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Volumn 15, Issue 2, 2013, Pages 405-419

Neuromuscular disorders in zebrafish: State of the art and future perspectives

Author keywords

Animal model; Neuromuscular disorders; Pathogenesis; Zebrafish

Indexed keywords

BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; CHOLINERGIC RECEPTOR; CHOLINESTERASE INHIBITOR; DOCKING 7 PROTEIN; DOCKING PROTEIN; DYSFERLIN; DYSTROGLYCAN; PHOSPHODIESTERASE V INHIBITOR; PROGRANULIN; RAPSYN; SILDENAFIL; SURVIVAL MOTOR NEURON PROTEIN 1; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 4;

EID: 84877758433     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-013-8228-z     Document Type: Review
Times cited : (11)

References (138)
  • 4
    • 0033581949 scopus 로고    scopus 로고
    • The fukutin protein family-predicted enzymes modifying cell-surface molecules
    • 10.1016/S0960-9822(00)80039-1
    • Aravind, L.; & Koonin, E. V. (1999). The fukutin protein family-predicted enzymes modifying cell-surface molecules. Current Biology, 9, 836-837.
    • (1999) Current Biology , vol.9 , pp. 836-837
    • Aravind, L.1    Koonin, E.V.2
  • 5
    • 33644868704 scopus 로고    scopus 로고
    • Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment
    • 16192300 1:CAS:528:DC%2BD28XhsFKhs7g%3D 10.1152/ajpcell.00434.2005
    • Assereto, S.; Stringara, S.; Sotgia, F.; Bonuccelli, G.; Broccolini, A.; Pedemonte, M.; et al. (2006). Pharmacological rescue of the dystrophin- glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment. American Journal of Physiology Cell Physiology, 290, C577-C582.
    • (2006) American Journal of Physiology Cell Physiology , vol.290
    • Assereto, S.1    Stringara, S.2    Sotgia, F.3    Bonuccelli, G.4    Broccolini, A.5    Pedemonte, M.6
  • 6
    • 75749129360 scopus 로고    scopus 로고
    • Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
    • 20037588 1:CAS:528:DC%2BD1MXhs1SktbvL 10.1038/ng.508
    • Auer-Grumbach, M.; Olschewski, A.; Papic, L.; Kremer, H.; McEntagart, M. E.; Uhrig, S.; et al. (2010). Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genetics, 42, 160-164.
    • (2010) Nature Genetics , vol.42 , pp. 160-164
    • Auer-Grumbach, M.1    Olschewski, A.2    Papic, L.3    Kremer, H.4    McEntagart, M.E.5    Uhrig, S.6
  • 7
    • 77955451949 scopus 로고    scopus 로고
    • Protein O-mannosylation is necessary for normal embryonic development in zebrafish
    • 20466645 10.1093/glycob/cwq069 1:CAS:528:DC%2BC3cXpvFSqt78%3D
    • Avşar-Ban, E.; Ishikawa, H.; Manya, H.; Watanabe, M.; Akiyama, S.; Miyake, H.; et al. (2010). Protein O-mannosylation is necessary for normal embryonic development in zebrafish. Glycobiology, 20, 1089-1102.
    • (2010) Glycobiology , vol.20 , pp. 1089-1102
    • Avşar-Ban, E.1    Ishikawa, H.2    Manya, H.3    Watanabe, M.4    Akiyama, S.5    Miyake, H.6
  • 8
    • 67651207673 scopus 로고    scopus 로고
    • ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor
    • 19487464 1:CAS:528:DC%2BD1MXptFehtro%3D 10.1128/MCB.00056-09
    • Bai, X. H.; Wang, D. W.; Kong, L.; Zhang, Y.; Luan, Y.; Kobayashi, T.; et al. (2009). ADAMTS-7, a direct target of PTHrP, adversely regulates endochondral bone growth by associating with and inactivating GEP growth factor. Molecular and Cellular Biology, 29, 4201-4219.
    • (2009) Molecular and Cellular Biology , vol.29 , pp. 4201-4219
    • Bai, X.H.1    Wang, D.W.2    Kong, L.3    Zhang, Y.4    Luan, Y.5    Kobayashi, T.6
  • 9
    • 0035941407 scopus 로고    scopus 로고
    • The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system
    • 11717165 1:CAS:528:DC%2BD3MXovFGhsLs%3D 10.1161/hh2301.100981
    • Bang, M. L.; Centner, T.; Fornoff, F.; Geach, A. J.; Gotthardt, M.; McNabb, M.; et al. (2001). The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circulation Research, 89, 1065-1072.
    • (2001) Circulation Research , vol.89 , pp. 1065-1072
    • Bang, M.L.1    Centner, T.2    Fornoff, F.3    Geach, A.J.4    Gotthardt, M.5    McNabb, M.6
  • 10
    • 0037738510 scopus 로고    scopus 로고
    • Defective membrane repair in dysferlin deficient muscular dystrophy
    • 12736685 1:CAS:528:DC%2BD3sXjsVOrt7c%3D 10.1038/nature01573
    • Bansal, D.; Miyake, K.; Vogel, S. S.; Groh, S.; Chen, C. C.; Williamson, R.; et al. (2003). Defective membrane repair in dysferlin deficient muscular dystrophy. Nature, 423, 168-172.
    • (2003) Nature , vol.423 , pp. 168-172
    • Bansal, D.1    Miyake, K.2    Vogel, S.S.3    Groh, S.4    Chen, C.C.5    Williamson, R.6
  • 11
    • 79955465278 scopus 로고    scopus 로고
    • Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
    • 21498094 10.1016/j.ejpn.2011.03.006
    • Barišić, N.; Chaouch, A.; Müller, J. S.; Lochmüller, H. (2011). Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes. European Journal of Paediatric Neurology, 15, 189-196
    • (2011) European Journal of Paediatric Neurology , vol.15 , pp. 189-196
    • Barišić, N.1    Chaouch, A.2    Müller, J.S.3    Lochmüller, H.4
  • 12
    • 84867904131 scopus 로고    scopus 로고
    • DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
    • 23109149 1:CAS:528:DC%2BC38Xhs1Shsb3L 10.1002/ana.23632
    • Barone, R.; Aiello, C.; Race, V.; Morava, E.; Foulquier, F.; Riemersma, M.; et al. (2012). DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Annals of Neurology, 72, 550-558.
    • (2012) Annals of Neurology , vol.72 , pp. 550-558
    • Barone, R.1    Aiello, C.2    Race, V.3    Morava, E.4    Foulquier, F.5    Riemersma, M.6
  • 13
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • 9731527 1:CAS:528:DyaK1cXmtVOmt7Y%3D 10.1038/1689
    • Bashir, R.; Britton, S.; Strachan, T.; Keers, S.; Vafiadaki, E.; Lako, M.; et al. (1998). A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics, 20, 37-42.
    • (1998) Nature Genetics , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3    Keers, S.4    Vafiadaki, E.5    Lako, M.6
  • 14
    • 0141886430 scopus 로고    scopus 로고
    • Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo
    • 14573513 1:CAS:528:DC%2BD3sXpvV2htLw%3D 10.1242/dev.00799
    • Bassett, D. I.; Bryson-Richardson, R. J.; Daggett, D. F.; Gautier, P.; Keenan, D. G.; & Currie, P. D. (2003). Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo. Development, 130, 5851-5860.
    • (2003) Development , vol.130 , pp. 5851-5860
    • Bassett, D.I.1    Bryson-Richardson, R.J.2    Daggett, D.F.3    Gautier, P.4    Keenan, D.G.5    Currie, P.D.6
  • 15
    • 4143130939 scopus 로고    scopus 로고
    • Identification of a zebrafish model of muscular dystrophy
    • 15298547 1:CAS:528:DC%2BD2cXntFeis7g%3D 10.1111/j.1440-1681.2004.04030.x
    • Bassett, D.; & Currie, P. D. (2004). Identification of a zebrafish model of muscular dystrophy. Clinical and Experimental Pharmacology and Physiology, 31, 537-540.
    • (2004) Clinical and Experimental Pharmacology and Physiology , vol.31 , pp. 537-540
    • Bassett, D.1    Currie, P.D.2
  • 16
    • 70549109118 scopus 로고    scopus 로고
    • The granulin gene family: From cancer to dementia
    • 19795409 1:CAS:528:DC%2BD1MXhsFSqurnP 10.1002/bies.200900086
    • Bateman, A.; & Bennett, H. P. (2009). The granulin gene family: From cancer to dementia. BioEssays, 31, 1245-1254.
    • (2009) BioEssays , vol.31 , pp. 1245-1254
    • Bateman, A.1    Bennett, H.P.2
  • 17
    • 34548164132 scopus 로고    scopus 로고
    • Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy
    • 17761655 10.1177/0883073807305671
    • Beattie, C. E.; Carrel, T. L.; & McWhorter, M. L. (2007). Fishing for a mechanism: Using zebrafish to understand spinal muscular atrophy. Journal of Child Neurology, 22, 995-1003.
