
Love, D.R.4
Bloomfield, J.F.5
Davies, K.E.6
-
52
-
-
34548341774
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
-
Nicot, A.-S. , Toussaint, A. , Tosch, V. , Kretz, C. , Wallgren-Pettersson, C. , Iwarsson, E. , Kingston, H. , Garnier, J.-M. , Biancalana, V. , Oldfors, A. et al. (2007). Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat. Genet. 39, 1134-1139.
-
(2007)
Nat. Genet.
, vol.39
, pp. 1134-1139
-
-
Nicot, A.-S.1
Toussaint, A.2
Tosch, V.3
Kretz, C.4
Wallgren-Pettersson, C.5
Iwarsson, E.6
Kingston, H.7
Garnier, J.-M.8
Biancalana, V.9
Oldfors, A.10
-
53
-
-
48749123823
-
Sarcoplasmic reticulum calcium uptake and speed of relaxation are depressed in nebulin-free skeletal muscle
-
Ottenheijm, C. A. C. , Fong, C. , Vangheluwe, P. , Wuytack, F. , Babu, G. J. , Periasamy, M. , Witt, C. C. , Labeit, S. and Granzier, H. (2008). Sarcoplasmic reticulum calcium uptake and speed of relaxation are depressed in nebulin-free skeletal muscle. FASEB J. 22, 2912-2919.
-
(2008)
FASEB J.
, vol.22
, pp. 2912-2919
-
-
Ottenheijm, C.A.C.1
Fong, C.2
Vangheluwe, P.3
Wuytack, F.4
Babu, G.J.5
Periasamy, M.6
Witt, C.C.7
Labeit, S.8
Granzier, H.9
-
54
-
-
41049089262
-
Phospholamban overexpression in transgenic rabbits
-
Pattison, J. S. , Waggoner, J. R. , James, J. , Martin, L. , Gulick, J. , Osinska, H. , Klevitsky, R. , Kranias, E. G. and Robbins, J. (2008). Phospholamban overexpression in transgenic rabbits. Transgenic Res. 17, 157-170.
-
(2008)
Transgenic Res.
, vol.17
, pp. 157-170
-
-
Pattison, J.S.1
Waggoner, J.R.2
James, J.3
Martin, L.4
Gulick, J.5
Osinska, H.6
Klevitsky, R.7
Kranias, E.G.8
Robbins, J.9
-
55
-
-
0027499946
-
In vivo analysis of the murine beta-myosin heavy chain gene promoter
-
Rindt, H. , Gulick, J. , Knotts, S. , Neumann, J. and Robbins, J. (1993). In vivo analysis of the murine beta-myosin heavy chain gene promoter. J. Biol. Chem. 268, 5332-5338.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 5332-5338
-
-
Rindt, H.1
Gulick, J.2
Knotts, S.3
Neumann, J.4
Robbins, J.5
-
56
-
-
0028909994
-
Segregation of cardiac and skeletal muscle-specific regulatory elements of the beta-myosin heavy chain gene
-
Rindt, H. , Knotts, S. and Robbins, J. (1995). Segregation of cardiac and skeletal muscle-specific regulatory elements of the beta-myosin heavy chain gene. Proc. Natl. Acad. Sci. USA 92, 1540-1544.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 1540-1544
-
-
Rindt, H.1
Knotts, S.2
Robbins, J.3
-
57
-
-
77950930695
-
Centronuclear myopathies: A widening concept
-
Romero, N. B. (2010). Centronuclear myopathies: A widening concept. Neuromuscul. Disord. 20, 223-228.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 223-228
-
-
Romero, N.B.1
-
58
-
-
0019966026
-
Fetal myosin heavy chains in regenerating muscle
-
Sartore, S. , Gorza, L. and Schiaffino, S. (1982). Fetal myosin heavy chains in regenerating muscle. Nature 298, 294-296.
-
(1982)
Nature
, vol.298
, pp. 294-296
-
-
Sartore, S.1
Gorza, L.2
Schiaffino, S.3
-
59
-
-
80054760368
-
Fiber types in mammalian skeletal muscles
-
Schiaffino, S. and Reggiani, C. (2011). Fiber types in mammalian skeletal muscles. Physiol. Rev. 91, 1447-1531.
-
(2011)
Physiol. Rev.
, vol.91
, pp. 1447-1531
-
-
Schiaffino, S.1
Reggiani, C.2
-
60
-
-
0024677890
-
Three myosin heavy chain isoforms in type 2 skeletal muscle fibres
-
Schiaffino, S. , Gorza, L. , Sartore, S. , Saggin, L. , Ausoni, S. , Vianello, M. , Gundersen, K. and Lømo, T. (1989). Three myosin heavy chain isoforms in type 2 skeletal muscle fibres. J. Muscle Res. Cell Motil. 10, 197-205.
