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Volumn 602, Issue , 2010, Pages 347-393

Neuromuscular disease models and analysis

Author keywords

amyotrophic lateral sclerosis (ALS); Charcot Marie Tooth diseases; congenital myasthenic syndromes; Duchenne's disease; hereditary motor and or sensory neuropathies (HSMNs); Motor neuron diseases; muscular dystrophies; neuromuscular junction; peripheral neuropathies; spinal muscular atrophy (SMA)

Indexed keywords

ANIMALIA; MUS;

EID: 77449125821     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-60761-058-8_20     Document Type: Article
Times cited : (27)

References (171)
  • 1
    • 35349025311 scopus 로고    scopus 로고
    • G93A mouse model of amyotrophic lateral sclerosis
    • DOI 10.1016/j.nbd.2007.07.003, PII S0969996107001416
    • Hegedus, J., Putman, C. T. and Gordon, T. (2007) Time course of preferential motor unit loss in the SOD1 G93A mouse model of amyotrophic lateral sclerosis. Neurobiol Dis 28, 154-164. (Pubitemid 47615455)
    • (2007) Neurobiology of Disease , vol.28 , Issue.2 , pp. 154-164
    • Hegedus, J.1    Putman, C.T.2    Gordon, T.3
  • 3
    • 33748545328 scopus 로고    scopus 로고
    • An Active Dominant Mutation of Glycyl-tRNA Synthetase Causes Neuropathy in a Charcot-Marie-Tooth 2D Mouse Model
    • DOI 10.1016/j.neuron.2006.08.027, PII S0896627306006738
    • Seburn, K. L., Nangle, L. A., Cox, G. A., Schimmel, P. and Burgess, R. W. (2006) An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. Neuron 51, 715-726. (Pubitemid 44374911)
    • (2006) Neuron , vol.51 , Issue.6 , pp. 715-726
    • Seburn, K.L.1    Nangle, L.A.2    Cox, G.A.3    Schimmel, P.4    Burgess, R.W.5
  • 5
    • 0028819222 scopus 로고
    • Nerve sprouting in muscle is induced and guided by processes extended by Schwann cells
    • Son, Y. J. and Thompson,W. J. (1995) Nerve sprouting in muscle is induced and guided by processes extended by Schwann cells. Neuron 14, 133-141.
    • (1995) Neuron , vol.14 , pp. 133-141
    • Son, Y.J.1    Thompsonw, J.2
  • 6
    • 0028796488 scopus 로고
    • Schwann cell processes guide regeneration of peripheral axons
    • Son, Y. J. and Thompson, W. J. (1995) Schwann cell processes guide regeneration of peripheral axons. Neuron 14, 125-132.
    • (1995) Neuron , vol.14 , pp. 125-132
    • Son, Y.J.1    Thompson, W.J.2
  • 9
    • 33344462702 scopus 로고    scopus 로고
    • Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF
    • DOI 10.1038/nn1653
    • Pun, S., Santos, A. F., Saxena, S., Xu, L. and Caroni, P. (2006) Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF. Nat Neurosci 9, 408-419. (Pubitemid 43290971)
    • (2006) Nature Neuroscience , vol.9 , Issue.3 , pp. 408-419
    • Pun, S.1    Santos, A.F.2    Saxena, S.3    Xu, L.4    Caroni, P.5
  • 10
  • 11
    • 49249123273 scopus 로고    scopus 로고
    • Sex-specific behavioural effects of environmental enrichment in a transgenic mouse model of amyotrophic lateral sclerosis
    • Stam, N. C., Nithianantharajah, J., Howard, M. L., Atkin, J. D., Cheema, S. S. and Hannan, A. J. (2008) Sex-specific behavioural effects of environmental enrichment in a transgenic mouse model of amyotrophic lateral sclerosis. Eur J Neurosci 28, 717-723.
    • (2008) Eur J Neurosci , vol.28 , pp. 717-723
    • Stam, N.C.1    Nithianantharajah, J.2    Howard, M.L.3    Atkin, J.D.4    Cheema, S.S.5    Hannan, A.J.6
  • 12
    • 53049100736 scopus 로고    scopus 로고
    • Prevention of muscle fibrosis and improvement in muscle performance in the mdx mouse by halofuginone
    • Turgeman, T., Hagai, Y., Huebner, K., Jassal, D. S., Anderson, J. E., Genin, O., et al. (2008) Prevention of muscle fibrosis and improvement in muscle performance in the mdx mouse by halofuginone. Neuromuscul Disord 18, 857-868.
    • (2008) Neuromuscul Disord , vol.18 , pp. 857-868
    • Turgeman, T.1    Hagai, Y.2    Huebner, K.3    Jassal, D.S.4    Anderson, J.E.5    Genin, O.6
  • 13
    • 59249109467 scopus 로고    scopus 로고
    • Calibration of rotational acceleration for the rotarod test of rodent motor coordination
    • Bohlen, M., Cameron, A., Metten, P., Crabbe, J. C. and Wahlsten, D. (2009) Calibration of rotational acceleration for the rotarod test of rodent motor coordination. J Neurosci Methods 178, 10-14.
