-
1
-
-
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
-
2
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
Bitoun, M., Maugenre, S., Jeannet, P.Y., Lacene, E., Ferrer, X., Laforet, P., Martin, J.J., Laporte, J., Lochmuller, H. and 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
Lacene, E.4
Ferrer, X.5
Laforet, P.6
Martin, J.J.7
Laporte, J.8
Lochmuller, H.9
Beggs, A.H.10
-
3
-
-
37849052426
-
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
-
Bitoun, M., Bevilacqua, J.A., Prudhon, B., Maugenre, S., Taratuto, A.L., Monges, S., Lubieniecki, F., Cances, C., Uro-Coste, E. and Mayer, M. et al. (2007) Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann. Neurol., 62, 666-670.
-
(2007)
Ann. Neurol.
, vol.62
, pp. 666-670
-
-
Bitoun, M.1
Bevilacqua, J.A.2
Prudhon, B.3
Maugenre, S.4
Taratuto, A.L.5
Monges, S.6
Lubieniecki, F.7
Cances, C.8
Uro-Coste, E.9
Mayer, M.10
-
4
-
-
33745082176
-
Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy
-
Fischer, D., Herasse, M., Bitoun, M., Barragan-Campos, H.M., Chiras, J., Laforet, P., Fardeau, M., Eymard, B., Guicheney, P. and Romero, N.B. (2006) Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain, 129, 1463-1469.
-
(2006)
Brain
, vol.129
, pp. 1463-1469
-
-
Fischer, D.1
Herasse, M.2
Bitoun, M.3
Barragan-Campos, H.M.4
Chiras, J.5
Laforet, P.6
Fardeau, M.7
Eymard, B.8
Guicheney, P.9
Romero, N.B.10
-
5
-
-
33846585109
-
MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement
-
Schessl, J., Medne, L., Hu, Y., Zou, Y., Brown, M.J., Huse, J.T., Torigian, D.A., Jungbluth, H., Goebel, H.H. and Bonnemann, C.G. (2007) MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement. Neuromuscul. Disord., 17, 28-32.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 28-32
-
-
Schessl, J.1
Medne, L.2
Hu, Y.3
Zou, Y.4
Brown, M.J.5
Huse, J.T.6
Torigian, D.A.7
Jungbluth, H.8
Goebel, H.H.9
Bonnemann, C.G.10
-
6
-
-
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
-
7
-
-
34547597494
-
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease
-
Fabrizi, G.M., Ferrarini, M., Cavallaro, T., Cabrini, I., Cerini, R., Bertolasi, L. and Rizzuto, N. (2007) Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. Neurology, 69, 291-295.
-
(2007)
Neurology
, vol.69
, pp. 291-295
-
-
Fabrizi, G.M.1
Ferrarini, M.2
Cavallaro, T.3
Cabrini, I.4
Cerini, R.5
Bertolasi, L.6
Rizzuto, N.7
-
8
-
-
20144366550
-
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease
-
Züchner, S., Noureddine, M., Kennerson, M., Verhoeven, K., Claeys, K., De Jonghe, P., Merory, J., Oliveira, S.A., Speer, M.C. and Stenger, J.E. et al. (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat. Genet., 37, 289-294.
-
(2005)
Nat. Genet.
, vol.37
, pp. 289-294
-
-
Züchner, S.1
Noureddine, M.2
Kennerson, M.3
Verhoeven, K.4
Claeys, K.5
De Jonghe, P.6
Merory, J.7
Oliveira, S.A.8
Speer, M.C.9
Stenger, J.E.10
-
9
-
-
77950919875
-
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
-
Susman, R.D., Quijano-Roy, S., Yang, N., Webster, R., Clarke, N.F., Dowling, J., Kennerson, M., Nicholson, G., Biancalana, V. and Ilkovski, B. et al. (2010) Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. Neuromuscul. Disord., 20, 229-237.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 229-237
-
-
Susman, R.D.1
Quijano-Roy, S.2
Yang, N.3
Webster, R.4
Clarke, N.F.5
Dowling, J.6
Kennerson, M.7
Nicholson, G.8
Biancalana, V.9
Ilkovski, B.10
-
10
-
-
0028137796
-
Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues
-
Cook, T.A., Urrutia, R. and McNiven, M.A. (1994) Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues. Proc. Natl Acad. Sci. USA, 91, 644-648.
-
(1994)
Proc. Natl Acad. Sci. USA
, vol.91
, pp. 644-648
-
-
Cook, T.A.1
Urrutia, R.2
McNiven, M.A.3
-
11
-
-
0742288598
-
The dynamin superfamily: universal membrane tubulation and fission molecules?