    • (2007) Journal of Child Neurology , vol.22 , pp. 995-1003
    • Beattie, C.E.1    Carrel, T.L.2    McWhorter, M.L.3
  • 18
    • 0034333146 scopus 로고    scopus 로고
    • Integrins as receptor for laminins
    • 11054877 1:CAS:528:DC%2BD3cXot1Sntrg%3D 10.1002/1097-0029(20001101)51: 3<280: AID-JEMT7>3.0.CO;2-O
    • Belkin, A. M.; & Stepp, M. A. (2000). Integrins as receptor for laminins. Microscopy Research and Technique, 51(3), 280-301.
    • (2000) Microscopy Research and Technique , vol.51 , Issue.3 , pp. 280-301
    • Belkin, A.M.1    Stepp, M.A.2
  • 19
    • 84869206683 scopus 로고    scopus 로고
    • Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
    • 22549409 1:CAS:528:DC%2BC38Xhs12itLzM 10.1038/ejhg.2012.71
    • Bello, L.; Melacini, P.; Pezzani, R.; D'Amico, A.; Piva, L.; Leopardi, E.; et al. (2012). Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. European Journal of Human Genetics, 20, 1234-1239.
    • (2012) European Journal of Human Genetics , vol.20 , pp. 1234-1239
    • Bello, L.1    Melacini, P.2    Pezzani, R.3    D'Amico, A.4    Piva, L.5    Leopardi, E.6
  • 21
    • 0026580016 scopus 로고
    • Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains
    • 1542665 1:CAS:528:DyaK3sXhvV2ltrg%3D 10.1073/pnas.89.5.1715
    • Bhandari, V.; Palfree, R. G.; & Bateman, A. (1992). Isolation and sequence of the granulin precursor cDNA from human bone marrow reveals tandem cysteine-rich granulin domains. Proceedings of the National Academy of Sciences of the United States of America, 89, 1715-1719.
    • (1992) Proceedings of the National Academy of Sciences of the United States of America , vol.89 , pp. 1715-1719
    • Bhandari, V.1    Palfree, R.G.2    Bateman, A.3
  • 23
    • 72149110399 scopus 로고    scopus 로고
    • Breaking the code of DNA binding specificity of TAL-type III effectors
    • 19933107 1:CAS:528:DC%2BD1MXhsFensbnL 10.1126/science.1178811
    • Boch, J.; Scholze, H.; Schornack, S.; Landgraf, A.; Hahn, S.; Kay, S.; et al. (2009). Breaking the code of DNA binding specificity of TAL-type III effectors. Science, 326, 1509-1512.
    • (2009) Science , vol.326 , pp. 1509-1512
    • Boch, J.1    Scholze, H.2    Schornack, S.3    Landgraf, A.4    Hahn, S.5    Kay, S.6
  • 24
    • 0035934298 scopus 로고    scopus 로고
    • Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish
    • 11675014 1:CAS:528:DC%2BD3MXms1GrsbY%3D 10.1016/S0378-1119(01)00606-0
    • Bolanos-Jimenez, F.; Bordais, A.; Behra, M.; Strahle, U.; Mornet, D.; Sahel, J.; et al. (2001). Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish. Gene, 274, 217-226.
    • (2001) Gene , vol.274 , pp. 217-226
    • Bolanos-Jimenez, F.1    Bordais, A.2    Behra, M.3    Strahle, U.4    Mornet, D.5    Sahel, J.6
  • 25
    • 0141760313 scopus 로고    scopus 로고
    • Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins
    • 14507673 1:CAS:528:DC%2BD3sXotlegtLc%3D 10.1016/S0002-9440(10)63523-7
    • Bonuccelli, G.; Sotgia, F.; Schubert, W.; Park, D. S.; Frank, P. G.; Woodman, S. E.; et al. (2003). Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins. American Journal of Pathology, 163, 1663-1675.
    • (2003) American Journal of Pathology , vol.163 , pp. 1663-1675
    • Bonuccelli, G.1    Sotgia, F.2    Schubert, W.3    Park, D.S.4    Frank, P.G.5    Woodman, S.E.6
  • 26
    • 70350754456 scopus 로고    scopus 로고
    • Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects
    • 19592581 1:CAS:528:DC%2BD1MXhtFagsbjE 10.1093/hmg/ddp310
    • Boon, K. L.; Xiao, S.; McWhorter, M. L.; Donn, T.; Wolf-Saxon, E.; Bohnsack, M. T.; et al. (2009). Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects. Human Molecular Genetics, 18, 3615-3625.
    • (2009) Human Molecular Genetics , vol.18 , pp. 3615-3625
    • Boon, K.L.1    Xiao, S.2    McWhorter, M.L.3    Donn, T.4    Wolf-Saxon, E.5    Bohnsack, M.T.6
  • 27
    • 18244375299 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    • 11741828 1:CAS:528:DC%2BD38XjtVegsQ%3D%3D 10.1093/hmg/10.25.2851
    • Brockington, M.; Yuva, Y.; Prandini, P.; Brown, S. C.; Torelli, S.; Benson, M. A.; et al. (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics, 10, 2851-2859.
    • (2001) Human Molecular Genetics , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3    Brown, S.C.4    Torelli, S.5    Benson, M.A.6
  • 28
    • 84862226445 scopus 로고    scopus 로고
    • Dystroglycan and dystroglycanopathies: Report of the 187th ENMC Workshop 11-13 November 2011, Naarden, the Netherlands
    • 22437172 10.1016/j.nmd.2012.02.006
    • Brown, S. C.; & Winder, S. J. (2012). Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands. Neuromuscular Disorders, 22, 659-668.
    • (2012) Neuromuscular Disorders , vol.22 , pp. 659-668
    • Brown, S.C.1    Winder, S.J.2
  • 29
    • 0025260440 scopus 로고
    • Genetic mapping of chronic childhood onset spinal muscular atrophy to chromosome 5q11.2-13.3
    • 2320125 1:CAS:528:DyaK3cXhvFeis7w%3D 10.1038/344540a0
    • Brzustowicz, L. M.; Lehner, T.; Castilla, L. H.; Penchaszadeh, G. K.; Wilhelmsen, K. C.; Daniels, R.; et al. (1990). Genetic mapping of chronic childhood onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature, 344, 540-541.
    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowicz, L.M.1    Lehner, T.2    Castilla, L.H.3    Penchaszadeh, G.K.4    Wilhelmsen, K.C.5    Daniels, R.6
  • 30
    • 84866072998 scopus 로고    scopus 로고
    • Highly efficient generation of heritable zebrafish gene mutations using homo- and heterodimeric TALENs
    • 22684503 1:CAS:528:DC%2BC38XhtlKltrjP 10.1093/nar/gks518
    • Cade, L.; Reyon, D.; Hwang, W. Y.; Tsai, S. Q.; Patel, S.; Khayter, C.; et al. (2012). Highly efficient generation of heritable zebrafish gene mutations using homo- and heterodimeric TALENs. Nucleic Acids Research, 40, 8001-8010.
    • (2012) Nucleic Acids Research , vol.40 , pp. 8001-8010
    • Cade, L.1    Reyon, D.2    Hwang, W.Y.3    Tsai, S.Q.4    Patel, S.5    Khayter, C.6
  • 31
    • 33751100104 scopus 로고    scopus 로고
    • Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis
    • 1:CAS:528:DC%2BD28XhtFymsLjL 10.1523/JNEUROSCI.1637-06.2006
    • Carrel, T. L.; McWhorter, M. L.; Workman, E.; Zhang, H.; Wolstencroft, E. C.; Lorson, C.; et al. (2006). Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. J of Neuroscience, 26, 11014-11022.
    • (2006) J of Neuroscience , vol.26 , pp. 11014-11022
    • Carrel, T.L.1    McWhorter, M.L.2    Workman, E.3    Zhang, H.4    Wolstencroft, E.C.5    Lorson, C.6
  • 33
    • 33646183010 scopus 로고    scopus 로고
    • Delta-sarcoglycan is necessary for early heart and muscle development in zebrafish
    • 16650823 1:CAS:528:DC%2BD28XksVOisr8%3D 10.1016/j.bbrc.2006.03.234
    • Cheng, L.; Guo, X.; Yang, X.; Chong, M.; Cheng, J.; Li, G.; et al. (2006). Delta-sarcoglycan is necessary for early heart and muscle development in zebrafish. Biochemical and Biophysical Research Communications, 344, 1290-1299.
    • (2006) Biochemical and Biophysical Research Communications , vol.344 , pp. 1290-1299
    • Cheng, L.1    Guo, X.2    Yang, X.3    Chong, M.4    Cheng, J.5    Li, G.6
  • 34
    • 77957818067 scopus 로고    scopus 로고
    • Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1
    • 20946666 10.1186/1750-1326-5-41 1:CAS:528:DC%2BC3cXhtlamsbbF
    • Chitramuthu, B. P.; Baranowski, D. C.; Kay, D. G.; Bateman, A.; & Bennett, H. P. J. (2010). Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1. Molecular Neurodegeneration, 5, 41.