    • (2009) J Neurosci Methods , vol.178 , pp. 10-14
    • Bohlen, M.1    Cameron, A.2    Metten, P.3    Crabbe, J.C.4    Wahlsten, D.5
  • 14
    • 0012837734 scopus 로고    scopus 로고
    • Influence of task parameters on rotarod performance and sensitivity to ethanol in mice
    • DOI 10.1016/S0166-4328(02)00376-5, PII S0166432802003765
    • Rustay, N. R., Wahlsten, D. and Crabbe, J. C. (2003) Influence of task parameters on rotarod performance and sensitivity to ethanol in mice. Behav Brain Res 141, 237-249. (Pubitemid 36542972)
    • (2003) Behavioural Brain Research , vol.141 , Issue.2 , pp. 237-249
    • Rustay, N.R.1    Wahlsten, D.2    Crabbe, J.C.3
  • 15
    • 27644575994 scopus 로고    scopus 로고
    • A fatigue resistance test for elderly persons based on grip strength: Reliability and comparison with healthy young subjects
    • Bautmans, I. and Mets, T. (2005) A fatigue resistance test for elderly persons based on grip strength: reliability and comparison with healthy young subjects. Aging Clin Exp Res 17, 217-222. (Pubitemid 41558107)
    • (2005) Aging - Clinical and Experimental Research , vol.17 , Issue.3 , pp. 217-222
    • Bautmans, I.1    Mets, T.2
  • 16
    • 0037196246 scopus 로고    scopus 로고
    • A simple method to measure stride length as an index of nigrostriatal dysfunction in mice
    • DOI 10.1016/S0165-0270(01)00485-X, PII S016502700100485X
    • Fernagut, P. O., Diguet, E., Labattu, B. and Tison, F. (2002) A simple method to measure stride length as an index of nigrostriatal dysfunction in mice. J Neurosci Methods 113, 123-130. (Pubitemid 34076535)
    • (2002) Journal of Neuroscience Methods , vol.113 , Issue.2 , pp. 123-130
    • Fernagut, P.O.1    Diguet, E.2    Labattu, B.3    Tison, F.4
  • 17
    • 21444451106 scopus 로고    scopus 로고
    • Gait analysis detects early changes in transgenic SOD1(G93A) mice
    • DOI 10.1002/mus.20228
    • Wooley, C. M., Sher, R. B., Kale, A., Frankel, W. N., Cox, G. A. and Seburn, K. L. (2005) Gait analysis detects early changes in transgenic SOD1(G93A) mice. Muscle Nerve 32, 43-50. (Pubitemid 40917888)
    • (2005) Muscle and Nerve , vol.32 , Issue.1 , pp. 43-50
    • Wooley, C.M.1    Sher, R.B.2    Kale, A.3    Frankel, W.N.4    Cox, G.A.5    Seburn, K.L.6
  • 18
    • 58149520161 scopus 로고    scopus 로고
    • Age, experience and genetic background influence treadmill walking in mice
    • Wooley, C. M., Xing, S., Burgess, R. W., Cox, G. A. and Seburn, K. L. (2009) Age, experience and genetic background influence treadmill walking in mice. Physiol Behav 96, 350-361.
    • (2009) Physiol Behav , vol.96 , pp. 350-361
    • Wooley, C.M.1    Xing, S.2    Burgess, R.W.3    Cox, G.A.4    Seburn, K.L.5
  • 20
    • 0029018638 scopus 로고
    • Adaptations of rat lateral gastrocnemius motor units in response to voluntary running
    • Seburn, K. L. and Gardiner, P. (1995) Adaptations of rat lateral gastrocnemius motor units in response to voluntary running. J Appl Physiol 78, 1673-1678.
    • (1995) J Appl Physiol , vol.78 , pp. 1673-1678
    • Seburn, K.L.1    Gardiner, P.2
  • 21
    • 0035449110 scopus 로고    scopus 로고
    • Force and power output of fast and slow skeletal muscles from mdx mice 6-28 months old
    • DOI 10.1111/j.1469-7793.2001.00591.x
    • Lynch, G. S., Hinkle, R. T., Chamberlain, J. S., Brooks, S. V. and Faulkner, J. A. (2001) Force and power output of fast and slow skeletal muscles from mdx mice 6-28 months old. J Physiol 535, 591-600. (Pubitemid 32825693)
    • (2001) Journal of Physiology , vol.535 , Issue.2 , pp. 591-600
    • Lynch, G.S.1    Hinkle, R.T.2    Chamberlain, J.S.3    Brooks, S.V.4    Faulkner, J.A.5
  • 22
    • 0023753401 scopus 로고
    • Contractile properties of skeletal muscles from young, adult and aged mice
    • Brooks, S. V. and Faulkner, J. A. (1988) Contractile properties of skeletal muscles from young, adult and aged mice. J Physiol 404, 71-82.
    • (1988) J Physiol , vol.404 , pp. 71-82
    • Brooks, S.V.1    Faulkner, J.A.2
  • 23
    • 0036783761 scopus 로고    scopus 로고
    • Fast-twitch skeletal muscles of dys trophic mouse pups are resistant to injury from acute mechanical stress
    • Grange, R. W., Gainer, T. G., Marschner, K. M., Talmadge, R. J. and Stull, J. T. (2002) Fast-twitch skeletal muscles of dys trophic mouse pups are resistant to injury from acute mechanical stress. Am J Physiol Cell Physiol 283, C1090-1101.
    • (2002) Am J Physiol Cell Physiol , vol.283
    • Grange, R.W.1    Gainer, T.G.2    Marschner, K.M.3    Talmadge, R.J.4    Stull, J.T.5
  • 27
    • 0021966917 scopus 로고
    • Fatiguability and oxidative capacity of forelimb and hind limb muscles of dystrophic mice
    • DOI 10.1016/0014-4886(85)90226-2
    • Parry, D. J. and Desypris, G. (1985) Fatiguability and oxidative capacity of forelimb and hind limb muscles of dystrophic mice. Exp Neurol 87, 358-368. (Pubitemid 15174409)
    • (1985) Experimental Neurology , vol.87 , Issue.2 , pp. 358-368
    • Parry, D.J.1    Desypris, G.2
  • 28
    • 0031907940 scopus 로고    scopus 로고
    • Effects of voluntary activity and genetic selection on aerobic capacity in house mice (Mus domesticus)
    • Swallow, J. G., Garland, T., Jr., Carter, P. A., Zhan, W. Z. and Sieck, G. C. (1998) Effects of voluntary activity and genetic selection on aerobic capacity in house mice (Mus domesticus). J Appl Physiol 84, 69-76. (Pubitemid 28065112)
    • (1998) Journal of Applied Physiology , vol.84 , Issue.1 , pp. 69-76
    • Swallow, J.G.1    Garland Jr., T.2    Carter, P.A.3    Zhan, W.-Z.4    Sieck, G.C.5
  • 29
    • 0034980087 scopus 로고    scopus 로고
    • Motor unit number estimation in human neurological diseases and animal models
    • DOI 10.1016/S1388-2457(01)00520-X, PII S138824570100520X
    • Shefner, J. M. (2001) Motor unit number estimation in human neurological diseases and animal models. Clin Neurophysiol 112, 955-964. (Pubitemid 32497238)
    • (2001) Clinical Neurophysiology , vol.112 , Issue.6 , pp. 955-964
    • Shefner, J.M.1
  • 30
    • 0015045633 scopus 로고
    • Electrophysiological estimation of the number of motor units within a human muscle
    • McComas, A. J., Fawcett, P. R., Campbell, M. J. and Sica, R. E. (1971) Electrophysiological estimation of the number of motor units within a human muscle. J Neurol Neurosurg Psychiatry 34, 121-131.