-
Praefcke, G.J. and McMahon, H.T. (2004) The dynamin superfamily: universal membrane tubulation and fission molecules? Nat. Rev. Mol. Cell Biol., 5, 133-147.
-
(2004)
Nat. Rev. Mol. Cell Biol.
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.1
McMahon, H.T.2
-
12
-
-
77951217661
-
Dynamin 2 and human diseases
-
Durieux, A.C., Prudhon, B., Guicheney, P. and Bitoun, M. (2010) Dynamin 2 and human diseases. J. Mol. Med., 88, 339-350.
-
(2010)
J. Mol. Med.
, vol.88
, pp. 339-350
-
-
Durieux, A.C.1
Prudhon, B.2
Guicheney, P.3
Bitoun, M.4
-
13
-
-
73349087213
-
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis
-
Bitoun, M., Durieux, A.C., Prudhon, B., Bevilacqua, J.A., Herledan, A., Sakanyan, V., Urtizberea, A., Cartier, L., Romero, N.B. and Guicheney, P. (2009) Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis. Hum. Mutat., 30, 1419-1427.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1419-1427
-
-
Bitoun, M.1
Durieux, A.C.2
Prudhon, B.3
Bevilacqua, J.A.4
Herledan, A.5
Sakanyan, V.6
Urtizberea, A.7
Cartier, L.8
Romero, N.B.9
Guicheney, P.10
-
14
-
-
67449124363
-
Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant
-
Tanabe, K. and Takei, K. (2009) Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant. J. Cell Biol., 185, 939-48.
-
(2009)
J. Cell Biol.
, vol.185
, pp. 939-948
-
-
Tanabe, K.1
Takei, K.2
-
15
-
-
0032489879
-
Dynamin-mediated internalization of caveolae
-
Henley, J.R., Krueger, E.W., Oswald, B.J. and McNiven, M.A. (1998) Dynamin-mediated internalization of caveolae. J. Cell Biol., 141, 85-99.
-
(1998)
J. Cell Biol.
, vol.141
, pp. 85-99
-
-
Henley, J.R.1
Krueger, E.W.2
Oswald, B.J.3
McNiven, M.A.4
-
16
-
-
0041424822
-
Molecular mechanisms modulating muscle mass
-
Glass, D.J. (2003) Molecular mechanisms modulating muscle mass. Trends Mol. Med., 9, 344-350.
-
(2003)
Trends Mol. Med.
, vol.9
, pp. 344-350
-
-
Glass, D.J.1
-
17
-
-
0347285363
-
Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression
-
Lecker, S.H., Jagoe, R.T., Gilbert, A., Gomes, M., Baracos, V., Bailey, J., Price, S.R., Mitch, W.E. and Goldberg, A.L. (2004) Multiple types of skeletal muscle atrophy involve a common program of changes in gene expression. FASEB J., 18, 39-51.
-
(2004)
FASEB J.
, vol.18
, pp. 39-51
-
-
Lecker, S.H.1
Jagoe, R.T.2
Gilbert, A.3
Gomes, M.4
Baracos, V.5
Bailey, J.6
Price, S.R.7
Mitch, W.E.8
Goldberg, A.L.9
-
18
-
-
33846015010
-
Rapid disuse and denervation atrophy involve transcriptional changes similar to those of muscle wasting during systemic diseases
-
Sacheck, J.M., Hyatt, J.P., Raffaello, A., Jagoe, R.T., Roy, R.R., Edgerton, V.R., Lecker, S.H. and Goldberg, A.L. (2007) Rapid disuse and denervation atrophy involve transcriptional changes similar to those of muscle wasting during systemic diseases. FASEB J., 21, 140-155.
-
(2007)
FASEB J.
, vol.21
, pp. 140-155
-
-
Sacheck, J.M.1
Hyatt, J.P.2
Raffaello, A.3
Jagoe, R.T.4
Roy, R.R.5
Edgerton, V.R.6
Lecker, S.H.7
Goldberg, A.L.8
-
19
-
-
49049083353
-
Signaling in muscle atrophy and hypertrophy
-
Sandri, M. (2008) Signaling in muscle atrophy and hypertrophy. Physiology (Bethesda), 23, 160-170.
