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Volumn 23, Issue 12, 2013, Pages 1033-1043

198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands

Author keywords

[No Author keywords available]

Indexed keywords

3E10 ANTIBODY; ANTIBODY; EDROPHONIUM CHLORIDE; MYOTUBULARIN; PARVOVIRUS VECTOR; PHOSPHATASE; PYRIDOSTIGMINE; UNCLASSIFIED DRUG;

EID: 84888428876     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.08.006     Document Type: Article
Times cited : (13)

References (67)
  • 1
    • 70349235329 scopus 로고    scopus 로고
    • 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands
    • Jungbluth H., Wallgren-Pettersson C., Laporte J.F. 164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands. Neuromuscul Disord 2009, 19:721-729.
    • (2009) Neuromuscul Disord , vol.19 , pp. 721-729
    • Jungbluth, H.1    Wallgren-Pettersson, C.2    Laporte, J.F.3
  • 2
    • 77950930695 scopus 로고    scopus 로고
    • Centronuclear myopathies: a widening concept
    • Romero N.B. Centronuclear myopathies: a widening concept. Neuromuscul Disord 2010, 20:223-228.
    • (2010) Neuromuscul Disord , vol.20 , pp. 223-228
    • Romero, N.B.1
  • 3
    • 78649591932 scopus 로고    scopus 로고
    • Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
    • Bohm J., Yis U., Ortac R., et al. Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation. Orphanet J Rare Dis 2010, 5:35.
    • (2010) Orphanet J Rare Dis , vol.5 , pp. 35
    • Bohm, J.1    Yis, U.2    Ortac, R.3
  • 4
    • 77950919875 scopus 로고    scopus 로고
    • Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy
    • Susman RD, Quijano-Roy S, Yang N, et al. Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 2010;20:229-37.
    • (2010) , vol.20 , pp. 229-237
    • Susman, R.D.1    Quijano-Roy, S.2    Yang, N.3
  • 5
    • 84865240323 scopus 로고    scopus 로고
    • Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
    • Bohm J., Biancalana V., Dechene E.T., et al. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012, 33:949-959.
    • (2012) Hum Mutat , vol.33 , pp. 949-959
    • Bohm, J.1    Biancalana, V.2    Dechene, E.T.3
  • 6
    • 84866538873 scopus 로고    scopus 로고
    • Clinical utility gene card for: centronuclear and myotubular myopathies
    • Biancalana V., Beggs A.H., Das S., et al. Clinical utility gene card for: centronuclear and myotubular myopathies. Eur J Hum Genet 2012, 20.
    • (2012) Eur J Hum Genet , vol.20
    • Biancalana, V.1    Beggs, A.H.2    Das, S.3
  • 7
    • 84863345557 scopus 로고    scopus 로고
    • Consensus statement on standard of care for congenital myopathies
    • Wang C.H., Dowling J.J., North K., et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol 2012, 27:363-382.
    • (2012) J Child Neurol , vol.27 , pp. 363-382
    • Wang, C.H.1    Dowling, J.J.2    North, K.3
  • 8
    • 79951792420 scopus 로고    scopus 로고
    • Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
    • Bevilacqua J.A., Monnier N., Bitoun M., et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol 2011, 37:271-284.
    • (2011) Neuropathol Appl Neurobiol , vol.37 , pp. 271-284
    • Bevilacqua, J.A.1    Monnier, N.2    Bitoun, M.3
  • 9
    • 78249290502 scopus 로고    scopus 로고
    • RYR1 mutations are a common cause of congenital myopathies with central nuclei
    • Wilmshurst J.M., Lillis S., Zhou H., et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010, 68:717-726.
    • (2010) Ann Neurol , vol.68 , pp. 717-726
    • Wilmshurst, J.M.1    Lillis, S.2    Zhou, H.3
  • 10
    • 84866548633 scopus 로고    scopus 로고
    • Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
    • Bohm J., Leshinsky-Silver E., Vassilopoulos S., et al. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol 2012, 124:575-581.
