-
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
-
-
0029023971
-
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
-
Wallgren-Pettersson, C., Clarke, A., Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R.J. and Barth, P.G. (1995) The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J. Med. Genet., 32, 673-679.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
Clarke, A.2
Samson, F.3
Fardeau, M.4
Dubowitz, V.5
Moser, H.6
Grimm, T.7
Barohn, R.J.8
Barth, P.G.9
-
3
-
-
0032986873
-
Medical complications in long-term survivors with X-linked myotubular myopathy
-
Herman, G., Finegold, M., Zhao, W., de Gouyon, B. and Metzenberg, A. (1999) Medical complications in long-term survivors with X-linked myotubular myopathy. J. Pediatr., 134, 206-214.
-
(1999)
J. Pediatr.
, vol.134
, pp. 206-214
-
-
Herman, G.1
Finegold, M.2
Zhao, W.3
de Gouyon, B.4
Metzenberg, A.5
-
4
-
-
61349184337
-
Necklace fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
-
Bevilacqua, J., Bitoun, M., Biancalana, V., Oldfors, A., Stoltenburg, G., Claeys, K.G., Lace'ne, E., Brochier, G., Manéré, L., Laforê t, P. et al. (2009) Necklace fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. Acta Neuropathol., 117, 283-291.
-
(2009)
Acta Neuropathol
, vol.117
, pp. 283-291
-
-
Bevilacqua, J.1
Bitoun, M.2
Biancalana, V.3
Oldfors, A.4
Stoltenburg, G.5
Claeys, K.G.6
Lace'ne, E.7
Brochier, G.8
Manéré, L.9
Laforêt, P.10
-
5
-
-
0001960683
-
Congenital myopathies
-
Mastaglia, F.L. and Detchant, L.W.O. (eds), Churchill Livingstone, Edinburgh
-
Fardeau, M. (1992) Congenital myopathies. In Mastaglia, F.L. and Detchant, L.W.O. (eds), Skeletal muscle pathology. Churchill Livingstone, Edinburgh, pp. 1488-1531.
-
(1992)
Skeletal muscle pathology
, pp. 1488-1531
-
-
Fardeau, M.1
-
6
-
-
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
-
7
-
-
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
-
8
-
-
0037069371
-
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
-
Buj-Bello, A., Laugel, V., Messaddeq, N., Zahreddine, H., Laporte, J., Pellissier, J.F. and Mandel, J.L. (2002) The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc. Natl Acad. Sci. USA, 99, 15060-15065.
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 15060-15065
-
-
Buj-Bello, A.1
Laugel, V.2
Messaddeq, N.3
Zahreddine, H.4
Laporte, J.5
Pellissier, J.F.6
Mandel, J.L.7
-
9
-
-
84856350401
-
Modeling the human MTM1 p R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
-
Pierson, C.R., Dulin-Smith, A.N., Durban, A.N., Marshall, M.L., Marshall, J.T., Snyder, A.D., Naiyer, N., Gladman, J.T., Chandler, D.S., Lawlor, M.W. et al. (2012) Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum. Mol. Genet., 21, 811-825.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 811-825
-
-
Pierson, C.R.1
Dulin-Smith, A.N.2
Durban, A.N.3
Marshall, M.L.4
Marshall, J.T.5
Snyder, A.D.6
Naiyer, N.7
Gladman, J.T.8
Chandler, D.S.9
Lawlor, M.W.10
-
10
-
-
77957067406
-
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
-
Beggs, A.H., Bohm, J., Snead, E., Kozlowski, M., Maurer, M., Minor, K., Childers, M.K., Taylor, S.M., Hitte, C., Mickelson, J.R. et al. (2010) MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc. Natl Acad. Sci. USA, 107, 14697-14702.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 14697-14702
-
-
Beggs, A.H.1
Bohm, J.2
Snead, E.3
Kozlowski, M.4
Maurer, M.5
Minor, K.6
Childers, M.K.7
Taylor, S.M.8
Hitte, C.9
Mickelson, J.R.10
-
11
-
-
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
-
12
-
-
78650942651
-
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
-
Hnia, K., Tronchere, H., Tomczak, K.K., Amoasii, L., Schultz, P., Beggs, A.H., Payrastre, B., Mandel, J.L. and Laporte, J. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J. Clin. Invest., 121, 70-85.
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 70-85
-
-
Hnia, K.1
Tronchere, H.2
Tomczak, K.K.3
Amoasii, L.4
Schultz, P.5
Beggs, A.H.6
Payrastre, B.7
Mandel, J.L.8
Laporte, J.9
-
13
-
-
84870051787
-
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
-
Dowling, J.J., Joubert, R., Low, S.E., Durban, A.N., Messaddeq, N., Li, X., Dulin-Smith, A.N., Snyder, A.D., Marshall, M.L., Marshall, J.T. et al. (2012) Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis. Model Mech., 5, 852-859.