-
(2008)
Physiology (Bethesda)
, vol.23
, pp. 160-170
-
-
Sandri, M.1
-
20
-
-
0035941020
-
Identification of ubiquitin ligases required for skeletal muscle atrophy
-
Bodine, S.C., Latres, E., Baumhueter, S., Lai, V.K., Nunez, L., Clarke, B.A., Poueymirou, W.T., Panaro, F.J., Na, E. and Dharmarajan, K. et al. (2001) Identification of ubiquitin ligases required for skeletal muscle atrophy. Science, 294, 1704-1708.
-
(2001)
Science
, vol.294
, pp. 1704-1708
-
-
Bodine, S.C.1
Latres, E.2
Baumhueter, S.3
Lai, V.K.4
Nunez, L.5
Clarke, B.A.6
Poueymirou, W.T.7
Panaro, F.J.8
Na, E.9
Dharmarajan, K.10
-
21
-
-
11144356337
-
Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy
-
Sandri, M., Sandri, C., Gilbert, A., Skurk, C., Calabria, E., Picard, A., Walsh, K., Schiaffino, S., Lecker, S.H. and Goldberg, A.L. (2004) Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy. Cell, 117, 399-412.
-
(2004)
Cell
, vol.117
, pp. 399-412
-
-
Sandri, M.1
Sandri, C.2
Gilbert, A.3
Skurk, C.4
Calabria, E.5
Picard, A.6
Walsh, K.7
Schiaffino, S.8
Lecker, S.H.9
Goldberg, A.L.10
-
22
-
-
36448968532
-
FoxO3 coordinately activates protein degradation by the autophagic/lysosomal and proteasomal pathways in atrophying muscle cells
-
Zhao, J., Brault, J.J., Schild, A., Cao, P., Sandri, M., Schiaffino, S., Lecker, S.H. and Goldberg, A.L. (2007) FoxO3 coordinately activates protein degradation by the autophagic/lysosomal and proteasomal pathways in atrophying muscle cells. Cell Metab., 6, 472-483.
-
(2007)
Cell Metab.
, vol.6
, pp. 472-483
-
-
Zhao, J.1
Brault, J.J.2
Schild, A.3
Cao, P.4
Sandri, M.5
Schiaffino, S.6
Lecker, S.H.7
Goldberg, A.L.8
-
23
-
-
26444610334
-
Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway
-
Kramerova, I., Kudryashova, E., Venkatraman, G. and Spencer, M.J. (2005) Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway. Hum. Mol. Genet., 14, 2125-2134.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 2125-2134
-
-
Kramerova, I.1
Kudryashova, E.2
Venkatraman, G.3
Spencer, M.J.4
-
24
-
-
85047693596
-
Activation of caspase-3 is an initial step triggering accelerated muscle proteolysis in catabolic conditions
-
Du, J., Wang, X., Miereles, C., Bailey, J.L., Debigare, R., Zheng, B., Price, S.R. and Mitch, W.E. (2004) Activation of caspase-3 is an initial step triggering accelerated muscle proteolysis in catabolic conditions. J. Clin. Invest., 113, 115-123.
-
(2004)
J. Clin. Invest.
, vol.113
, pp. 115-123
-
-
Du, J.1
Wang, X.2
Miereles, C.3
Bailey, J.L.4
Debigare, R.5
Zheng, B.6
Price, S.R.7
Mitch, W.E.8
-
25
-
-
1642366780
-
Membrane traffic in skeletal muscle
-
Towler, M.C., Kaufman, S.J. and Brodsky, F.M. (2004) Membrane traffic in skeletal muscle. Traffic, 5, 129-139.
-
(2004)
Traffic
, vol.5
, pp. 129-139
-
-
Towler, M.C.1
Kaufman, S.J.2
Brodsky, F.M.3
-
26
-
-
11244278743
-
Reorganization of microtubule nucleation during muscle differentiation
-
Bugnard, E., Zaal, K.J. and Ralston, E. (2005) Reorganization of microtubule nucleation during muscle differentiation. Cell Motil. Cytoskeleton, 60, 1-13.
-
(2005)
Cell Motil. Cytoskeleton
, vol.60
, pp. 1-13
-
-
Bugnard, E.1
Zaal, K.J.2
Ralston, E.3
-
27
-
-
0021991238
-
Fate of microtubule-organizing centers during myogenesis in vitro
-
Tassin, A.M., Maro, B. and Bornens, M. (1985) Fate of microtubule-organizing centers during myogenesis in vitro. J. Cell Biol., 100, 35-46.