    • (2010) Molecular Neurodegeneration , vol.5 , pp. 41
    • Chitramuthu, B.P.1    Baranowski, D.C.2    Kay, D.G.3    Bateman, A.4    Bennett, H.P.J.5
  • 35
    • 80053022290 scopus 로고    scopus 로고
    • A TALE of two nucleases: Gene targeting for the masses?
    • 21929364 1:CAS:528:DC%2BC3MXhtF2qs7rI 10.1089/zeb.2011.9993
    • Clark, K. J.; Voytas, D. F.; & Ekker, S. C. (2011). A TALE of two nucleases: Gene targeting for the masses? Zebrafish, 8, 147-149.
    • (2011) Zebrafish , vol.8 , pp. 147-149
    • Clark, K.J.1    Voytas, D.F.2    Ekker, S.C.3
  • 36
    • 52049107394 scopus 로고    scopus 로고
    • TRPs in our senses
    • 18812089 1:CAS:528:DC%2BD1cXhtFCksbrI 10.1016/j.cub.2008.07.063
    • Damann, N.; Voets, T.; & Nilius, B. (2008). TRPs in our senses. Current Biology, 18, R880-R889.
    • (2008) Current Biology , vol.18
    • Damann, N.1    Voets, T.2    Nilius, B.3
  • 37
    • 0042635680 scopus 로고    scopus 로고
    • Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development
    • 12889069 1:CAS:528:DC%2BD3sXntVyhsLw%3D 10.1002/dvdy.10341
    • Daniel, R.; Daniels, E.; He, Z.; & Bateman, A. (2003). Progranulin (acrogranin/PC cell-derived growth factor/granulin-epithelin precursor) is expressed in the placenta, epidermis, microvasculature, and brain during murine development. Developmental Dynamics, 227, 593-599.
    • (2003) Developmental Dynamics , vol.227 , pp. 593-599
    • Daniel, R.1    Daniels, E.2    He, Z.3    Bateman, A.4
  • 38
    • 50249088777 scopus 로고    scopus 로고
    • Spatiotemporal expression pattern of progranulin in embryo implantation and placenta formation suggests a role in cell proliferation, remodeling, and angiogenesis
    • 18469036 1:CAS:528:DC%2BD1cXhtVGqtbfN 10.1530/REP-08-0044
    • Desmarais, J. A.; Cao, M.; Bateman, A.; & Murphy, B. D. (2008). Spatiotemporal expression pattern of progranulin in embryo implantation and placenta formation suggests a role in cell proliferation, remodeling, and angiogenesis. Reproduction, 136, 247-257.
    • (2008) Reproduction , vol.136 , pp. 247-257
    • Desmarais, J.A.1    Cao, M.2    Bateman, A.3    Murphy, B.D.4
  • 40
    • 0035668932 scopus 로고    scopus 로고
    • The influence of growth factors on the development of preimplantation mammalian embryos
    • 11750739 1:CAS:528:DC%2BD38XltVenug%3D%3D 10.1016/S0188-4409(01)00326-5
    • Diaz-Cueto, L.; & Gerton, G. L. (2001). The influence of growth factors on the development of preimplantation mammalian embryos. Archives of Medical Research, 32, 619-626.
    • (2001) Archives of Medical Research , vol.32 , pp. 619-626
    • Diaz-Cueto, L.1    Gerton, G.L.2
  • 41
    • 0036591684 scopus 로고    scopus 로고
    • Muscular dystrophies involving the dystrophin-glycoprotein complex: An overview of current mouse models
    • 12076680 1:CAS:528:DC%2BD38XktFShsrw%3D 10.1016/S0959-437X(02)00309-X
    • Durbeej, M.; & Campbell, K. P. (2002). Muscular dystrophies involving the dystrophin-glycoprotein complex: An overview of current mouse models. Current Opinion in Genetics and Development, 12, 349-361.
    • (2002) Current Opinion in Genetics and Development , vol.12 , pp. 349-361
    • Durbeej, M.1    Campbell, K.P.2
  • 42
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases: A world survey
    • 1822774 1:STN:280:DyaK38zltlKktw%3D%3D 10.1016/0960-8966(91)90039-U
    • Emery, A. E. (1991). Population frequencies of inherited neuromuscular diseases: A world survey. Neuromuscular Disorders, 1, 19-29.
    • (1991) Neuromuscular Disorders , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 43
    • 84857328859 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes in 2012
    • 21997714 10.1007/s11910-011-0234-7
    • Engel, A. G. (2012). Congenital myasthenic syndromes in 2012. Current Neurology and Neuroscience Reports, 12, 92-101.
    • (2012) Current Neurology and Neuroscience Reports , vol.12 , pp. 92-101
    • Engel, A.G.1
  • 44
    • 18744401389 scopus 로고    scopus 로고
    • Current understanding of congenital myasthenic syndromes
    • 15907919 1:CAS:528:DC%2BD2MXktlejtbY%3D 10.1016/j.coph.2004.12.007
    • Engel, A. G.; & Sine, S. M. (2005). Current understanding of congenital myasthenic syndromes. Current Opinion in Pharmacology, 5, 308-321.
    • (2005) Current Opinion in Pharmacology , vol.5 , pp. 308-321
    • Engel, A.G.1    Sine, S.M.2
  • 45
  • 46
    • 84875781557 scopus 로고    scopus 로고
    • Congenital myasthenic syndromes: An update
    • 23468559 10.1136/practneurol-2012-000404
    • Finlayson, S.; Beeson, D.; & Palace, J. (2013). Congenital myasthenic syndromes: An update. Practical Neurology, 13, 80-91.
    • (2013) Practical Neurology , vol.13 , pp. 80-91
    • Finlayson, S.1    Beeson, D.2    Palace, J.3
  • 47
    • 84865000128 scopus 로고    scopus 로고
    • TRPV4 mutations in children with congenital distal spinal muscular atrophy
    • 22526352 1:CAS:528:DC%2BC38Xht1SktrrM 10.1007/s10048-012-0328-7
    • Fiorillo, C.; Moro, F.; Brisca, G.; Astrea, G.; Nesti, C.; Bálint, Z.; et al. (2012). TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics, 13(3), 195-203.
    • (2012) Neurogenetics , vol.13 , Issue.3 , pp. 195-203
    • Fiorillo, C.1    Moro, F.2    Brisca, G.3    Astrea, G.4    Nesti, C.5    Bálint, Z.6
  • 49
    • 0029050847 scopus 로고
    • Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
    • 7675108 1:CAS:528:DyaK2MXot1Gltbs%3D 10.1038/377232a0
    • Gautam, M.; Noakes, P. G.; Mudd, J.; Nichol, M.; Chu, G. C.; Sanes, J. R.; et al. (1995). Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice. Nature, 377, 232-236.
    • (1995) Nature , vol.377 , pp. 232-236
    • Gautam, M.1    Noakes, P.G.2    Mudd, J.3    Nichol, M.4    Chu, G.C.5    Sanes, J.R.6
  • 50
    • 33845292617 scopus 로고    scopus 로고
    • Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy
    • 17044012 1:CAS:528:DC%2BD2sXkt1altw%3D%3D 10.1002/ana.21006
    • Godfrey, C.; Escolar, D.; Brockington, M.; Clement, E. M.; Mein, R.; Jimenez-Mallebrera, C.; et al. (2006). Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Annals of Neurology, 60, 603-610.
    • (2006) Annals of Neurology , vol.60 , pp. 603-610
    • Godfrey, C.1    Escolar, D.2    Brockington, M.3    Clement, E.M.4    Mein, R.5    Jimenez-Mallebrera, C.6
  • 52
    • 12644302205 scopus 로고    scopus 로고
    • Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva
    • 9007258 1:CAS:528:DyaK2sXhtVOrs7s%3D
    • Granato, M.; van Eeden, J. M. F.; Schach, U.; Trowe, T.; Brand, M.; Furutani-Seiki, M.; et al. (1996). Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. Development, 123, 399-413.
    • (1996) Development , vol.123 , pp. 399-413
    • Granato, M.1    Van Eeden, J.M.F.2    Schach, U.3    Trowe, T.4    Brand, M.5    Furutani-Seiki, M.6
  • 53
    • 0037137485 scopus 로고    scopus 로고
    • Mutation of large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy
    • 12417403 1:CAS:528:DC%2BD38Xotl2gsbY%3D 10.1016/S0304-4165(02)00387-2
    • Grewal, P. K.; & Hewitt, J. E. (2002). Mutation of large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy. Biochimica et Biophysica Acta, 1573, 216-224.
    • (2002) Biochimica et Biophysica Acta , vol.1573 , pp. 216-224
    • Grewal, P.K.1    Hewitt, J.E.2
  • 54
    • 0034975777 scopus 로고    scopus 로고
    • Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
    • 11381262 1:CAS:528:DC%2BD3MXktFOrtLg%3D 10.1038/88865
    • Grewal, P. K.; Holzfeind, P. J.; Bittner, R. E.; & Hewitt, J. E. (2001). Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse. Nature Genetics, 28, 151-154.