    • (1971) J Neurol Neurosurg Psychiatry , vol.34 , pp. 121-131
    • McComas, A.J.1    Fawcett, P.R.2    Campbell, M.J.3    Sica, R.E.4
  • 31
    • 33846902535 scopus 로고    scopus 로고
    • Method for counting motor units in mice and validation using a mathematical model
    • DOI 10.1152/jn.00904.2006
    • Major, L. A., Hegedus, J., Weber, D. J., Gordon, T. and Jones, K. E. (2007) Method for counting motor units in mice and validation using a mathematical model. J Neurophysiol 97, 1846-1856. (Pubitemid 46239551)
    • (2007) Journal of Neurophysiology , vol.97 , Issue.2 , pp. 1846-1856
    • Major, L.A.1    Hegedus, J.2    Weber, D.J.3    Gordon, T.4    Jones, K.E.5
  • 32
    • 0016685904 scopus 로고
    • Dark neurons: A significant artifact: The influence of the maturational state of neurons on the occurrence of the phenomenon
    • Ebels, E. J. (1975) Dark neurons: a significant artifact: the influence of the maturational state of neurons on the occurrence of the phenomenon. Acta Neuropathol 33, 271-273.
    • (1975) Acta Neuropathol , vol.33 , pp. 271-273
    • Ebels, E.J.1
  • 33
    • 0025328605 scopus 로고
    • Artifacts in routinely immersion fixed nervous tissue
    • Garman, R. H. (1990) Artifacts in routinely immersion fixed nervous tissue. Toxicol Pathol 18, 149-153. (Pubitemid 20198803)
    • (1990) Toxicologic Pathology , vol.18 , Issue.1 , pp. 149-153
    • Garman, R.H.1
  • 34
    • 33745056258 scopus 로고    scopus 로고
    • The return of the dark neuron. A histological artifact complicating contemporary neurotoxicologic evaluation
    • DOI 10.1016/j.neuro.2006.03.002, PII S0161813X06000490
    • Jortner, B. S. (2006) The return of the dark neuron. A histological artifact complicating contemporary neurotoxicologic evaluation. Neurotoxicology 27, 628-634. (Pubitemid 43870381)
    • (2006) NeuroToxicology , vol.27 , Issue.4 , pp. 628-634
    • Jortner, B.S.1
  • 39
    • 2942709863 scopus 로고    scopus 로고
    • Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy
    • DOI 10.1093/hmg/ddh129
    • Maddatu, T. P., Garvey, S. M., Schroeder, D. G., Hampton, T. G. and Cox, G. A. (2004) Transgenic rescue of neurogenic atrophy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy. Hum Mol Genet 13, 1105-1115. (Pubitemid 38786993)
    • (2004) Human Molecular Genetics , vol.13 , Issue.11 , pp. 1105-1115
    • Maddatu, T.P.1    Garvey, S.M.2    Schroeder, D.G.3    Hampton, T.G.4    Cox, G.A.5
  • 40
    • 34748820052 scopus 로고    scopus 로고
    • Hypoparathyroidism, retardation, and dysmorphism syndrome: Impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions
    • DOI 10.1203/PDR.0b013e31813cbf2d
    • Hershkovitz, E., Rozin, I., Limony, Y., Golan, H., Hadad, N., Gorodischer, R., et al. (2007) Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions. Pediatr Res 62, 505-509. (Pubitemid 47476214)
    • (2007) Pediatric Research , vol.62 , Issue.4 , pp. 505-509
    • Hershkovitz, E.1    Rozin, I.2    Limony, Y.3    Golan, H.4    Hadad, N.5    Gorodischer, R.6    Levy, R.7
  • 41
    • 0029127384 scopus 로고
    • The renal glomerulus of mice lacking s-laminin/laminin b2: Nephrosis despite molecular compensation by laminin b1
    • Noakes, P. G., Miner, J. H., Gautam, M., Cunningham, J. M., Sanes, J. R. and Merlie, J. P. (1995) The renal glomerulus of mice lacking s-laminin/laminin b2: nephrosis despite molecular compensation by laminin b1. Nat Genet 10, 400-406.
    • (1995) Nat Genet , vol.10 , pp. 400-406
    • Noakes, P.G.1    Miner, J.H.2    Gautam, M.3    Cunningham, J.M.4    Sanes, J.R.5    Merlie, J.P.6
  • 42
    • 33845477523 scopus 로고    scopus 로고
    • Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity
    • Zhai, R. G., Cao, Y., Hiesinger, P. R., Zhou, Y., Mehta, S. Q., Schulze, K. L., et al. (2006) Drosophila NMNAT maintains neural integrity independent of its NAD synthesis activity. PLoS Biol 4, e416.
    • (2006) PLoS Biol , vol.4
    • Zhai, R.G.1    Cao, Y.2    Hiesinger, P.R.3    Zhou, Y.4    Mehta, S.Q.5    Schulze, K.L.6
  • 43
    • 42249103603 scopus 로고    scopus 로고
    • NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration
    • DOI 10.1038/nature06721, PII NATURE06721
    • Zhai, R. G., Zhang, F., Hiesinger, P. R., Cao, Y., Haueter, C. M. and Bellen, H. J. (2008) NAD synthase NMNAT acts as a chaperone to protect against neurodegeneration. Nature 452, 887-891. (Pubitemid 351550857)
    • (2008) Nature , vol.452 , Issue.7189 , pp. 887-891
    • Zhai, R.G.1    Zhang, F.2    Hiesinger, P.R.3    Cao, Y.4    Haueter, C.M.5    Bellen, H.J.6
  • 44
    • 44949233176 scopus 로고    scopus 로고
    • Nmnat delays axonal degeneration caused by mitochondrial and oxidative stress
    • Press, C. and Milbrandt, J. (2008) Nmnat delays axonal degeneration caused by mitochondrial and oxidative stress. J Neurosci 28, 4861-4871.