-
(1985)
J. Cell Biol.
, vol.100
, pp. 35-46
-
-
Tassin, A.M.1
Maro, B.2
Bornens, M.3
-
28
-
-
77954906120
-
Dynamin 2mutants linked to centronuclearmyopathies form abnormally stable polymers
-
Wang, L., Barylko, B., Byers, C., Ross, J.A., Jameson, D.M. and Albanesi, J.P. (2010) Dynamin 2mutants linked to centronuclearmyopathies form abnormally stable polymers. J. Biol. Chem., 285, 22753-22757.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 22753-22757
-
-
Wang, L.1
Barylko, B.2
Byers, C.3
Ross, J.A.4
Jameson, D.M.5
Albanesi, J.P.6
-
29
-
-
0037119615
-
Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle
-
Lee, E., Marcucci, M., Daniell, L., Pypaert, M., Weisz, O.A., Ochoa, G.C., Farsad, K., Wenk, M.R. and De Camilli, P. (2002) Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science, 297, 1193-1196.
-
(2002)
Science
, vol.297
, pp. 1193-1196
-
-
Lee, E.1
Marcucci, M.2
Daniell, L.3
Pypaert, M.4
Weisz, O.A.5
Ochoa, G.C.6
Farsad, K.7
Wenk, M.R.8
De Camilli, P.9
-
30
-
-
0035890136
-
Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila
-
Razzaq, A., Robinson, I.M., McMahon, H.T., Skepper, J.N., Su, Y., Zelhof, A.C., Jackson, A.P., Gay, N.J. and O'Kane, C.J. (2001) Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. Genes Dev., 15, 2967-2979.
-
(2001)
Genes Dev.
, vol.15
, pp. 2967-2979
-
-
Razzaq, A.1
Robinson, I.M.2
McMahon, H.T.3
Skepper, J.N.4
Su, Y.5
Zelhof, A.C.6
Jackson, A.P.7
Gay, N.J.8
O'Kane, C.J.9
-
31
-
-
46249127073
-
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
-
Buj-Bello, A., Fougerousse, F., Schwab, Y., Messaddeq, N., Spehner, D., Pierson, C.R., Durand, M., Kretz, C., Danos, O. and Douar, A.M. et al. (2008) AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum. Mol. Genet., 17, 2132-2143.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2132-2143
-
-
Buj-Bello, A.1
Fougerousse, F.2
Schwab, Y.3
Messaddeq, N.4
Spehner, D.5
Pierson, C.R.6
Durand, M.7
Kretz, C.8
Danos, O.9
Douar, A.M.10
-
32
-
-
61449203897
-
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
-
Dowling, J.J., Vreede, A.P., Low, S.E., Gibbs, E.M., Kuwada, J.Y., Bonnemann, C.G. and Feldman, E.L. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet., 5, e1000372.
-
(2009)
PLoS Genet.
, vol.5
-
-
Dowling, J.J.1
Vreede, A.P.2
Low, S.E.3
Gibbs, E.M.4
Kuwada, J.Y.5
Bonnemann, C.G.6
Feldman, E.L.7
-
33
-
-
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. and 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
-
34
-
-
34250838745
-
Dysferlin in membrane trafficking and patch repair
-
Glover, L. and Brown, R.H. (2007) Dysferlin in membrane trafficking and patch repair. Traffic, 8, 785-794.
-
(2007)
Traffic
, vol.8
, pp. 785-794
-
-
Glover, L.1
Brown, R.H.2
-
35
-
-
1642419178
-
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition
-
Capanni, C., Sabatelli, P., Mattioli, E., Ognibene, A., Columbaro, M., Lattanzi, G., Merlini, L., Minetti, C., Maraldi, N.M. and Squarzoni, S. (2003) Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Exp. Mol. Med., 35, 538-544.
-
(2003)
Exp. Mol. Med.
, vol.35
, pp. 538-544
-
-
Capanni, C.1
Sabatelli, P.2
Mattioli, E.3
Ognibene, A.4
Columbaro, M.5
Lattanzi, G.6
Merlini, L.7
Minetti, C.8
Maraldi, N.M.9
Squarzoni, S.10
-
36
-
-
0035880516
-
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
-
Matsuda, C., Hayashi, Y.K., Ogawa, M., Aoki, M., Murayama, K., Nishino, I., Nonaka, I., Arahata, K. and Brown, R.H. Jr (2001) The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum. Mol. Genet., 10, 1761-1766.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1761-1766
-
-
Matsuda, C.1
Hayashi, Y.K.2
Ogawa, M.3
Aoki, M.4
Murayama, K.5
Nishino, I.6
Nonaka, I.7
Arahata, K.8
Brown R.H., Jr.9
-
37
-
-
71649086146
-
Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits
-
Ferguson, S.M., Raimondi, A., Paradise, S., Shen, H., Mesaki, K., Ferguson, A., Destaing, O., Ko, G., Takasaki, J. and Cremona, O. et al. (2009) Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits. Dev. Cell, 17, 811-822.