    • (2001) Nature Genetics , vol.28 , pp. 151-154
    • Grewal, P.K.1    Holzfeind, P.J.2    Bittner, R.E.3    Hewitt, J.E.4
  • 55
    • 27244440999 scopus 로고    scopus 로고
    • Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
    • 15958417 1:CAS:528:DC%2BD2MXhtVelsb%2FL 10.1093/glycob/cwi094
    • Grewal, P. K.; McLaughlan, J. M.; Moore, C. J.; Browning, C. A.; & Hewitt, J. E. (2005). Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. Glycobiology, 15, 912-923.
    • (2005) Glycobiology , vol.15 , pp. 912-923
    • Grewal, P.K.1    McLaughlan, J.M.2    Moore, C.J.3    Browning, C.A.4    Hewitt, J.E.5
  • 56
    • 28644439538 scopus 로고    scopus 로고
    • Strength at the extracellular matrix-muscle interface
    • 16293150 1:STN:280:DC%2BD2MnhsFOisQ%3D%3D 10.1111/j.1600-0838.2005.00467. x
    • Grounds, M.; Sorokin, L.; & White, J. (2005). Strength at the extracellular matrix-muscle interface. Scandinavian Journal of Medicine and Science in Sports, 15(6), 381-391.
    • (2005) Scandinavian Journal of Medicine and Science in Sports , vol.15 , Issue.6 , pp. 381-391
    • Grounds, M.1    Sorokin, L.2    White, J.3
  • 57
    • 79954523697 scopus 로고    scopus 로고
    • The zebrafish dag1 mutant: A novel genetic model for dystroglycanopathies
    • 21296866 1:CAS:528:DC%2BC3MXksFSkurg%3D 10.1093/hmg/ddr047
    • Gupta, V.; Kawahara, G.; Gundry, S. R.; Chen, A. T.; Lencer, W. I.; Zhou, Y.; et al. (2011). The zebrafish dag1 mutant: A novel genetic model for dystroglycanopathies. Human Molecular Genetics, 20, 1712-1725.
    • (2011) Human Molecular Genetics , vol.20 , pp. 1712-1725
    • Gupta, V.1    Kawahara, G.2    Gundry, S.R.3    Chen, A.T.4    Lencer, W.I.5    Zhou, Y.6
  • 58
    • 57649193108 scopus 로고    scopus 로고
    • Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin
    • 18957474 1:CAS:528:DC%2BD1cXhsV2lurvN 10.1093/hmg/ddn337
    • Guyon, J. R.; Goswami, J.; Jun, S. J.; Thorne, M.; Howell, M.; Pusack, T.; et al. (2009). Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Human Molecular Genetics, 18, 202-211.
    • (2009) Human Molecular Genetics , vol.18 , pp. 202-211
    • Guyon, J.R.1    Goswami, J.2    Jun, S.J.3    Thorne, M.4    Howell, M.5    Pusack, T.6
  • 59
    • 13544251544 scopus 로고    scopus 로고
    • Delta-sarcoglycan is required for early zebrafish muscle organization
    • 15707578 1:CAS:528:DC%2BD2MXhtFOmsLY%3D 10.1016/j.yexcr.2004.10.032
    • Guyon, J. R.; Mosley, A. N.; Jun, S. J.; Montanaro, F.; Steffen, L. S.; Zhou, Y.; et al. (2005). Delta-sarcoglycan is required for early zebrafish muscle organization. Experimental Cell Research, 304, 105-115.
    • (2005) Experimental Cell Research , vol.304 , pp. 105-115
    • Guyon, J.R.1    Mosley, A.N.2    Jun, S.J.3    Montanaro, F.4    Steffen, L.S.5    Zhou, Y.6
  • 60
  • 61
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
    • 12145747 1:CAS:528:DC%2BD38XmvFOhtLs%3D 10.1086/342380
    • Hackman, P.; Vihola, A.; Haravuori, H.; Marchand, S.; Sarparanta, J.; De Seze, J.; et al. (2002). Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. American Journal of Human Genetics, 71, 492-500.
    • (2002) American Journal of Human Genetics , vol.71 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3    Marchand, S.4    Sarparanta, J.5    De Seze, J.6
  • 63
    • 78650406074 scopus 로고    scopus 로고
    • Generation of a non-leaky heat shock-inducible Cre line for conditional Cre/lox strategies in zebrafish
    • 21117149 1:CAS:528:DC%2BC3MXhsVehsrs%3D 10.1002/dvdy.22497
    • Hans, S.; Freudenreich, D.; Geffarth, M.; Kaslin, J.; Machate, A.; & Brand, M. (2011). Generation of a non-leaky heat shock-inducible Cre line for conditional Cre/lox strategies in zebrafish. Developmental Dynamics, 240, 108-115.
    • (2011) Developmental Dynamics , vol.240 , pp. 108-115
    • Hans, S.1    Freudenreich, D.2    Geffarth, M.3    Kaslin, J.4    MacHate, A.5    Brand, M.6
  • 64
    • 79953121904 scopus 로고    scopus 로고
    • Generation and characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene
    • 1:CAS:528:DC%2BC3MXltFKltLo%3D 10.1186/1750-1326-6-24
    • Hao, L. T.; Burghes, A. H. M.; & Beattie, E. C. (2011). Generation and characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene. Molecular Neurodegeneration, 6, 24.
    • (2011) Molecular Neurodegeneration , vol.6 , pp. 24
    • Hao, L.T.1    Burghes, A.H.M.2    Beattie, E.C.3
  • 65
    • 84859529773 scopus 로고    scopus 로고
    • Survival Motor Neuron affects Plastin 3 protein levels leading to motor defects
    • 1:CAS:528:DC%2BC38XmtVKmtbg%3D 10.1523/JNEUROSCI.5808-11.2012
    • Hao, L. T.; Wolman, M.; Granato, M.; & Beattie, C. E. (2012). Survival Motor Neuron affects Plastin 3 protein levels leading to motor defects. Journal of Neuroscience, 32, 5074-5084.
    • (2012) Journal of Neuroscience , vol.32 , pp. 5074-5084
    • Hao, L.T.1    Wolman, M.2    Granato, M.3    Beattie, C.E.4
  • 66
    • 0035836751 scopus 로고    scopus 로고
    • Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
    • 11294923 1:CAS:528:DC%2BD3MXjsFSnsrk%3D 10.1212/WNL.56.7.869
    • Haravuori, H.; Vihola, A.; Straub, V.; Auranen, M.; Richard, I.; Marchand, S.; et al. (2001). Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology, 56, 869-877.
    • (2001) Neurology , vol.56 , pp. 869-877
    • Haravuori, H.1    Vihola, A.2    Straub, V.3    Auranen, M.4    Richard, I.5    Marchand, S.6
  • 67
    • 10444272433 scopus 로고    scopus 로고
    • Birefringent Fourier-transform imaging spectrometer
    • 19484098 10.1364/OPEX.12.005368
    • Harvey, A. R.; & Fletcher-Holmes, D. W. (2004). Birefringent Fourier-transform imaging spectrometer. Optics Express, 12, 5368-5374.
    • (2004) Optics Express , vol.12 , pp. 5368-5374
    • Harvey, A.R.1    Fletcher-Holmes, D.W.2
  • 68
    • 0037329891 scopus 로고    scopus 로고
    • Progranulin is a mediator of the wound response
    • 12524533 1:CAS:528:DC%2BD3sXotlShtQ%3D%3D 10.1038/nm816
    • He, Z.; Ong, C. H.; Halper, J.; & Bateman, A. (2003). Progranulin is a mediator of the wound response. Nature Medicine, 9, 225-229.
    • (2003) Nature Medicine , vol.9 , pp. 225-229
    • He, Z.1    Ong, C.H.2    Halper, J.3    Bateman, A.4
  • 69
    • 0028980027 scopus 로고
    • Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
    • 7550355 1:CAS:528:DyaK2MXosF2rt7s%3D 10.1038/ng1095-216
    • Helbling-Leclerc, A.; Zhang, X.; Topaloglu, H.; Cruaud, C.; Tesson, F.; Weissenbach, J.; et al. (1995). Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics, 11, 216-218.
    • (1995) Nature Genetics , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3    Cruaud, C.4    Tesson, F.5    Weissenbach, J.6
  • 70
    • 70349101617 scopus 로고    scopus 로고
    • Abnormal glycosylation of dystroglycan in human genetic disease
    • 19539754 1:CAS:528:DC%2BD1MXhtFGqsLvI 10.1016/j.bbadis.2009.06.003
    • Hewitt, J. E. (2009). Abnormal glycosylation of dystroglycan in human genetic disease. Biochimica et Biophysica Acta, 1792, 853-861.