-
(2012)
Dis. Model Mech.
, vol.5
, pp. 852-859
-
-
Dowling, J.J.1
Joubert, R.2
Low, S.E.3
Durban, A.N.4
Messaddeq, N.5
Li, X.6
Dulin-Smith, A.N.7
Snyder, A.D.8
Marshall, M.L.9
Marshall, J.T.10
-
14
-
-
84865267643
-
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment
-
Lawlor, M.W., Alexander, M.S., Viola, M.G., Meng, H., Joubert, R., Gupta, V., Motohashi, N., Manfready, R.A., Hsu, C.P., Huang, P. et al. (2012) Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am. J. Pathol., 181, 961-968.
-
(2012)
Am. J. Pathol.
, vol.181
, pp. 961-968
-
-
Lawlor, M.W.1
Alexander, M.S.2
Viola, M.G.3
Meng, H.4
Joubert, R.5
Gupta, V.6
Motohashi, N.7
Manfready, R.A.8
Hsu, C.P.9
Huang, P.10
-
15
-
-
0032836614
-
Engineering the mouse genome by sire-specific recombination
-
Metzger, D. and Feil, R. (1999) Engineering the mouse genome by sire-specific recombination. Curr. Opin. Biotechnol., 10, 470-476.
-
(1999)
Curr. Opin. Biotechnol.
, vol.10
, pp. 470-476
-
-
Metzger, D.1
Feil, R.2
-
16
-
-
0031058024
-
Recombinant adeno-associated virus for muscle directed gene therapy
-
Fisher, K.J., Jooss, K., Alston, J., Yang, Y., Haecker, S.E., High, K., Pathak, R., Raper, S.E. and Wilson, J.M. (1997) Recombinant adeno-associated virus for muscle directed gene therapy. Nat. Med., 3, 306-312.
-
(1997)
Nat. Med.
, vol.3
, pp. 306-312
-
-
Fisher, K.J.1
Jooss, K.2
Alston, J.3
Yang, Y.4
Haecker, S.E.5
High, K.6
Pathak, R.7
Raper, S.E.8
Wilson, J.M.9
-
17
-
-
0030671462
-
Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice
-
Snyder, R.O., Spratt, S.K., Lagarde, C., Bohl, D., Kaspar, B., Sloan, B., Cohen, L.K. and Danos, O. (1997) Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice. Hum. Gene Ther., 8, 1891-1900.
-
(1997)
Hum. Gene Ther.
, vol.8
, pp. 1891-1900
-
-
Snyder, R.O.1
Spratt, S.K.2
Lagarde, C.3
Bohl, D.4
Kaspar, B.5
Sloan, B.6
Cohen, L.K.7
Danos, O.8
-
18
-
-
33746874152
-
Adeno-associated virus serotypes: vector toolkit for human gene therapy
-
Wu, Z., Asokan, A. and Samulski, R.J. (2006) Adeno-associated virus serotypes: vector toolkit for human gene therapy. Mol. Ther., 14, 316-327.
-
(2006)
Mol. Ther.
, vol.14
, pp. 316-327
-
-
Wu, Z.1
Asokan, A.2
Samulski, R.J.3
-
19
-
-
0037133198
-
Adeno-associated virus effectively mediates conditional gene modification in the brain
-
Kaspar, B.K., Vissel, B., Bengoechea, T., Crone, S., Randolph-Moore, L., Muller, R., Brandon, E.P., Schaffer, D., Verma, I.M., Lee, K.F. et al. (2002) Adeno-associated virus effectively mediates conditional gene modification in the brain. Proc. Natl Acad. Sci. USA, 99, 2320-2325.
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 2320-2325
-
-
Kaspar, B.K.1
Vissel, B.2
Bengoechea, T.3
Crone, S.4
Randolph-Moore, L.5
Muller, R.6
Brandon, E.P.7
Schaffer, D.8
Verma, I.M.9
Lee, K.F.10
-
20
-
-
0037318822
-
Signalling pathways that mediate skeletal muscle hypertrophy and atrophy
-
Glass, D.J. (2003) Signalling pathways that mediate skeletal muscle hypertrophy and atrophy. Nat. Cell Biol., 5, 87-90.
-
(2003)
Nat. Cell Biol.
, vol.5
, pp. 87-90
-
-
Glass, D.J.1
-
21
-
-
77952626944
-
Autophagy in health and disease 3. Involvement of autophagy in muscle atrophy
-
Sandri, M. (2010) Autophagy in health and disease. 3. Involvement of autophagy in muscle atrophy. Am. J. Physiol. Cell Physiol., 298, 1291-1297.