    • (2012) Acta Neuropathol , vol.124 , pp. 575-581
    • Bohm, J.1    Leshinsky-Silver, E.2    Vassilopoulos, S.3
  • 11
    • 84864940150 scopus 로고    scopus 로고
    • Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores
    • Majczenko K., Davidson A.E., Camelo-Piragua S., et al. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet 2012, 91:365-371.
    • (2012) Am J Hum Genet , vol.91 , pp. 365-371
    • Majczenko, K.1    Davidson, A.E.2    Camelo-Piragua, S.3
  • 12
    • 3342909622 scopus 로고    scopus 로고
    • Essential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast
    • Parrish W.R., Stefan C.J., Emr S.D. Essential role for the myotubularin-related phosphatase Ymr1p and the synaptojanin-like phosphatases Sjl2p and Sjl3p in regulation of phosphatidylinositol 3-phosphate in yeast. Mol Biol Cell 2004, 15:3567-3579.
    • (2004) Mol Biol Cell , vol.15 , pp. 3567-3579
    • Parrish, W.R.1    Stefan, C.J.2    Emr, S.D.3
  • 13
    • 84866158316 scopus 로고    scopus 로고
    • Phosphatidylinositol-3-phosphate clearance plays a key role in autophagosome completion
    • Cebollero E., van der Vaart A., Zhao M., et al. Phosphatidylinositol-3-phosphate clearance plays a key role in autophagosome completion. Curr Biol 2012, 22:1545-1553.
    • (2012) Curr Biol , vol.22 , pp. 1545-1553
    • Cebollero, E.1    van der Vaart, A.2    Zhao, M.3
  • 14
    • 0346099346 scopus 로고    scopus 로고
    • Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans
    • Dang H., Li Z., Skolnik E.Y., Fares H. Disease-related myotubularins function in endocytic traffic in Caenorhabditis elegans. Mol Biol Cell 2004, 15:189-196.
    • (2004) Mol Biol Cell , vol.15 , pp. 189-196
    • Dang, H.1    Li, Z.2    Skolnik, E.Y.3    Fares, H.4
  • 15
    • 72949117533 scopus 로고    scopus 로고
    • Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells
    • Zou W., Lu Q., Zhao D., et al. Caenorhabditis elegans myotubularin MTM-1 negatively regulates the engulfment of apoptotic cells. PLoS Genet 2009, 5:e1000679.
    • (2009) PLoS Genet , vol.5
    • Zou, W.1    Lu, Q.2    Zhao, D.3
  • 16
    • 79955552492 scopus 로고    scopus 로고
    • The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5-CED-12 in C. elegans
    • Neukomm L.J., Nicot A.S., Kinchen J.M., et al. The phosphoinositide phosphatase MTM-1 regulates apoptotic cell corpse clearance through CED-5-CED-12 in C. elegans. Development 2011, 138:2003-2014.
    • (2011) Development , vol.138 , pp. 2003-2014
    • Neukomm, L.J.1    Nicot, A.S.2    Kinchen, J.M.3
  • 17
    • 77955458776 scopus 로고    scopus 로고
    • Drosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions
    • Velichkova M., Juan J., Kadandale P., et al. Drosophila Mtm and class II PI3K coregulate a PI(3)P pool with cortical and endolysosomal functions. J Cell Biol 2010, 190:407-425.
    • (2010) J Cell Biol , vol.190 , pp. 407-425
    • Velichkova, M.1    Juan, J.2    Kadandale, P.3
  • 18
    • 61449203897 scopus 로고    scopus 로고
    • Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
    • Dowling J.J., Vreede A.P., Low S.E., et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009, 5:e1000372.
    • (2009) PLoS Genet , vol.5
    • Dowling, J.J.1    Vreede, A.P.2    Low, S.E.3
  • 19
    • 84878526600 scopus 로고    scopus 로고
    • Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy
    • Gibbs E.M., Clarke N.F., Rose K., et al. Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy. J Mol Med (Berl) 2013, 91:727-737.