    • (2008) J Neurosci , vol.28 , pp. 4861-4871
    • Press, C.1    Milbrandt, J.2
  • 46
    • 17944374029 scopus 로고    scopus 로고
    • Mutations in the gene encoding immunoglobulin-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
    • Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., et al. (2001) Mutations in the gene encoding immunoglobulin-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 29, 75-77.
    • (2001) Nat Genet , vol.29 , pp. 75-77
    • Grohmann, K.1    Schuelke, M.2    Diers, A.3    Hoffmann, K.4    Lucke, B.5    Adams, C.6
  • 47
    • 0032408306 scopus 로고    scopus 로고
    • Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele
    • DOI 10.1016/S0896-6273(00)80652-2
    • Cox, G. A., Mahaffey, C. L. and Frankel, W. N. (1998) Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. Neuron 21, 1327-1337. (Pubitemid 29022535)
    • (1998) Neuron , vol.21 , Issue.6 , pp. 1327-1337
    • Cox, G.A.1    Mahaffey, C.L.2    Frankel, W.N.3
  • 52
  • 53
    • 0037175395 scopus 로고    scopus 로고
    • Missense mutation in the tubulin-specific chaperone e (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease
    • Bommel, H., Xie, G., Rossoll, W., Wiese, S., Jablonka, S., Boehm, T., et al. (2002) Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. J Cell Biol 159, 563-569.
    • (2002) J Cell Biol , vol.159 , pp. 563-569
    • Bommel, H.1    Xie, G.2    Rossoll, W.3    Wiese, S.4    Jablonka, S.5    Boehm, T.6
  • 55
    • 45749094601 scopus 로고    scopus 로고
    • Glued subunit of dynactin
    • DOI 10.1093/hmg/ddn092
    • Chevalier-Larsen, E. S., Wallace, K. E., Pennise, C. R. and Holzbaur, E. L. (2008) Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin. Hum Mol Genet 17, 1946-1955. (Pubitemid 351865843)
    • (2008) Human Molecular Genetics , vol.17 , Issue.13 , pp. 1946-1955
    • Chevalier-Larsen, E.S.1    Wallace, K.E.2    Pennise, C.R.3    Holzbaur, E.L.F.4
  • 56
    • 38449097283 scopus 로고    scopus 로고
    • glued causes dysfunction of dynactin in mice
    • DOI 10.1523/JNEUROSCI.4226-07.2007
    • Lai, C., Lin, X., Chandran, J., Shim, H., Yang, W. J. and Cai, H. (2007) The G59S mutation in p150(glued) causes dysfunction of dynactin in mice. J Neurosci 27, 13982-13990. (Pubitemid 351377874)
    • (2007) Journal of Neuroscience , vol.27 , Issue.51 , pp. 13982-13990
    • Lai, C.1    Lin, X.2    Chandran, J.3    Shim, H.4    Yang, W.-J.5    Cai, H.6
  • 58
    • 0028888945 scopus 로고
    • Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis
    • Ripps, M. E., Huntley, G. W., Hof, P. R., Morrison, J. H. and Gordon, J. W. (1995) Transgenic mice expressing an altered murine superoxide dismutase gene provide an animal model of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 92, 689-693.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 689-693
    • Ripps, M.E.1    Huntley, G.W.2    Hof, P.R.3    Morrison, J.H.4    Gordon, J.W.5
  • 59
    • 0034537966 scopus 로고    scopus 로고
    • Genetic mapping of a mouse modifier gene that can prevent ALS onset
    • DOI 10.1006/geno.2000.6379
    • Kunst, C. B., Messer, L., Gordon, J., Haines, J. and Patterson, D. (2000) Genetic mapping of a mouse modifier gene that can prevent ALS onset. Genomics 70, 181-189. (Pubitemid 32003395)
    • (2000) Genomics , vol.70 , Issue.2 , pp. 181-189
    • Kunst, C.B.1    Messer, L.2    Gordon, J.3    Haines, J.4    Patterson, D.5
  • 61
    • 0036076642 scopus 로고    scopus 로고
    • Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site
    • DOI 10.1006/nbdi.2002.0498
    • Wang, J., Xu, G., Gonzales, V., Coonfield, M., Fromholt, D., Copeland, N. G., et al. (2002) Fibrillar inclusions and motor neuron degeneration in transgenic mice expressing superoxide dismutase 1 with a disrupted copper-binding site. Neurobiol Dis 10, 128-138. (Pubitemid 34775466)
    • (2002) Neurobiology of Disease , vol.10 , Issue.2 , pp. 128-138
    • Wang, J.1    Xu, G.2    Gonzales, V.3    Coonfield, M.4    Fromholt, D.5    Copeland, N.G.6    Jenkins, N.A.7    Borchelt, D.R.8
  • 62
    • 0029053881 scopus 로고
    • An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
    • Wong, P. C., Pardo, C. A., Borchelt, D. R., Lee, M. K., Copeland, N. G., Jenkins, N. A., et al. (1995) An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14, 1105-1116.