    • (2009) Biochimica et Biophysica Acta , vol.1792 , pp. 853-861
    • Hewitt, J.E.1
  • 71
    • 0033976679 scopus 로고    scopus 로고
    • Biosynthesis of dystroglycan: Processing of a precursor propeptide
    • 10683445 1:CAS:528:DC%2BD3cXhtFamtLc%3D 10.1016/S0014-5793(00)01195-9
    • Holt, K. H.; Crosbie, R. H.; Venzke, D. P.; & Campbell, K. P. (2000). Biosynthesis of dystroglycan: Processing of a precursor propeptide. FEBS Letters, 468, 79-83.
    • (2000) FEBS Letters , vol.468 , pp. 79-83
    • Holt, K.H.1    Crosbie, R.H.2    Venzke, D.P.3    Campbell, K.P.4
  • 72
    • 0035109410 scopus 로고    scopus 로고
    • Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
    • 11198284 1:STN:280:DC%2BD3M7gslKltg%3D%3D 10.1002/1531-8249(200101)49: 1<130: AID-ANA22>3.0.CO;2-0
    • Illa, I.; Serrano-Munuera, C.; Gallardo, E.; Lasa, A.; Rojas-García, R.; Palmer, J.; et al. (2001). Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Annals of Neurology, 49, 130-134.
    • (2001) Annals of Neurology , vol.49 , pp. 130-134
    • Illa, I.1    Serrano-Munuera, C.2    Gallardo, E.3    Lasa, A.4    Rojas-García, R.5    Palmer, J.6
  • 73
    • 84871519181 scopus 로고    scopus 로고
    • TALENs: A widely applicable technology for targeted genome editing
    • 23169466 1:CAS:528:DC%2BC38Xhs12ks7rJ
    • Joung, J. K.; & Sander, J. D. (2013). TALENs: A widely applicable technology for targeted genome editing. Nature Reviews, 14, 49-55.
    • (2013) Nature Reviews , vol.14 , pp. 49-55
    • Joung, J.K.1    Sander, J.D.2
  • 74
    • 78751704366 scopus 로고    scopus 로고
    • Zebrafish models for the functional genomics of neurogenetic disorders
    • 20887784 1:CAS:528:DC%2BC3MXhtVegsLg%3D 10.1016/j.bbadis.2010.09.011
    • Kabashi, E.; Brustein, E.; Champagne, N.; & Drapeau, P. (2011). Zebrafish models for the functional genomics of neurogenetic disorders. Biochimica et Biophysica Acta, 1812, 335-345.
    • (2011) Biochimica et Biophysica Acta , vol.1812 , pp. 335-345
    • Kabashi, E.1    Brustein, E.2    Champagne, N.3    Drapeau, P.4
  • 75
    • 77955089579 scopus 로고    scopus 로고
    • In the swim of things: Recent insights to neurogenetic disorders from zebrafish
    • 20580116 1:CAS:528:DC%2BC3cXptlWnsbo%3D 10.1016/j.tig.2010.05.004
    • Kabashi, E.; Champagne, N.; Brustein, E.; & Drapeau, P. (2010). In the swim of things: Recent insights to neurogenetic disorders from zebrafish. Trends in Genetics, 26, 373-381.
    • (2010) Trends in Genetics , vol.26 , pp. 373-381
    • Kabashi, E.1    Champagne, N.2    Brustein, E.3    Drapeau, P.4
  • 76
    • 84877726997 scopus 로고    scopus 로고
    • The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
    • 10.1016/j.nmd.2012.10.021
    • Kaplan, J. C.; & Hamroun, D. (2012). The 2013 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders, 22(12), 1108-1135.
    • (2012) Neuromuscular Disorders , vol.22 , Issue.12 , pp. 1108-1135
    • Kaplan, J.C.1    Hamroun, D.2
  • 77
    • 77950351342 scopus 로고    scopus 로고
    • Zebrafish models for human FKRP muscular dystrophies
    • 19955119 1:CAS:528:DC%2BC3cXmvVSjug%3D%3D 10.1093/hmg/ddp528
    • Kawahara, G.; Guyon, J. R.; Nakamura, Y.; & Kunkel, L. M. (2010). Zebrafish models for human FKRP muscular dystrophies. Human Molecular Genetics, 19, 623-633.
    • (2010) Human Molecular Genetics , vol.19 , pp. 623-633
    • Kawahara, G.1    Guyon, J.R.2    Nakamura, Y.3    Kunkel, L.M.4
  • 80
    • 46749083014 scopus 로고    scopus 로고
    • Proteinase 3 and neutrophil elastase enhance inflammation in mice by inactivating antiinflammatory progranulin
    • 18568075 1:CAS:528:DC%2BD1cXot1Ontrc%3D
    • Kessenbrock, K.; Frohlich, L.; Sixt, M.; Lammermann, T.; Pfister, H.; Bateman, A.; et al. (2008). Proteinase 3 and neutrophil elastase enhance inflammation in mice by inactivating antiinflammatory progranulin. Journal of Clinical Investigation, 118, 2438-2447.
    • (2008) Journal of Clinical Investigation , vol.118 , pp. 2438-2447
    • Kessenbrock, K.1    Frohlich, L.2    Sixt, M.3    Lammermann, T.4    Pfister, H.5    Bateman, A.6
  • 82
    • 0032560851 scopus 로고    scopus 로고
    • An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
    • 9690476 1:CAS:528:DyaK1cXkvVKhsLk%3D 10.1038/28256
    • Kobayashi, K.; Nakahori, Y.; Miyake, M.; Matsumura, K.; Kondo-Iida, E.; Nomura, Y.; et al. (1998). An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature, 394, 388-392.
    • (1998) Nature , vol.394 , pp. 388-392
    • Kobayashi, K.1    Nakahori, Y.2    Miyake, M.3    Matsumura, K.4    Kondo-Iida, E.5    Nomura, Y.6
  • 83
    • 0023006172 scopus 로고
    • Determination of the tissue distributions and relative concentrations of the postsynaptic 43 kDa protein and the acetylcholine receptor in Torpedo
    • 3514614 1:CAS:528:DyaL28XktVekurs%3D
    • LaRochelle, W. J.; & Froehner, S. C. (1986). Determination of the tissue distributions and relative concentrations of the postsynaptic 43 kDa protein and the acetylcholine receptor in Torpedo. Journal of Biological Chemistry, 261, 5270-5274.
    • (1986) Journal of Biological Chemistry , vol.261 , pp. 5270-5274
    • Larochelle, W.J.1    Froehner, S.C.2
  • 84
    • 79954476337 scopus 로고    scopus 로고
    • Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
    • 10.1093/hmg/ddr059 1:CAS:528:DC%2BC3MXksFSku7g%3D
    • Lefeber, D. J.; Schönberger, J.; Morava, E.; Guillard, M.; Huyben, K. M.; Verrijp, K.; et al. (2011). Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Human Molecular Genetics, 20, 1763-1775.
    • (2011) Human Molecular Genetics , vol.20 , pp. 1763-1775
    • Lefeber, D.J.1    Schönberger, J.2    Morava, E.3    Guillard, M.4    Huyben, K.M.5    Verrijp, K.6
  • 86
    • 84863863711 scopus 로고    scopus 로고
    • Muscle diseases in the zebrafish
    • 22647769 10.1016/j.nmd.2012.04.007
    • Lin, Y. Y. (2012). Muscle diseases in the zebrafish. Neuromuscular Disorders, 22, 673-684.
    • (2012) Neuromuscular Disorders , vol.22 , pp. 673-684
    • Lin, Y.Y.1
  • 87
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • 9731526 1:CAS:528:DyaK1cXmtVOmt7s%3D 10.1038/1682
    • Liu, J.; Aoki, M.; Illa, I.; Wu, C.; Fardeau, M.; Angelini, C.; et al. (1998). Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genetics, 20, 31-36.
    • (1998) Nature Genetics , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3    Wu, C.4    Fardeau, M.5    Angelini, C.6
  • 88
    • 10744226857 scopus 로고    scopus 로고
    • Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    • 12966029 1:CAS:528:DC%2BD3sXos1Wgsbg%3D 10.1093/hmg/ddg307
    • Longman, C.; Brockington, M.; Torelli, S.; Jimenez-Mallebrera, C.; Kennedy, C.; Khalil, N.; et al. (2003). Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Human Molecular Genetics, 12, 2853-2861.
    • (2003) Human Molecular Genetics , vol.12 , pp. 2853-2861
    • Longman, C.1    Brockington, M.2    Torelli, S.3    Jimenez-Mallebrera, C.4    Kennedy, C.5    Khalil, N.6
  • 89
    • 67649584051 scopus 로고    scopus 로고
    • Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies
    • 19576565 10.1016/j.ajhg.2009.06.006 1:CAS:528:DC%2BD1MXhtVeltL7M
    • Maeda, Y.; van den Heuve, L.; Lammens, M.; Lehle, L.; & Wevers, R. A. (2009). Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. American Journal of Human Genetics, 85, 76-86.