    • (2013) J Mol Med (Berl) , vol.91 , pp. 727-737
    • Gibbs, E.M.1    Clarke, N.F.2    Rose, K.3
  • 20
    • 0037069371 scopus 로고    scopus 로고
    • The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
    • Buj-Bello A., Laugel V., Messaddeq N., et al. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci USA 2002, 99:15060-15065.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 15060-15065
    • Buj-Bello, A.1    Laugel, V.2    Messaddeq, N.3
  • 21
    • 78649471271 scopus 로고    scopus 로고
    • A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice
    • Durieux A.C., Vignaud A., Prudhon B., et al. A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice. Hum Mol Genet 2010, 19:4820-4836.
    • (2010) Hum Mol Genet , vol.19 , pp. 4820-4836
    • Durieux, A.C.1    Vignaud, A.2    Prudhon, B.3
  • 22
    • 84856350401 scopus 로고    scopus 로고
    • 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., et al. 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 2012, 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
  • 23
    • 84871879503 scopus 로고    scopus 로고
    • Defective autophagy and mTORC1 signaling in myotubularin null mice
    • Fetalvero K.M., Yu Y., Goetschkes M., et al. Defective autophagy and mTORC1 signaling in myotubularin null mice. Mol Cell Biol 2013, 33:98-110.
    • (2013) Mol Cell Biol , vol.33 , pp. 98-110
    • Fetalvero, K.M.1    Yu, Y.2    Goetschkes, M.3
  • 24
    • 77957067406 scopus 로고    scopus 로고
    • MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
    • Beggs A.H., Bohm J., Snead E., et al. MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci USA 2010, 107:14697-14702.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 14697-14702
    • Beggs, A.H.1    Bohm, J.2    Snead, E.3
  • 25
    • 73249136944 scopus 로고    scopus 로고
    • T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
    • Al-Qusairi L., Weiss N., Toussaint A., et al. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci USA 2009, 106:18763-18768.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 18763-18768
    • Al-Qusairi, L.1    Weiss, N.2    Toussaint, A.3
  • 26
    • 79956125843 scopus 로고    scopus 로고
    • Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
    • Robb S.A., Sewry C.A., Dowling J.J., et al. Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies. Neuromuscul Disord 2011, 21:379-386.
    • (2011) Neuromuscul Disord , vol.21 , pp. 379-386
    • Robb, S.A.1    Sewry, C.A.2    Dowling, J.J.3
  • 27
    • 84870051787 scopus 로고    scopus 로고
    • Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
    • Dowling J.J., Joubert R., Low S.E., et al. Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech 2012, 5:852-859.
    • (2012) Dis Model Mech , vol.5 , pp. 852-859
    • Dowling, J.J.1    Joubert, R.2    Low, S.E.3
  • 28
    • 84865267643 scopus 로고    scopus 로고
    • Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment
    • Lawlor M.W., Alexander M.S., Viola M.G., et al. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol 2012, 181:961-968.
    • (2012) Am J Pathol , vol.181 , pp. 961-968
    • Lawlor, M.W.1    Alexander, M.S.2    Viola, M.G.3
  • 29
    • 78650942651 scopus 로고    scopus 로고
    • Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
    • Hnia K., Tronchere H., Tomczak K.K., et al. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest 2011, 121:70-85.
    • (2011) J Clin Invest , vol.121 , pp. 70-85
    • Hnia, K.1    Tronchere, H.2    Tomczak, K.K.3
  • 30
    • 84881137026 scopus 로고    scopus 로고
    • Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways
    • Al-Qusairi L., Prokic I., Amoasii L., et al. Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J 2013, 27:3384-3394.
    • (2013) FASEB J , vol.27 , pp. 3384-3394
    • Al-Qusairi, L.1    Prokic, I.2    Amoasii, L.3
  • 32
    • 79451471885 scopus 로고    scopus 로고
    • Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
    • Toussaint A., Cowling B.S., Hnia K., et al. Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 2011, 121:253-266.
    • (2011) Acta Neuropathol , vol.121 , pp. 253-266
    • Toussaint, A.1    Cowling, B.S.2    Hnia, K.3
  • 33
    • 46249127073 scopus 로고    scopus 로고
    • 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., et al. 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 2008, 17:2132-2143.