    • (1995) Neuron , vol.14 , pp. 1105-1116
    • Wong, P.C.1    Pardo, C.A.2    Borchelt, D.R.3    Lee, M.K.4    Copeland, N.G.5    Jenkins, N.A.6
  • 65
    • 0022976796 scopus 로고
    • Autosomal dominance in a late-onset motor neuron disease in the mouse
    • Messer, A. and Flaherty, L. (1986) Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet 3, 345-355. (Pubitemid 17186032)
    • (1986) Journal of Neurogenetics , vol.3 , Issue.6 , pp. 345-355
    • Messer, A.1    Flaherty, L.2
  • 66
    • 0027453099 scopus 로고
    • Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)
    • Bronson, R. T., Lake, B. D., Cook, S., Taylor, S. and Davisson, M. T. (1993) Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). Ann Neurol 33, 381-385. (Pubitemid 23103970)
    • (1993) Annals of Neurology , vol.33 , Issue.4 , pp. 381-385
    • Bronson, R.T.1    Lake, B.D.2    Cook, S.3    Taylor, S.4    Davisson, M.T.5
  • 69
    • 37549068958 scopus 로고    scopus 로고
    • Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene
    • Chen, X. J., Levedakou, E. N., Millen, K. J., Wollmann, R. L., Soliven, B. and Popko, B. (2007) Proprioceptive sensory neuropathy in mice with a mutation in the cytoplasmic Dynein heavy chain 1 gene. J Neurosci 27, 14515-14524.
    • (2007) J Neurosci , vol.27 , pp. 14515-14524
    • Chen, X.J.1    Levedakou, E.N.2    Millen, K.J.3    Wollmann, R.L.4    Soliven, B.5    Popko, B.6
  • 70
    • 50449101429 scopus 로고    scopus 로고
    • Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death
    • Ilieva, H. S., Yamanaka, K., Malkmus, S., Kakinohana, O., Yaksh, T., Marsala,M., et al. (2008) Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death. Proc Natl Acad Sci USA 105, 12599-12604.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 12599-12604
    • Ilieva, H.S.1    Yamanaka, K.2    Malkmus, S.3    Kakinohana, O.4    Marsalam, Y.T.5
  • 71
    • 58049192812 scopus 로고    scopus 로고
    • Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
    • Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., et al. (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 84, 85-88.
    • (2009) Am J Hum Genet , vol.84 , pp. 85-88
    • Chow, C.Y.1    Landers, J.E.2    Bergren, S.K.3    Sapp, P.C.4    Grant, A.E.5    Jones, J.M.6
  • 73
    • 49449098975 scopus 로고    scopus 로고
    • Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
    • Zhang, X., Chow, C. Y., Sahenk, Z., Shy, M. E., Meisler, M. H. and Li, J. (2008) Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 131, 1990-2001.
    • (2008) Brain , vol.131 , pp. 1990-2001
    • Zhang, X.1    Chow, C.Y.2    Sahenk, Z.3    Shy, M.E.4    Meisler, M.H.5    Li, J.6
  • 76
    • 0026615047 scopus 로고
    • Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
    • Giese, K. P., Martini, R., Lemke, G., Soriano, P. and Schachner, M. (1992) Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71, 565-576.
    • (1992) Cell , vol.71 , pp. 565-576
    • Giese, K.P.1    Martini, R.2    Lemke, G.3    Soriano, P.4    Schachner, M.5
  • 77
    • 0034611010 scopus 로고    scopus 로고
    • P(0)glycoprotein overexpression causes congenital hypomyelination of peripheral nerves
    • Wrabetz, L., Feltri, M. L., Quattrini, A., Imperiale, D., Previtali, S., D'Antonio, M., et al. (2000) P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves. J Cell Biol 148, 1021-1034.
    • (2000) J Cell Biol , vol.148 , pp. 1021-1034
    • Wrabetz, L.1    Feltri, M.L.2    Quattrini, A.3    Imperiale, D.4    Previtali, S.5    D'Antonio, M.6
  • 84
    • 38349185051 scopus 로고    scopus 로고
    • Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A
    • Detmer, S. A., Vande Velde, C., Cleveland, D.W. and Chan, D. C. (2008) Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A. Hum Mol Genet 17, 367-375.
    • (2008) Hum Mol Genet , vol.17 , pp. 367-375
    • Detmer, S.A.1    Vande Velde, C.2    Cleveland, D.W.3    Chan, D.C.4
  • 85
    • 0028116467 scopus 로고
    • A mutant neurofilament subunit causes massive, selective motor neuron death: Implications for the pathogenesis of human motor neuron disease
    • DOI 10.1016/0896-6273(94)90263-1
    • Lee, M. K., Marszalek, J. R. and Cleveland, D. W. (1994) A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease. Neuron 13, 975-988. (Pubitemid 24347310)
    • (1994) Neuron , vol.13 , Issue.4 , pp. 975-988
    • Lee, M.K.1    Marszalek, J.R.2    Cleveland, D.W.3
  • 86
    • 0031263931 scopus 로고    scopus 로고
    • Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments
    • Zhu, Q., Couillard-Despres, S. and Julien, J. P. (1997) Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments. Exp Neurol 148, 299-316. (Pubitemid 127445138)
    • (1997) Experimental Neurology , vol.148 , Issue.1 , pp. 299-316
    • Zhu, Q.1    Couillard-Despres, S.2    Julien, J.-P.3
  • 87
    • 35348844114 scopus 로고    scopus 로고
    • Insights into function and regulation of small heat shock protein 25 (HSPB1) in a mouse model with targeted gene disruption
    • DOI 10.1002/dvg.20319
    • Huang, L., Min, J. N., Masters, S., Mivechi, N. F. and Moskophidis, D. (2007) Insights into function and regulation of small heat shock protein 25 (HSPB1) in a mouse model with targeted gene disruption. Genesis 45, 487-501. (Pubitemid 47584207)
    • (2007) Genesis , vol.45 , Issue.8 , pp. 487-501
    • Huang, L.1    Min, J.-N.2    Masters, S.3    Mivechi, N.F.4    Moskophidis, D.5
  • 90
    • 0037079059 scopus 로고    scopus 로고
    • Roles of neurotransmitter in synapse formation: Development of neuromuscular junctions lacking choline acetyltransferase
    • DOI 10.1016/S0896-6273(02)01020-6
    • Misgeld, T., Burgess, R. W., Lewis, R. M., Cunningham, J. M., Lichtman, J. W. and Sanes, J. R. (2002) Roles of neurotransmitter in synapse formation. Development of neuromuscular junctions lacking choline acetyltransferase. Neuron 36, 635-648. (Pubitemid 35346757)