    • (2009) American Journal of Human Genetics , vol.85 , pp. 76-86
    • Maeda, Y.1    Van Den Heuve, L.2    Lammens, M.3    Lehle, L.4    Wevers, R.A.5
  • 90
    • 0347635516 scopus 로고    scopus 로고
    • Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity
    • 14699049 1:CAS:528:DC%2BD2cXmsFGgtw%3D%3D 10.1073/pnas.0307228101
    • Manya, H.; Chiba, A.; Yoshida, A.; Wang, X.; Chiba, Y.; Jigami, Y.; et al. (2004). Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity. Proceedings of the National Academy of Sciences of the United States of America, 101, 500-505.
    • (2004) Proceedings of the National Academy of Sciences of the United States of America , vol.101 , pp. 500-505
    • Manya, H.1    Chiba, A.2    Yoshida, A.3    Wang, X.4    Chiba, Y.5    Jigami, Y.6
  • 91
    • 55549126862 scopus 로고    scopus 로고
    • Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WW outside of the Middle East
    • 18752264 10.1002/humu.20844
    • Manzini, M. C.; Gleason, D.; Chang, B. S.; Hill, R. S.; Barry, B. J.; Partlow, J. N.; et al. (2008). Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WW outside of the Middle East. Human Mutation, 29, E231-E241.
    • (2008) Human Mutation , vol.29
    • Manzini, M.C.1    Gleason, D.2    Chang, B.S.3    Hill, R.S.4    Barry, B.J.5    Partlow, J.N.6
  • 92
    • 84866063186 scopus 로고    scopus 로고
    • Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg Syndrome
    • 22958903 1:CAS:528:DC%2BC38XhtlertbzF 10.1016/j.ajhg.2012.07.009
    • Manzini, M. C.; Tambunan, D. E.; Hill, R. S.; Yu, T. W.; Maynard, T. M.; Heinzen, E. L.; et al. (2012). Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg Syndrome. American Journal of Human Genetics, 91, 541-547.
    • (2012) American Journal of Human Genetics , vol.91 , pp. 541-547
    • Manzini, M.C.1    Tambunan, D.E.2    Hill, R.S.3    Yu, T.W.4    Maynard, T.M.5    Heinzen, E.L.6
  • 93
    • 0042887389 scopus 로고    scopus 로고
    • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding
    • 12952942 1:CAS:528:DC%2BD3sXntFeqsbo%3D 10.1083/jcb.200303168
    • McWhorter, M. L.; Monani, U. R.; Burghes, A. H.; & Beattie, C. E. (2003). Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. Journal of Cell Biology, 162, 919-931.
    • (2003) Journal of Cell Biology , vol.162 , pp. 919-931
    • McWhorter, M.L.1    Monani, U.R.2    Burghes, A.H.3    Beattie, C.E.4
  • 94
    • 0030757151 scopus 로고    scopus 로고
    • Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit
    • 9221765 1:CAS:528:DyaK2sXkvFyntbc%3D
    • Milone, M.; Wang, H. L.; Ohno, K.; Fukudome, T.; Pruitt, J. N.; Bren, N.; et al. (1997). Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. Journal of Neuroscience, 17, 5651-5665.
    • (1997) Journal of Neuroscience , vol.17 , pp. 5651-5665
    • Milone, M.1    Wang, H.L.2    Ohno, K.3    Fukudome, T.4    Pruitt, J.N.5    Bren, N.6
  • 95
    • 8444247525 scopus 로고    scopus 로고
    • Laminin functions in tissue morphogenesis
    • 15473841 1:CAS:528:DC%2BD2cXhtVaqu7bJ 10.1146/annurev.cellbio.20.010403. 094555
    • Miner, J. H.; & Yurchenco, P. D. (2004). Laminin functions in tissue morphogenesis. Annual Review of Cell and Developmental Biology, 20, 255-284.
    • (2004) Annual Review of Cell and Developmental Biology , vol.20 , pp. 255-284
    • Miner, J.H.1    Yurchenco, P.D.2
  • 96
    • 49349099263 scopus 로고    scopus 로고
    • Genes required for functional glycosylation of dystroglycan are conserved in zebrafish
    • 18632251 1:CAS:528:DC%2BD1cXhtVajurzL 10.1016/j.ygeno.2008.05.008
    • Moore, C. J.; Tse Goh, H.; & Hewitt, J. E. (2008). Genes required for functional glycosylation of dystroglycan are conserved in zebrafish. Genomics, 92, 159-167.
    • (2008) Genomics , vol.92 , pp. 159-167
    • Moore, C.J.1    Tse Goh, H.2    Hewitt, J.E.3
  • 97
    • 72149090954 scopus 로고    scopus 로고
    • A simple cipher governs DNA recognition by TAL effectors
    • 19933106 1:CAS:528:DC%2BD1MXhsFensbjP 10.1126/science.1178817
    • Moscou, M. J.; & Bogdanove, A. J. (2009). A simple cipher governs DNA recognition by TAL effectors. Science, 326, 1501.
    • (2009) Science , vol.326 , pp. 1501
    • Moscou, M.J.1    Bogdanove, A.J.2
  • 98
    • 34250880117 scopus 로고    scopus 로고
    • Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes
    • 17439981 10.1093/brain/awm068
    • Müller, J. S.; Herczegfalvi, A.; Vilchez, J. J.; Colomer, J.; Bachinski, L. L.; Mihaylova, V.; et al. (2007). Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain, 130, 1497-1506.
    • (2007) Brain , vol.130 , pp. 1497-1506
    • Müller, J.S.1    Herczegfalvi, A.2    Vilchez, J.J.3    Colomer, J.4    Bachinski, L.L.5    Mihaylova, V.6
  • 99
    • 77952538099 scopus 로고    scopus 로고
    • Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes
    • 20147321 10.1093/hmg/ddq049 1:CAS:528:DC%2BC3cXksFKnsLk%3D
    • Müller, J. S.; Jepson, C. D.; Laval, S. H.; Bushby, K.; Straub, V.; & Lochmüller, H. (2010). Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. Human Molecular Genetics, 19, 1726-1740.
    • (2010) Human Molecular Genetics , vol.19 , pp. 1726-1740
    • Müller, J.S.1    Jepson, C.D.2    Laval, S.H.3    Bushby, K.4    Straub, V.5    Lochmüller, H.6
  • 100
    • 0010526496 scopus 로고
    • Acetylcholine and local anesthetic binding to Torpedo nicotinic postsynaptic membranes after removal of nonreceptor peptides
    • 34154 1:CAS:528:DyaE1MXhs1ajsro%3D 10.1073/pnas.76.2.690
    • Neubig, R. R.; Krodel, E. K.; Boyd, N. D.; & Cohen, J. B. (1979). Acetylcholine and local anesthetic binding to Torpedo nicotinic postsynaptic membranes after removal of nonreceptor peptides. Proceedings of the National Academy of Sciences of the United States of America, 76, 690-694.
    • (1979) Proceedings of the National Academy of Sciences of the United States of America , vol.76 , pp. 690-694
    • Neubig, R.R.1    Krodel, E.K.2    Boyd, N.D.3    Cohen, J.B.4
  • 101
    • 33645740278 scopus 로고    scopus 로고
    • Neuromuscular disorders: Gene location
    • Neuromuscular disorders: Gene location. (2006). Neuromuscular Disorders, 16, 64-90.
    • (2006) Neuromuscular Disorders , vol.16 , pp. 64-90
  • 102
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • 19915526 1:CAS:528:DC%2BD1MXhsVWlsbzE 10.1038/ng.499
    • Ng, S. B.; Buckingham, K. J.; Lee, C.; Bigham, A. W.; Tabor, H. K.; Dent, K. M.; et al. (2010). Exome sequencing identifies the cause of a Mendelian disorder. Nature Genetics, 42, 30-35.
    • (2010) Nature Genetics , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3    Bigham, A.W.4    Tabor, H.K.5    Dent, K.M.6
  • 103
    • 80052477741 scopus 로고    scopus 로고
    • Limb girdle muscular dystrophies: Update on genetic diagnosis and therapeutic approaches
    • 10.1097/WCO.0b013e32834aa38d 1:CAS:528:DC%2BC3MXhtFGitr7O
    • Nigro, V.; Aurino, S.; & Piluso, G. (2011). Limb girdle muscular dystrophies: Update on genetic diagnosis and therapeutic approaches. Current Opinion in Neurology, 5, 429-436.
    • (2011) Current Opinion in Neurology , vol.5 , pp. 429-436
    • Nigro, V.1    Aurino, S.2    Piluso, G.3
  • 104
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta-sarcoglycan gene
    • 8841194 1:CAS:528:DyaK28XmtVKntLY%3D 10.1038/ng1096-195
    • Nigro, V.; Moreira, E.d. S.; Piluso, G.; Vainzof, M.; Belsito, A.; Politano, L.; et al. (1996). Autosomal recessive limb girdle muscular dystrophy (LGMD2F) is caused by a mutation in the delta-sarcoglycan gene. Nature Genetics, 14, 195-198.