    • (2008) Hum Mol Genet , vol.17 , pp. 2132-2143
    • Buj-Bello, A.1    Fougerousse, F.2    Schwab, Y.3
  • 34
    • 84875766052 scopus 로고    scopus 로고
    • Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
    • Lawlor M.W., Armstrong D., Viola M.G., et al. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet 2013, 22:1525-1538.
    • (2013) Hum Mol Genet , vol.22 , pp. 1525-1538
    • Lawlor, M.W.1    Armstrong, D.2    Viola, M.G.3
  • 35
    • 84876688412 scopus 로고    scopus 로고
    • Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database
    • Oliveira J., Oliveira M.E., Kress W., et al. Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database. Eur J Hum Genet 2013, 21:540-549.
    • (2013) Eur J Hum Genet , vol.21 , pp. 540-549
    • Oliveira, J.1    Oliveira, M.E.2    Kress, W.3
  • 36
    • 84888437324 scopus 로고    scopus 로고
    • Extensive morphological and immunohistochemical characterization in myotubular myopathy
    • Shichiji M., Biancalana V., Fardeau M., et al. Extensive morphological and immunohistochemical characterization in myotubular myopathy. Brain Behav 2013, 3:476-486.
    • (2013) Brain Behav , vol.3 , pp. 476-486
    • Shichiji, M.1    Biancalana, V.2    Fardeau, M.3
  • 37
    • 61349184337 scopus 로고    scopus 로고
    • "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
    • Bevilacqua JA, Bitoun M, Biancalana V, et al. "Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy. 2009;117:283-91.
    • (2009) , vol.117 , pp. 283-291
    • Bevilacqua, J.A.1    Bitoun, M.2    Biancalana, V.3
  • 38
    • 84859628621 scopus 로고    scopus 로고
    • X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10
    • Trump N., Cullup T., Verheij J.B., et al. X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10. Neuromuscul Disord 2012, 22:384-388.
    • (2012) Neuromuscul Disord , vol.22 , pp. 384-388
    • Trump, N.1    Cullup, T.2    Verheij, J.B.3
  • 39
    • 85027946146 scopus 로고    scopus 로고
    • Large duplication in MTM1 associated with myotubular myopathy
    • Amburgey K., Lawlor M.W., Del Gaudio D., et al. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord 2013, 23:214-218.
    • (2013) Neuromuscul Disord , vol.23 , pp. 214-218
    • Amburgey, K.1    Lawlor, M.W.2    Del Gaudio, D.3
  • 40
    • 84862023176 scopus 로고    scopus 로고
    • Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2
    • Mori-Yoshimura M., Okuma A., Oya Y., et al. Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2. Clin Neurol Neurosurg 2012, 114:678-683.
    • (2012) Clin Neurol Neurosurg , vol.114 , pp. 678-683
    • Mori-Yoshimura, M.1    Okuma, A.2    Oya, Y.3
  • 41
    • 85013250259 scopus 로고    scopus 로고
    • Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort
    • Catteruccia M., Fattori F., Codemo V., et al. Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort. Neuromuscul Disord 2013, 23:229-238.
    • (2013) Neuromuscul Disord , vol.23 , pp. 229-238
    • Catteruccia, M.1    Fattori, F.2    Codemo, V.3
  • 42
    • 85027945738 scopus 로고    scopus 로고
    • A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy
    • Kierdaszuk B., Berdynski M., Karolczak J., Redowicz M.J., Zekanowski C., Kaminska A.M. A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy. Neuromuscul Disord 2013, 23:219-228.
    • (2013) Neuromuscul Disord , vol.23 , pp. 219-228
    • Kierdaszuk, B.1    Berdynski, M.2    Karolczak, J.3    Redowicz, M.J.4    Zekanowski, C.5    Kaminska, A.M.6
  • 43
    • 37849052426 scopus 로고    scopus 로고
    • Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
    • Bitoun M., Bevilacqua J.A., Prudhon B., et al. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset. Ann Neurol 2007, 62:666-670.