-
(2009)
Dev. Cell
, vol.17
, pp. 811-822
-
-
Ferguson, S.M.1
Raimondi, A.2
Paradise, S.3
Shen, H.4
Mesaki, K.5
Ferguson, A.6
Destaing, O.7
Ko, G.8
Takasaki, J.9
Cremona, O.10
-
38
-
-
27144555317
-
Clathrin adaptor AP-2 is essential for early embryonal development
-
Mitsunari, T., Nakatsu, F., Shioda, N., Love, P.E., Grinberg, A., Bonifacino, J.S. and Ohno, H. (2005) Clathrin adaptor AP-2 is essential for early embryonal development. Mol. Cell Biol., 25, 9318-9323.
-
(2005)
Mol. Cell Biol.
, vol.25
, pp. 9318-9323
-
-
Mitsunari, T.1
Nakatsu, F.2
Shioda, N.3
Love, P.E.4
Grinberg, A.5
Bonifacino, J.S.6
Ohno, H.7
-
39
-
-
33746918740
-
Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals
-
Ohno, H. (2006) Physiological roles of clathrin adaptor AP complexes: lessons from mutant animals. J. Biochem., 139, 943-948.
-
(2006)
J. Biochem.
, vol.139
, pp. 943-948
-
-
Ohno, H.1
-
40
-
-
34247583278
-
A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis
-
Ferguson, S.M., Brasnjo, G., Hayashi, M., Wolfel, M., Collesi, C., Giovedi, S., Raimondi, A., Gong, L.W., Ariel, P. and Paradise, S. et al. (2007) A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science, 316, 570-574.
-
(2007)
Science
, vol.316
, pp. 570-574
-
-
Ferguson, S.M.1
Brasnjo, G.2
Hayashi, M.3
Wolfel, M.4
Collesi, C.5
Giovedi, S.6
Raimondi, A.7
Gong, L.W.8
Ariel, P.9
Paradise, S.10
-
41
-
-
58249115047
-
Interpreting neonatal lethal phenotypes in mouse mutants: insights into gene function and human diseases
-
Turgeon, B. and Meloche, S. (2009) Interpreting neonatal lethal phenotypes in mouse mutants: insights into gene function and human diseases. Physiol. Rev., 89, 1-26.
-
(2009)
Physiol. Rev.
, vol.89
, pp. 1-26
-
-
Turgeon, B.1
Meloche, S.2
-
42
-
-
0003524984
-
-
3rd edn. W. B. Saunders/Elsevier, London, Philadelphia
-
Dubowitz, V. and Sewry, C. (2007) Muscle Biopsy. A Practical Approach, 3rd edn. W.B. Saunders/Elsevier, London, Philadelphia, pp. 21-39.
-
(2007)
Muscle Biopsy. A Practical Approach
, pp. 21-39
-
-
Dubowitz, V.1
Sewry, C.2
-
43
-
-
5144232790
-
The alteration of calcium homeostasis in adult dystrophic mdx muscle fibers is worsened by a chronic exercise in vivo
-
doi:10.1016/j.nbd. 2004.06.002
-
Fraysse, B., Liantonio, A., Cetrone, M., Burdi, R., Pierno, S., Frigeri, A., Pisoni, M., Camerino, C. and De Luca, A. (2004) The alteration of calcium homeostasis in adult dystrophic mdx muscle fibers is worsened by a chronic exercise in vivo. Neurobiol. Dis., 17, 144-154. doi:10.1016/j.nbd.2004.06.002
-
(2004)
Neurobiol. Dis.
, vol.17
, pp. 144-154
-
-
Fraysse, B.1
Liantonio, A.2
Cetrone, M.3
Burdi, R.4
Pierno, S.5
Frigeri, A.6
Pisoni, M.7
Camerino, C.8
De Luca, A.9
-
45
-
-
77953586729
-
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres
-
Trollet, C., Anvar, S.Y., Venema, A., Hargreaves, I.P., Foster, K., Vignaud, A., Ferry, A., Negroni, E., Hourde, C. and Baraibar, M.A. et al. (2010) Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres. Hum. Mol. Genet., 19, 2191-2207.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2191-2207
-
-
Trollet, C.1
Anvar, S.Y.2
Venema, A.3
Hargreaves, I.P.4
Foster, K.5
Vignaud, A.6
Ferry, A.7
Negroni, E.8
Hourde, C.9
Baraibar, M.A.10
|