    • (1996) Nature Genetics , vol.14 , pp. 195-198
    • Nigro, V.1    Moreira, E.2    Piluso, G.3    Vainzof, M.4    Belsito, A.5    Politano, L.6
  • 105
    • 0027467701 scopus 로고
    • 43 K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo
    • 8416841 1:CAS:528:DyaK3sXnslOrtg%3D%3D 10.1006/dbio.1993.1025
    • Noakes, P. G.; Phillips, W. D.; Hanley, T. A.; Sanes, J. R.; & Merlie, J. P. (1993). 43 K protein and acetylcholine receptors colocalize during the initial stages of neuromuscular synapse formation in vivo. Developmental Biology, 155, 275-280.
    • (1993) Developmental Biology , vol.155 , pp. 275-280
    • Noakes, P.G.1    Phillips, W.D.2    Hanley, T.A.3    Sanes, J.R.4    Merlie, J.P.5
  • 106
    • 70350690312 scopus 로고    scopus 로고
    • Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
    • 19767415 10.1093/brain/awp236
    • Norwood, F. L.; Harling, C.; Chinnery, P. F.; Eagle, M.; Bushby, K.; & Straub, V. (2009). Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population. Brain, 132, 3175-3186.
    • (2009) Brain , vol.132 , pp. 3175-3186
    • Norwood, F.L.1    Harling, C.2    Chinnery, P.F.3    Eagle, M.4    Bushby, K.5    Straub, V.6
  • 107
    • 84877742889 scopus 로고    scopus 로고
    • Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes
    • [Epub ahead of print], PMID: 23457230
    • Ohno, K. (2013) Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes. Journal of Neurology, Neurosurgery, and Psychiatry, [Epub ahead of print], PMID: 23457230.
    • (2013) Journal of Neurology, Neurosurgery, and Psychiatry
    • Ohno, K.1
  • 108
    • 33745495950 scopus 로고    scopus 로고
    • The muscle protein Dok-7 is essential for neuromuscular synaptogenesis
    • 16794080 1:CAS:528:DC%2BD28XmtVSnt7k%3D 10.1126/science.1127142
    • Okada, K.; Inoue, A.; Okada, M.; Murata, Y.; Kakuta, S.; Jigami, T.; et al. (2006). The muscle protein Dok-7 is essential for neuromuscular synaptogenesis. Science, 312, 1802-1805.
    • (2006) Science , vol.312 , pp. 1802-1805
    • Okada, K.1    Inoue, A.2    Okada, M.3    Murata, Y.4    Kakuta, S.5    Jigami, T.6
  • 109
    • 0036703467 scopus 로고    scopus 로고
    • The zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function
    • 12151528 1:CAS:528:DC%2BD38XlvFKnsb4%3D
    • Ono, F.; Shcherbatko, A.; Higashijima, S. I.; Mandel, G.; & Brehm, P. (2002). The zebrafish motility mutant twitch once reveals new roles for rapsyn in synaptic function. Journal of Neuroscience, 22, 6491-6498.
    • (2002) Journal of Neuroscience , vol.22 , pp. 6491-6498
    • Ono, F.1    Shcherbatko, A.2    Higashijima, S.I.3    Mandel, G.4    Brehm, P.5
  • 110
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • 18440926 1:CAS:528:DC%2BD1cXkvFGkt78%3D 10.1126/science.1155085
    • Oprea, G. E.; Krober, S.; McWhorter, M. L.; Rossoll, W.; Muller, S.; Krawczak, M.; et al. (2008). Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science, 320, 524-527.
    • (2008) Science , vol.320 , pp. 524-527
    • Oprea, G.E.1    Krober, S.2    McWhorter, M.L.3    Rossoll, W.4    Muller, S.5    Krawczak, M.6
  • 111
    • 23844556836 scopus 로고    scopus 로고
    • Effects of progranulin on blastocyst hatching and subsequent adhesion and outgrowth in the mouse
    • 15901638 1:CAS:528:DC%2BD2MXovV2qt70%3D 10.1095/biolreprod.105.040030
    • Qin, J.; Diaz-Cueto, L.; Schwarze, J. E.; Takahashi, Y.; Imai, M.; Isuzugawa, K.; et al. (2005). Effects of progranulin on blastocyst hatching and subsequent adhesion and outgrowth in the mouse. Biology of Reproduction, 73, 434-442.
    • (2005) Biology of Reproduction , vol.73 , pp. 434-442
    • Qin, J.1    Diaz-Cueto, L.2    Schwarze, J.E.3    Takahashi, Y.4    Imai, M.5    Isuzugawa, K.6
  • 112
    • 77956496676 scopus 로고    scopus 로고
    • A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease
    • 20504969 1:CAS:528:DC%2BC3MXhvVertbk%3D 10.1242/dmm.005538
    • Ramesh, T.; Lyon, A. N.; Pineda, R. H.; Wang, C.; Janssen, P. M. L.; Canan, B. D.; et al. (2010). A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease. Disease Models and Mechanisms, 3, 652-662.
    • (2010) Disease Models and Mechanisms , vol.3 , pp. 652-662
    • Ramesh, T.1    Lyon, A.N.2    Pineda, R.H.3    Wang, C.4    Janssen, P.M.L.5    Canan, B.D.6
  • 113
    • 84860747716 scopus 로고    scopus 로고
    • FLASH assembly of TALENs for high throughput genome editing
    • 22484455 1:CAS:528:DC%2BC38XltFOhtbc%3D 10.1038/nbt.2170
    • Reyon, D.; Tsai, S. Q.; Khayter, C.; Foden, J. A.; Sander, J. D.; & Joung, J. K. (2012). FLASH assembly of TALENs for high throughput genome editing. Nature Biotechnology, 30, 460-465.
    • (2012) Nature Biotechnology , vol.30 , pp. 460-465
    • Reyon, D.1    Tsai, S.Q.2    Khayter, C.3    Foden, J.A.4    Sander, J.D.5    Joung, J.K.6
  • 114
    • 0035073894 scopus 로고    scopus 로고
    • SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
    • 11354640 1:CAS:528:DC%2BD3MXjvFynsr0%3D 10.1007/s004390100473
    • Rochette, C. F.; Gilbert, N.; & Simard, L. R. (2001). SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Human Genetics, 108, 255-266.
    • (2001) Human Genetics , vol.108 , pp. 255-266
    • Rochette, C.F.1    Gilbert, N.2    Simard, L.R.3
  • 115
    • 84858198502 scopus 로고    scopus 로고
    • In vivo imaging of molecular interactions at damaged sarcolemma
    • 22421042 1:CAS:528:DC%2BC38Xjslenur4%3D 10.1016/j.devcel.2011.12.008
    • Roostalu, U.; & Strähle, U. (2012). In vivo imaging of molecular interactions at damaged sarcolemma. Developmental Cell, 22, 515-529.
    • (2012) Developmental Cell , vol.22 , pp. 515-529
    • Roostalu, U.1    Strähle, U.2
  • 116
    • 84860322514 scopus 로고    scopus 로고
    • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
    • 22522421 1:CAS:528:DC%2BC38XlvVKntr8%3D 10.1038/ng.2253
    • Roscioli, T.; Kamsteeg, E. J.; Buysse, K.; Maystadt, I.; van Reeuwijk, J.; van den Elzen, C.; et al. (2012). Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature Genetics, 44, 581-585.
    • (2012) Nature Genetics , vol.44 , pp. 581-585
    • Roscioli, T.1    Kamsteeg, E.J.2    Buysse, K.3    Maystadt, I.4    Van Reeuwijk, J.5    Van Den Elzen, C.6
  • 118
    • 79961192836 scopus 로고    scopus 로고
    • Targeted gene disruption in somatic zebrafish cells using engineered TALENs
    • 21822241 1:CAS:528:DC%2BC3MXpvVOlsrc%3D 10.1038/nbt.1934
    • Sander, J. D.; Cade, L.; Khayter, C.; Reyon, D.; Peterson, R. T.; Joung, J. K.; et al. (2011). Targeted gene disruption in somatic zebrafish cells using engineered TALENs. Nature Biotechnology, 29, 697-698.
    • (2011) Nature Biotechnology , vol.29 , pp. 697-698
    • Sander, J.D.1    Cade, L.2    Khayter, C.3    Reyon, D.4    Peterson, R.T.5    Joung, J.K.6    Yeh, J.R.7
  • 119
    • 84863557893 scopus 로고    scopus 로고
    • Hooked! Modeling human disease in zebrafish
    • 22751109 1:CAS:528:DC%2BC38XpvFOmsLs%3D 10.1172/JCI60434
    • Santoriello, C.; & Zon, L. I. (2012). Hooked! Modeling human disease in zebrafish. Journal of Clinical Investigation, 122, 2337-2343.
    • (2012) Journal of Clinical Investigation , vol.122 , pp. 2337-2343
    • Santoriello, C.1    Zon, L.I.2
  • 120
    • 77956230877 scopus 로고    scopus 로고
    • Muscular dystrophies: An update on pathology and diagnosis
    • 20652576 1:CAS:528:DC%2BC3cXpsVKks70%3D 10.1007/s00401-010-0727-5
    • Sewry, C. A. (2010). Muscular dystrophies: An update on pathology and diagnosis. Acta Neuropathologica, 120, 343-358.