-
(2010)
Am. J. Physiol. Cell Physiol.
, vol.298
, pp. 1291-1297
-
-
Sandri, M.1
-
22
-
-
84871879503
-
Defective autophagy and mTORC1 signaling in myotubularin null mice
-
Fetalvero, K.M., Yu, Y., Goetschkes, M., Liang, G., Valdez, R.A., Gould, T., Triantafellow, E., Bergling, S., Loureiro, J., Eash, J. et al. (2013) Defective autophagy and mTORC1 signaling in myotubularin null mice. Mol. Cell. Biol., 33, 98-110.
-
(2013)
Mol. Cell. Biol.
, vol.33
, pp. 98-110
-
-
Fetalvero, K.M.1
Yu, Y.2
Goetschkes, M.3
Liang, G.4
Valdez, R.A.5
Gould, T.6
Triantafellow, E.7
Bergling, S.8
Loureiro, J.9
Eash, J.10
-
23
-
-
1542740191
-
AAV-mediated gene transfer to skeletal muscle
-
Herzog, R.W. (2004) AAV-mediated gene transfer to skeletal muscle. Methods Mol. Biol., 246, 179-194.
-
(2004)
Methods Mol. Biol.
, vol.246
, pp. 179-194
-
-
Herzog, R.W.1
-
24
-
-
0035979247
-
Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells
-
Loonstra, A., Vooijs, M., Beverloo, H.B., Allak, B.A., van Drunen, E., Kanaar, R., Berns, A. and Jonkers, J. (2001) Growth inhibition and DNA damage induced by Cre recombinase in mammalian cells. Proc. Natl Acad. Sci. USA, 98, 9209-9214.
-
(2001)
Proc. Natl Acad. Sci. USA
, vol.98
, pp. 9209-9214
-
-
Loonstra, A.1
Vooijs, M.2
Beverloo, H.B.3
Allak, B.A.4
van Drunen, E.5
Kanaar, R.6
Berns, A.7
Jonkers, J.8
-
25
-
-
77950930695
-
Centronuclear myopathies: a widening concept
-
Romero, N. (2010) Centronuclear myopathies: a widening concept. Neuromuscul. Disord., 20, 223-228.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 223-228
-
-
Romero, N.1
-
26
-
-
34250380637
-
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy
-
Pierson, C., Agrawal, P., Blasko, J. and Beggs, A. (2007) Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul. Disord., 17, 562-568.
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 562-568
-
-
Pierson, C.1
Agrawal, P.2
Blasko, J.3
Beggs, A.4
-
27
-
-
77954695633
-
Immuno-analysis and FACS sorting of adult muscle fiber-associated stem/ precursor cells
-
Conboy, M.J., Cerletti, M., Wagers, A.J. and Conboy, I.M. (2010) Immuno-analysis and FACS sorting of adult muscle fiber-associated stem/ precursor cells. Methods Mol. Biol., 621, 165-173.
-
(2010)
Methods Mol. Biol.
, vol.621
, pp. 165-173
-
-
Conboy, M.J.1
Cerletti, M.2
Wagers, A.J.3
Conboy, I.M.4
-
28
-
-
79957621364
-
Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate
-
Razidlo, G.L., Katafiasz, D. and Taylor, G.S. (2011) Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. J. Biol. Chem., 286, 20005-20019.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 20005-20019
-
-
Razidlo, G.L.1
Katafiasz, D.2
Taylor, G.S.3
-
29
-
-
79956125843
-
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
-
Robb, S.A., Sewry, C.A., Dowling, J.J., Feng, L., Cullup, T., Lillis, S., Abbs, S., Lees, M.M., Laporte, J., Manzur, A. et al. (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul. Disord., 21, 379-386.
-
(2011)
Neuromuscul. Disord.
, vol.21
, pp. 379-386
-
-
Robb, S.A.1
Sewry, C.A.2
Dowling, J.J.3
Feng, L.4
Cullup, T.5
Lillis, S.6
Abbs, S.7
Lees, M.M.8
Laporte, J.9
Manzur, A.10
-
30
-
-
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., 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
-
31
-
-
78751683606
-
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency
-
Castets, P., Bertrand, A.T., Beuvin, M., Ferry, A., Le Grand, F., Castets, M., Chazot, G., Rederstorff, M., Krol, A., Lescure, A. et al. (2011) Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum. Mol. Genet., 20, 694-704.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 694-704
-
-
Castets, P.1
Bertrand, A.T.2
Beuvin, M.3
Ferry, A.4
Le Grand, F.5
Castets, M.6
Chazot, G.7
Rederstorff, M.8
Krol, A.9
Lescure, A.10
|