    • (2007) Ann Neurol , vol.62 , pp. 666-670
    • Bitoun, M.1    Bevilacqua, J.A.2    Prudhon, B.3
  • 44
    • 27644543614 scopus 로고    scopus 로고
    • Mutations in dynamin 2 cause dominant centronuclear myopathy
    • Bitoun M., Maugenre S., Jeannet P.Y., et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005, 37:1207-1209.
    • (2005) Nat Genet , vol.37 , pp. 1207-1209
    • Bitoun, M.1    Maugenre, S.2    Jeannet, P.Y.3
  • 45
    • 84885910544 scopus 로고    scopus 로고
    • Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome
    • Koutsopoulos O.S., Kretz C., Weller C.M., et al. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet 2013, 21:637-642.
    • (2013) Eur J Hum Genet , vol.21 , pp. 637-642
    • Koutsopoulos, O.S.1    Kretz, C.2    Weller, C.M.3
  • 46
    • 34548341774 scopus 로고    scopus 로고
    • Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
    • Nicot A.S., Toussaint A., Tosch V., et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007, 39:1134-1139.
    • (2007) Nat Genet , vol.39 , pp. 1134-1139
    • Nicot, A.S.1    Toussaint, A.2    Tosch, V.3
  • 47
    • 76649142079 scopus 로고    scopus 로고
    • Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation
    • Claeys K.G., Maisonobe T., Bohm J., et al. Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. Neurology 2010, 74:519-521.
    • (2010) Neurology , vol.74 , pp. 519-521
    • Claeys, K.G.1    Maisonobe, T.2    Bohm, J.3
  • 48
    • 0032986873 scopus 로고    scopus 로고
    • Medical complications in long-term survivors with X-linked myotubular myopathy
    • Herman G.E., Finegold M., Zhao W., de Gouyon B., Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. J Pediatr 1999, 134:206-214.
    • (1999) J Pediatr , vol.134 , pp. 206-214
    • Herman, G.E.1    Finegold, M.2    Zhao, W.3    de Gouyon, B.4    Metzenberg, A.5
  • 50
    • 84879419050 scopus 로고    scopus 로고
    • RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling
    • Zhou H., Rokach O., Feng L., et al. RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling. Hum Mutat 2013, 34:986-996.
    • (2013) Hum Mutat , vol.34 , pp. 986-996
    • Zhou, H.1    Rokach, O.2    Feng, L.3
  • 51
    • 84879469075 scopus 로고    scopus 로고
    • An integrated diagnosis strategy for congenital myopathies
    • Bohm J., Vasli N., Malfatti E., et al. An integrated diagnosis strategy for congenital myopathies. PLoS One 2013, 8:e67527.
    • (2013) PLoS One , vol.8
    • Bohm, J.1    Vasli, N.2    Malfatti, E.3
  • 52
    • 84886409449 scopus 로고    scopus 로고
    • Recessive truncating titin gene (TTN) mutations in patients presenting with centronuclear myopathy
    • in press
    • Ceyhan O, Agrawal P, Hidalgo C, et al. Recessive truncating titin gene (TTN) mutations in patients presenting with centronuclear myopathy. Neurology 2013; in press.
    • (2013) Neurology
    • Ceyhan, O.1    Agrawal, P.2    Hidalgo, C.3
  • 53
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman D.S., Lam L., Taylor M.R., et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012, 366:619-628.
    • (2012) N Engl J Med , vol.366 , pp. 619-628
    • Herman, D.S.1    Lam, L.2    Taylor, M.R.3
  • 54
    • 84860915944 scopus 로고    scopus 로고
    • A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice
    • Durieux A.C., Vassilopoulos S., Laine J., et al. A centronuclear myopathy-dynamin 2 mutation impairs autophagy in mice. Traffic 2012, 13:869-879.