    • (2002) Neuron , vol.36 , Issue.4 , pp. 635-648
    • Misgeld, T.1    Burgess, R.W.2    Lewis, R.M.3    Cunningham, J.M.4    Lichtman, J.W.5    Sanes, J.R.6
  • 91
    • 0042532329 scopus 로고    scopus 로고
    • Genetic evidence that relative synaptic efficacy biases the outcome of synaptic competition
    • DOI 10.1038/nature01844
    • Buffelli, M., Burgess, R. W., Feng, G., Lobe, C. G., Lichtman, J. W. and Sanes, J. R. (2003) Genetic evidence that relative synaptic efficacy biases the outcome of synaptic competition. Nature 424, 430-434. (Pubitemid 36917491)
    • (2003) Nature , vol.424 , Issue.6947 , pp. 430-434
    • Buffelli, M.1    Burgess, R.W.2    Feng, G.3    Lobe, C.G.4    Lichtman, J.W.5    Sanes, J.R.6
  • 93
    • 0033594106 scopus 로고    scopus 로고
    • Genetic analysis of collagen Q: Roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function
    • DOI 10.1083/jcb.144.6.1349
    • Feng, G., Krejci, E., Molgo, J., Cunningham, J. M., Massoulie, J. and Sanes, J. R. (1999) Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function. J Cell Biol 144, 1349-1360. (Pubitemid 29157310)
    • (1999) Journal of Cell Biology , vol.144 , Issue.6 , pp. 1349-1360
    • Feng, G.1    Krejci, E.2    Molgo, J.3    Cunningham, J.M.4    Massoulie, J.5    Sanes, J.R.6
  • 94
    • 4243100595 scopus 로고    scopus 로고
    • Reduced acetylcholine receptor density, morphological remodeling, and butyrylcholinesterase activity can sustain muscle function in acetylcholinesterase knockout mice
    • DOI 10.1002/mus.20099
    • Adler, M., Manley, H. A., Purcell, A. L., Deshpande, S. S., Hamilton, T. A., Kan, R. K., et al. (2004) Reduced acetylcholine receptor density, morphological remodeling, and butyrylcholinesterase activity can sustain muscle function in acetylcholinesterase knockout mice. Muscle Nerve 30, 317-327. (Pubitemid 39108997)
    • (2004) Muscle and Nerve , vol.30 , Issue.3 , pp. 317-327
    • Adler, M.1    Manley, H.A.2    Purcell, A.L.3    Deshpande, S.S.4    Hamilton, T.A.5    Kan, R.K.6    Oyler, G.7    Lockridge, O.8    Duysen, E.G.9    Sheridan, R.E.10
  • 95
    • 0037012468 scopus 로고    scopus 로고
    • Acetylcholinesterase knockouts establish central cholinergic pathways and can use butyrylcholinesterase to hydrolyze acetylcholine
    • DOI 10.1016/S0306-4522(01)00613-3, PII S0306452201006133
    • Mesulam, M. M., Guillozet, A., Shaw, P., Levey, A., Duysen, E. G. and Lockridge, O. (2002) Acetylcholinesterase knockouts establish central cholinergic pathways and can use butyrylcholinesterase to hydrolyze acetylcholine. Neuroscience 110, 627-639. (Pubitemid 34270534)
    • (2002) Neuroscience , vol.110 , Issue.4 , pp. 627-639
    • Mesulam, M.-M.1    Guillozet, A.2    Shaw, P.3    Levey, A.4    Duysen, E.G.5    Lockridge, O.6
  • 96
    • 0033137032 scopus 로고    scopus 로고
    • Alternatively spliced isoforms of nerve- and muscle-derived agrin: Their roles at the neuromuscular junction
    • DOI 10.1016/S0896-6273(00)80751-5
    • Burgess, R. W., Nguyen, Q. T., Son, Y. J., Lichtman, J. W. and Sanes, J. R. (1999) Alternatively spliced isoforms of nerve-and muscle-derived agrin: their roles at the neuromuscular junction. Neuron 23, 33-44. (Pubitemid 29262462)
    • (1999) Neuron , vol.23 , Issue.1 , pp. 33-44
    • Burgess, R.W.1    Nguyen, Q.T.2    Young-Jin, S.3    Lichtman, J.W.4    Sanes, J.R.5
  • 97
    • 0034597091 scopus 로고    scopus 로고
    • Agrin isoforms with distinct amino termini: Differential expression, localization, and function
    • Burgess, R. W., Skarnes, W. C. and Sanes, J. R. (2000) Agrin isoforms with distinct amino termini: differential expression, localization, and function. J Cell Biol 151, 41-52.
    • (2000) J Cell Biol , vol.151 , pp. 41-52
    • Burgess, R.W.1    Skarnes, W.C.2    Sanes, J.R.3
  • 98
    • 0035953645 scopus 로고    scopus 로고
    • Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse
    • DOI 10.1038/35074025
    • Lin, W., Burgess, R. W., Dominguez, B., Pfaff, S. L., Sanes, J. R. and Lee, K. F. (2001) Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse. Nature 410, 1057-1064. (Pubitemid 32391032)
    • (2001) Nature , vol.410 , Issue.6832 , pp. 1057-1064
    • Lin, W.1    Burgess, R.W.2    Dominguez, B.3    Pfaff, S.L.4    Sanes, J.R.5    Lee, K.-F.6
  • 100
    • 0029893117 scopus 로고    scopus 로고
    • Defective neuromuscular synaptogenesis in agrin-deficient mutant mice
    • DOI 10.1016/S0092-8674(00)81253-2
    • Gautam, M., Noakes, P. G., Moscoso, L., Rupp, F., Scheller, R. H., Merlie, J. P., et al. (1996) Defective neuromuscular synaptogenesis in agrin-deficient mutant mice. Cell 85, 525-535. (Pubitemid 26157191)
    • (1996) Cell , vol.85 , Issue.4 , pp. 525-535
    • Gautam, M.1    Noakes, P.G.2    Moscoso, L.3    Rupp, F.4    Scheller, R.H.5    Merlie, J.P.6    Sanes, J.R.7
  • 102
    • 33846155569 scopus 로고    scopus 로고
    • LDL-receptor-related protein 4 is crucial for formation of the neuromuscular junction
    • DOI 10.1242/dev.02696
    • Weatherbee, S. D., Anderson, K. V. and Niswander, L. A. (2006) LDL-receptorrelated protein 4 is crucial for formation of the neuromuscular junction. Development 133, 4993-5000. (Pubitemid 46085064)
    • (2006) Development , vol.133 , Issue.24 , pp. 4993-5000
    • Weatherbee, S.D.1    Anderson, K.V.2    Niswander, L.A.3
  • 103
    • 0029050847 scopus 로고
    • Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice
    • 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
  • 105
    • 0028908326 scopus 로고
    • Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2
    • Noakes, P. G., Gautam, M., Mudd, J., Sanes, J. R. and Merlie, J. P. (1995) Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2. Nature 374, 258-262.