-
(1989)
J. Muscle Res. Cell Motil.
, vol.10
, pp. 197-205
-
-
Schiaffino, S.1
Gorza, L.2
Sartore, S.3
Saggin, L.4
Ausoni, S.5
Vianello, M.6
Gundersen, K.7
Lømo, T.8
-
61
-
-
0037470512
-
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
-
Schmitt, J. P. , Kamisago, M. , Asahi, M. , Li, G. H. , Ahmad, F. , Mende, U. , Kranias, E. G. , MacLennan, D. H. , Seidman, J. G. and Seidman, C. E. (2003). Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299, 1410-1413.
-
(2003)
Science
, vol.299
, pp. 1410-1413
-
-
Schmitt, J.P.1
Kamisago, M.2
Asahi, M.3
Li, G.H.4
Ahmad, F.5
Mende, U.6
Kranias, E.G.7
MacLennan, D.H.8
Seidman, J.G.9
Seidman, C.E.10
-
62
-
-
84890031164
-
2+ uptake in skeletal muscles of mouse models of Duchenne muscular dystrophy
-
2+ uptake in skeletal muscles of mouse models of Duchenne muscular dystrophy. J. Muscle Res. Cell Motil. 34, 349-356.
-
(2013)
J. Muscle Res. Cell Motil.
, vol.34
, pp. 349-356
-
-
Schneider, J.S.1
Shanmugam, M.2
Gonzalez, J.P.3
Lopez, H.4
Gordan, R.5
Fraidenraich, D.6
Babu, G.J.7
-
63
-
-
6944220409
-
Overexpression of phospholamban in slow-twitch skeletal muscle is associated with depressed contractile function and muscle remodeling
-
Song, Q. , Young, K. B. , Chu, G. , Gulick, J. , Gerst, M. , Grupp, I. L. , Robbins, J. and Kranias, E. G. (2004). Overexpression of phospholamban in slow-twitch skeletal muscle is associated with depressed contractile function and muscle remodeling. FASEB J. 18, 974-976.
-
(2004)
FASEB J.
, vol.18
, pp. 974-976
-
-
Song, Q.1
Young, K.B.2
Chu, G.3
Gulick, J.4
Gerst, M.5
Grupp, I.L.6
Robbins, J.7
Kranias, E.G.8
-
64
-
-
0017197647
-
Creatine kinase in serum: 1. Determination of optimum reaction conditions
-
Szasz, G. , Gruber, W. and Bernt, E. (1976). Creatine kinase in serum: 1. Determination of optimum reaction conditions. Clin. Chem. 22, 650-656.
-
(1976)
Clin. Chem.
, vol.22
, pp. 650-656
-
-
Szasz, G.1
Gruber, W.2
Bernt, E.3
-
65
-
-
79955560883
-
Suction-modified Bergstrom muscle biopsy technique: Experience with 13, 500 procedures
-
Tarnopolsky, M. A. , Pearce, E. , Smith, K. and Lach, B. (2011). Suction-modified Bergstrom muscle biopsy technique: Experience with 13, 500 procedures. Muscle Nerve 43, 716-725.
-
(2011)
Muscle Nerve
, vol.43
, pp. 716-725
-
-
Tarnopolsky, M.A.1
Pearce, E.2
Smith, K.3
Lach, B.4
-
66
-
-
85021011139
-
Excitation-contraction coupling
-
(ed. M. Binder, N. Hirokawa and U. Windhorst), . Berlin; Heidelberg: Springer.
-
Tupling, A. R. (2009). Excitation-contraction coupling. In Encyclopedia of Neuroscience (ed. M. Binder, N. Hirokawa and U. Windhorst), pp. 1479-1483. Berlin; Heidelberg: Springer.
-
(2009)
Encyclopedia of Neuroscience
, pp. 1479-1483
-
-
Tupling, A.R.1
-
69
-
-
78249290502
-
RYR1 mutations are a common cause of congenital myopathies with central nuclei
-
Wilmshurst, J. M. , Lillis, S. , Zhou, H. , Pillay, K. , Henderson, H. , Kress, W. , Müller, C. R. , Ndondo, A. , Cloke, V. , Cullup, T. et al. (2010). RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann. Neurol. 68, 717-726.
-
(2010)
Ann. Neurol.
, vol.68
, pp. 717-726
-
-
Wilmshurst, J.M.1
Lillis, S.2
Zhou, H.3
Pillay, K.4
Henderson, H.5
Kress, W.6
Müller, C.R.7
Ndondo, A.8
Cloke, V.9
Cullup, T.10
-
70
-
-
84892924162
-
Long-term effects of AAV1/SERCA2a gene transfer in patients with severe heart failure: Analysis of recurrent cardiovascular events and mortality
-
Zsebo, K. , Yaroshinsky, A. , Rudy, J. J. , Wagner, K. , Greenberg, B. , Jessup, M. and Hajjar, R. J. (2014). Long-term effects of AAV1/SERCA2a gene transfer in patients with severe heart failure: Analysis of recurrent cardiovascular events and mortality. Circ. Res. 114, 101-108.
-
(2014)
Circ. Res.
, vol.114
, pp. 101-108
-
-
Zsebo, K.1
Yaroshinsky, A.2
Rudy, J.J.3
Wagner, K.4
Greenberg, B.5
Jessup, M.6
Hajjar, R.J.7
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