    • (2012) Traffic , vol.13 , pp. 869-879
    • Durieux, A.C.1    Vassilopoulos, S.2    Laine, J.3
  • 55
    • 77954164144 scopus 로고    scopus 로고
    • Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy
    • Dowling J.J., Low S.E., Busta A.S., Feldman E.L. Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy. Hum Mol Genet 2010, 19:2668-2681.
    • (2010) Hum Mol Genet , vol.19 , pp. 2668-2681
    • Dowling, J.J.1    Low, S.E.2    Busta, A.S.3    Feldman, E.L.4
  • 56
    • 84873893626 scopus 로고    scopus 로고
    • Two dynamin-2 genes are required for normal zebrafish development
    • Gibbs E.M., Davidson A.E., Trickey-Glassman A., et al. Two dynamin-2 genes are required for normal zebrafish development. PLoS One 2013, 8:e55888.
    • (2013) PLoS One , vol.8
    • Gibbs, E.M.1    Davidson, A.E.2    Trickey-Glassman, A.3
  • 57
    • 34548148904 scopus 로고    scopus 로고
    • Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease
    • Hirata H., Watanabe T., Hatakeyama J., et al. Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease. Development 2007, 134:2771-2781.
    • (2007) Development , vol.134 , pp. 2771-2781
    • Hirata, H.1    Watanabe, T.2    Hatakeyama, J.3
  • 58
    • 84860156013 scopus 로고    scopus 로고
    • Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy
    • Dowling J.J., Arbogast S., Hur J., et al. Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy. Brain 2012, 135:1115-1127.
    • (2012) Brain , vol.135 , pp. 1115-1127
    • Dowling, J.J.1    Arbogast, S.2    Hur, J.3
  • 59
    • 84875913991 scopus 로고    scopus 로고
    • Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
    • Joubert R., Vignaud A., Le M., Moal C., Messaddeq N., Buj-Bello A. Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle. Hum Mol Genet 2013, 22:1856-1866.
    • (2013) Hum Mol Genet , vol.22 , pp. 1856-1866
    • Joubert, R.1    Vignaud, A.2    Le, M.3    Moal, C.4    Messaddeq, N.5    Buj-Bello, A.6
  • 60
    • 20444433182 scopus 로고    scopus 로고
    • SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
    • Pele M., Tiret L., Kessler J.L., Blot S., Panthier J.J. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 2005, 14:1417-1427.
    • (2005) Hum Mol Genet , vol.14 , pp. 1417-1427
    • Pele, M.1    Tiret, L.2    Kessler, J.L.3    Blot, S.4    Panthier, J.J.5
  • 61
    • 84867150505 scopus 로고    scopus 로고
    • Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide
    • Maurer M., Mary J., Guillaud L., et al. Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 2012, 7:e46408.
    • (2012) PLoS One , vol.7
    • Maurer, M.1    Mary, J.2    Guillaud, L.3
  • 62
    • 84879644456 scopus 로고    scopus 로고
    • Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy
    • Bohm J., Vasli N., Maurer M., et al. Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. PLoS Genet 2013, 9:e1003430.
    • (2013) PLoS Genet , vol.9
    • Bohm, J.1    Vasli, N.2    Maurer, M.3
  • 65
    • 84868135058 scopus 로고    scopus 로고
    • Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice
    • Amoasii L., Bertazzi D.L., Tronchere H., et al. Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. PLoS Genet 2012, 8:e1002965.
    • (2012) PLoS Genet , vol.8
    • Amoasii, L.1    Bertazzi, D.L.2    Tronchere, H.3
  • 66
    • 84877945718 scopus 로고    scopus 로고
    • Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo
    • Amoasii L., Hnia K., Chicanne G., et al. Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo. J Cell Sci 2013, 126:1806-1819.
    • (2013) J Cell Sci , vol.126 , pp. 1806-1819
    • Amoasii, L.1    Hnia, K.2    Chicanne, G.3
  • 67
    • 84879650126 scopus 로고    scopus 로고
    • Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish
    • Gupta V.A., Hnia K., Smith L.L., et al. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. PLoS Genet 2013, 9:e1003583.
    • (2013) PLoS Genet , vol.9
    • Gupta, V.A.1    Hnia, K.2    Smith, L.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.