    • (1995) Nature , vol.374 , pp. 258-262
    • Noakes, P.G.1    Gautam, M.2    Mudd, J.3    Sanes, J.R.4    Merlie, J.P.5
  • 106
    • 38349078279 scopus 로고    scopus 로고
    • Synaptic differentiation is defective in mice lacking acetylcholine receptor betasubunit tyrosine phosphorylation
    • Friese, M. B., Blagden, C. S. and Burden, S. J. (2007) Synaptic differentiation is defective in mice lacking acetylcholine receptor betasubunit tyrosine phosphorylation. Development 134, 4167-4176.
    • (2007) Development , vol.134 , pp. 4167-4176
    • Friese, M.B.1    Blagden, C.S.2    Burden, S.J.3
  • 107
    • 0031457057 scopus 로고    scopus 로고
    • Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit
    • Missias, A. C., Mudd, J., Cunningham, J. M., Steinbach, J. H., Merlie, J. P. and Sanes, J. R. (1997) Deficient development and maintenance of postsynaptic specializations in mutant mice lacking an 'adult' acetylcholine receptor subunit. Development 124, 5075-5086. (Pubitemid 28025131)
    • (1997) Development , vol.124 , Issue.24 , pp. 5075-5086
    • Missias, A.C.1    Mudd, J.2    Cunningham, J.M.3    Steinbach, J.H.4    Merlie, J.P.5    Sanes, J.R.6
  • 109
    • 0036023964 scopus 로고    scopus 로고
    • Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors
    • Takahashi, M., Kubo, T., Mizoguchi, A., Carlson, C. G., Endo, K. and Ohnishi, K. (2002) Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors. EMBO Rep 3, 674-681.
    • (2002) EMBO Rep , vol.3 , pp. 674-681
    • Takahashi, M.1    Kubo, T.2    Mizoguchi, A.3    Carlson, C.G.4    Endo, K.5    Ohnishi, K.6
  • 110
    • 22144477201 scopus 로고    scopus 로고
    • Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle
    • DOI 10.1038/sj.embor.7400429
    • Koenen, M., Peter, C., Villarroel, A., Witzemann, V. and Sakmann, B. (2005) Acetylcholine receptor channel subtype directs the innervation pattern of skeletal muscle. EMBO Rep 6, 570-576. (Pubitemid 40973967)
    • (2005) EMBO Reports , vol.6 , Issue.6 , pp. 570-576
    • Koenen, M.1    Peter, C.2    Villarroel, A.3    Witzemann, V.4    Sakmann, B.5
  • 112
    • 0024353559 scopus 로고
    • The molecular basis of muscular dystrophy in the mdx mouse: A point mutation
    • Sicinski, P., Geng, Y., Ryder Cook, A. S., Barnard, E. A., Darlison, M. G. and Barnard, P. J. (1989) The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science 244, 1578-1580. (Pubitemid 19189735)
    • (1989) Science , vol.244 , Issue.4912 , pp. 1578-1580
    • Sicinski, P.1    Geng, Y.2    Ryder-Cook, A.S.3    Barnard, E.A.4    Darlison, M.G.5    Barnard, P.J.6
  • 114
    • 0026638903 scopus 로고
    • The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy
    • Danko, I., Chapman, V. and Wolff, J. A. (1992) The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy. Pediatr Res 32, 128-131.
    • (1992) Pediatr Res , vol.32 , pp. 128-131
    • Danko, I.1    Chapman, V.2    Wolff, J.A.3
  • 115
    • 0027273835 scopus 로고
    • New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin
    • DOI 10.1038/ng0593-87
    • Cox, G. A., Phelps, S. F., Chapman, V. M. and Chamberlain, J. S. (1993) New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin. Nature Genetics 4, 87-93. (Pubitemid 23165920)
    • (1993) Nature Genetics , vol.4 , Issue.1 , pp. 87-93
    • Cox, G.A.1    Phelps, S.F.2    Chapman, V.M.3    Chamberlain, J.S.4
  • 116
    • 0029820310 scopus 로고    scopus 로고
    • Differential expression of dystrophin isoforms in strains of mdx mice with different mutations
    • Im, W. B., Phelps, S. F., Copen, E. H., Adams, E. G., Slightom, J. L. and Chamberlain, J. S. (1996) Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet 5, 1149-1153. (Pubitemid 26318554)
    • (1996) Human Molecular Genetics , vol.5 , Issue.8 , pp. 1149-1153
    • Im, W.B.1    Phelps, S.F.2    Copen, E.H.3    Adams, E.G.4    Slightom, J.L.5    Chamberlain, J.S.6
  • 118
    • 13444274511 scopus 로고    scopus 로고
    • A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre-loxP recombination system
    • DOI 10.1016/j.bbrc.2004.12.191
    • Kudoh, H., Ikeda, H., Kakitani, M., Ueda, A.,Hayasaka, M., Tomizuka, K., et al. (2005) A new model mouse for Duchenne muscular dystrophy produced by 2.4 Mb deletion of dystrophin gene using Cre-loxP recombination system. Biochem Biophys Res Commun 328, 507-516. (Pubitemid 40208339)
    • (2005) Biochemical and Biophysical Research Communications , vol.328 , Issue.2 , pp. 507-516
    • Kudoh, H.1    Ikeda, H.2    Kakitani, M.3    Ueda, A.4    Hayasaka, M.5    Tomizuka, K.6    Hanaoka, K.7
  • 119
    • 0034975777 scopus 로고    scopus 로고
    • Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
    • DOI 10.1038/88865
    • Grewal, P. K., Holzfeind, P. J., Bittner, R. E. and Hewitt, J. E. (2001) Mutant glycosyltransferase and altered glycosylation of alphadystroglycan in the myodystrophy mouse. Nat Genet 28, 151-154. (Pubitemid 32538060)
    • (2001) Nature Genetics , vol.28 , Issue.2 , pp. 151-154
    • Grewal, P.K.1    Holzfeind, P.J.2    Bittner, R.E.3    Hewitt, J.E.4
  • 122
    • 0000186844 scopus 로고
    • Dystrophia muscularis: A hereditary primary myopathy in the house mouse
    • Michelson, A. M., Russell, E. S. and Harman, P. J. (1955) Dystrophia muscularis: a hereditary primary myopathy in the house mouse. Proc Natl Acad Sci USA 12, 1079-1084.