    • (2010) Acta Neuropathologica , vol.120 , pp. 343-358
    • Sewry, C.A.1
  • 121
    • 0017708049 scopus 로고
    • Large-scale purification of the acetylcholine-receptor protein in its membrane-bound and detergent extracted forms from Torpedo marmorata electric organ
    • 923574 1:CAS:528:DyaE2sXlvFKrsLs%3D 10.1111/j.1432-1033.1977.tb11874.x
    • Sobel, A.; Weber, M.; & Changeux, J. P. (1977). Large-scale purification of the acetylcholine-receptor protein in its membrane-bound and detergent extracted forms from Torpedo marmorata electric organ. European Journal of Biochemistry, 80, 215-224.
    • (1977) European Journal of Biochemistry , vol.80 , pp. 215-224
    • Sobel, A.1    Weber, M.2    Changeux, J.P.3
  • 123
    • 0030990635 scopus 로고    scopus 로고
    • Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency
    • 9131648 1:STN:280:DyaK2s3nvVemtA%3D%3D 10.1016/S0960-8966(96)00421-X
    • Tan, E.; Topaloglu, H.; Sewry, C.; Zorlu, Y.; Naom, I.; Erdem, S.; et al. (1997). Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromuscular Disorders, 7, 85-89.
    • (1997) Neuromuscular Disorders , vol.7 , pp. 85-89
    • Tan, E.1    Topaloglu, H.2    Sewry, C.3    Zorlu, Y.4    Naom, I.5    Erdem, S.6
  • 124
    • 79961196358 scopus 로고    scopus 로고
    • Knockout rats generated by embryo microinjection of TALENs
    • 21822240 1:CAS:528:DC%2BC3MXpvVOlurY%3D 10.1038/nbt.1940
    • Tesson, L.; Usal, C.; Ménoret, S.; Leung, E.; Niles, B. J.; Remy, S.; et al. (2011). Knockout rats generated by embryo microinjection of TALENs. Nature Biotechnology, 29, 695-696.
    • (2011) Nature Biotechnology , vol.29 , pp. 695-696
    • Tesson, L.1    Usal, C.2    Ménoret, S.3    Leung, E.4    Niles, B.J.5    Remy, S.6
  • 125
    • 44949102241 scopus 로고    scopus 로고
    • Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
    • 18477595 10.1093/brain/awn078
    • Thornhill, P.; Bassett, D.; Lochmüller, H.; Bushby, K.; & Straub, V. (2008). Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP). Brain, 131, 1551-1561.
    • (2008) Brain , vol.131 , pp. 1551-1561
    • Thornhill, P.1    Bassett, D.2    Lochmüller, H.3    Bushby, K.4    Straub, V.5
  • 126
    • 0034333004 scopus 로고    scopus 로고
    • Laminins: Structure and genetic regulation
    • 11054872 1:CAS:528:DC%2BD3cXot1Sntr8%3D 10.1002/1097-0029(20001101)51: 3<214: AID-JEMT2>3.0.CO;2-J
    • Tunggal, P.; Smyth, N.; Paulsson, M.; & Ott, M. C. (2000). Laminins: Structure and genetic regulation. Microscopy Research and Technique, 51, 214-227.
    • (2000) Microscopy Research and Technique , vol.51 , pp. 214-227
    • Tunggal, P.1    Smyth, N.2    Paulsson, M.3    Ott, M.C.4
  • 128
    • 84865861518 scopus 로고    scopus 로고
    • Next generation sequencing for molecular diagnosis of neuromuscular diseases
    • 22526018 1:CAS:528:DC%2BC38XhtVOhurzM 10.1007/s00401-012-0982-8
    • Vasli, N.; Böhm, J.; Le Gras, S.; Muller, J.; Pizot, C.; Jost, B.; et al. (2012). Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathologica, 124, 273-283.
    • (2012) Acta Neuropathologica , vol.124 , pp. 273-283
    • Vasli, N.1    Böhm, J.2    Le Gras, S.3    Muller, J.4    Pizot, C.5    Jost, B.6
  • 129
    • 79952150967 scopus 로고    scopus 로고
    • Cardiac involvement in patients with muscular dystrophies: Magnetic resonance imaging phenotype and genotypic considerations
    • 21245364 10.1161/CIRCIMAGING.110.960740
    • Verhaert, D.; Richards, K.; Rafael-Fortney, J. A.; & Raman, S. V. (2011). Cardiac involvement in patients with muscular dystrophies: Magnetic resonance imaging phenotype and genotypic considerations. Circulation. Cardiovascular Imaging, 4, 67-76.
    • (2011) Circulation. Cardiovascular Imaging , vol.4 , pp. 67-76
    • Verhaert, D.1    Richards, K.2    Rafael-Fortney, J.A.3    Raman, S.V.4
  • 130
    • 77956487722 scopus 로고    scopus 로고
    • TRPV4-mediated channelopathies
    • 20676052 1:CAS:528:DC%2BC3cXhsFyrtbzM 10.4161/chan.4.4.12905
    • Verma, P.; Kumar, A.; & Goswami, C. (2010). TRPV4-mediated channelopathies. Channels, 4, 319-328.
    • (2010) Channels , vol.4 , pp. 319-328
    • Verma, P.1    Kumar, A.2    Goswami, C.3
  • 131
    • 84861893419 scopus 로고    scopus 로고
    • Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome
    • 22674269 1:CAS:528:DC%2BC38XovFSlsrs%3D 10.1523/JNEUROSCI.0158-12.2012
    • Walogorsky, M.; Mongeon, R.; Wen, H.; Mandel, G.; & Brehm, P. (2012a). Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome. Journal of Neuroscience, 32, 7941-7948.
    • (2012) Journal of Neuroscience , vol.32 , pp. 7941-7948
    • Walogorsky, M.1    Mongeon, R.2    Wen, H.3    Mandel, G.4    Brehm, P.5
  • 134
    • 18044400450 scopus 로고    scopus 로고
    • Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
    • 11709191 1:CAS:528:DC%2BD3MXovVSju7c%3D 10.1016/S1534-5807(01)00070-3
    • Yoshida, A.; Kobayashi, K.; Manya, H.; Taniguchi, K.; Kano, H.; Mizuno, M.; et al. (2001). Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Developmental Cell, 1, 717-724.
    • (2001) Developmental Cell , vol.1 , pp. 717-724
    • Yoshida, A.1    Kobayashi, K.2    Manya, H.3    Taniguchi, K.4    Kano, H.5    Mizuno, M.6
  • 135
    • 70349994804 scopus 로고    scopus 로고
    • Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly
    • 19679566 1:CAS:528:DC%2BD1MXht1CrtrjM 10.1093/hmg/ddp362
    • Zhang, R.; Yang, J.; Zhu, J.; & Xu, X. (2009). Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. Human Molecular Genetics, 18, 4130-4140.
    • (2009) Human Molecular Genetics , vol.18 , pp. 4130-4140
    • Zhang, R.1    Yang, J.2    Zhu, J.3    Xu, X.4
  • 136
    • 84863980515 scopus 로고    scopus 로고
    • Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
    • 22703880 1:CAS:528:DC%2BC38Xhtl2kt7jL 10.1016/j.ajhg.2012.08.006
    • Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; et al. (2012). Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. American Journal of Human Genetics, 91, 5-14.
    • (2012) American Journal of Human Genetics , vol.91 , pp. 5-14
    • Zhou, J.1    Tawk, M.2    Tiziano, F.D.3    Veillet, J.4    Bayes, M.5    Nolent, F.6
  • 137
    • 0037074016 scopus 로고    scopus 로고
    • Conversion of proepithelin to epithelins: Roles of SLPI and elastase in host defense and wound repair
    • 12526812 1:CAS:528:DC%2BD3sXhtVyksw%3D%3D 10.1016/S0092-8674(02)01141-8
    • Zhu, J.; Nathan, C.; Jin, W.; Sim, D.; Ashcroft, G. S.; Wahl, S. M.; et al. (2002). Conversion of proepithelin to epithelins: Roles of SLPI and elastase in host defense and wound repair. Cell, 111, 867-878.
    • (2002) Cell , vol.111 , pp. 867-878
    • Zhu, J.1    Nathan, C.2    Jin, W.3    Sim, D.4    Ashcroft, G.S.5    Wahl, S.M.6
  • 138
    • 12144273121 scopus 로고    scopus 로고
    • In vivo drug discovery in the zebrafish
    • 15688071 1:CAS:528:DC%2BD2MXlslyr 10.1038/nrd1606
    • Zon, L. I.; & Peterson, R. T. (2005). In vivo drug discovery in the zebrafish. Nature Reviews. Drug Discovery, 4, 35-44.
    • (2005) Nature Reviews. Drug Discovery , vol.4 , pp. 35-44
    • Zon, L.I.1    Peterson, R.T.2


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