    • (1955) Proc Natl Acad Sci USA , vol.12 , pp. 1079-1084
    • Michelson, A.M.1    Russell, E.S.2    Harman, P.J.3
  • 123
    • 0030610896 scopus 로고    scopus 로고
    • Laminin α2 chain-null mutant mice by targeted disruption of the Lama2 gene: A new model of merosin (laminin 2)-deficient congenital muscular dystrophy
    • DOI 10.1016/S0014-5793(97)01007-7, PII S0014579397010077
    • Miyagoe, Y., Hanaoka, K., Nonaka, I., Hayasaka, M., Nabeshima, Y., Arahata, K., et al. (1997) Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. FEBS Lett 415, 33-39. (Pubitemid 27402044)
    • (1997) FEBS Letters , vol.415 , Issue.1 , pp. 33-39
    • Miyagoe, Y.1    Hanaoka, K.2    Nonaka, I.3    Hayasaka, M.4    Nabeshima, Y.5    Arahata, K.6    Nabeshima, Y.-I.7    Takeda, S.8
  • 124
    • 46249110939 scopus 로고    scopus 로고
    • A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination
    • DOI 10.1242/jcs.015354
    • Patton, B. L., Wang, B., Tarumi, Y. S., Seburn, K. L. and Burgess, R. W. (2008) A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination. J Cell Sci 121, 1593-1604. (Pubitemid 351911816)
    • (2008) Journal of Cell Science , vol.121 , Issue.10 , pp. 1593-1604
    • Patton, B.L.1    Wang, B.2    Tarumi, Y.S.3    Seburn, K.L.4    Burgess, R.W.5
  • 125
    • 0029024847 scopus 로고
    • Identification of a novel mutant transcript of laminin a2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice
    • Sunada, Y., Bernier, S. M., Utani, A., Yamada, Y. and Campbell, K. P. (1995) Identification of a novel mutant transcript of laminin a2 chain gene responsible for muscular dystrophy and dysmyelination in dy2J mice. Hum Mol Genet 4, 1055-1061.
    • (1995) Hum Mol Genet , vol.4 , pp. 1055-1061
    • Sunada, Y.1    Bernier, S.M.2    Utani, A.3    Yamada, Y.4    Campbell, K.P.5
  • 129
  • 130
    • 0031760509 scopus 로고    scopus 로고
    • Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
    • Bonaldo, P., Braghetta, P., Zanetti, M., Piccolo, S., Volpin, D. and Bressan, G. M. (1998) Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum Mol Genet 7, 2135-2140. (Pubitemid 28546424)
    • (1998) Human Molecular Genetics , vol.7 , Issue.13 , pp. 2135-2140
    • Bonaldo, P.1    Braghetta, P.2    Zanetti, M.3    Piccolo, S.4    Volpin, D.5    Bressan, G.M.6
  • 133
    • 0035877753 scopus 로고    scopus 로고
    • Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities
    • Galbiati, F., Engelman, J. A., Volonte, D., Zhang, X. L., Minetti, C., Li, M., et al. (2001) Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem 276, 21425-21433.
    • (2001) J Biol Chem , vol.276 , pp. 21425-21433
    • Galbiati, F.1    Engelman, J.A.2    Volonte, D.3    Zhang, X.L.4    Minetti, C.5    Li, M.6
  • 134
    • 0036311912 scopus 로고    scopus 로고
    • Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period
    • DOI 10.1128/MCB.22.16.5887-5896.2002
    • Crawford, K., Flick, R., Close, L., Shelly, D., Paul, R., Bove, K., et al. (2002) Mice lacking skeletal muscle actin show reduced muscle strength and growth deficits and die during the neonatal period. Mol Cell Biol 22, 5887-5896. (Pubitemid 34815837)
    • (2002) Molecular and Cellular Biology , vol.22 , Issue.16 , pp. 5887-5896
    • Crawford, K.1    Flick, R.2    Close, L.3    Shelly, D.4    Paul, R.5    Bove, K.6    Kumar, A.7    Lessard, J.8
  • 136
    • 0035707910 scopus 로고    scopus 로고
    • The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
    • DOI 10.1006/geno.2002.6685
    • Garvey, S. M., Rajan, C., Lerner, A. P., Frankel, W. N. and Cox, G. A. (2002) The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal musclespecific domain of titin. Genomics 79, 146-149. (Pubitemid 34124016)
    • (2001) Genomics , vol.79 , Issue.2 , pp. 146-149
    • Garvey, S.M.1    Rajan, C.2    Lerner, A.P.3    Frankel, W.N.4    Cox, G.A.5
  • 138
    • 2342596403 scopus 로고    scopus 로고
    • A Titin mutation defines roles for circulation in endothelial morphogenesis
    • DOI 10.1016/j.ydbio.2004.02.006, PII S0012160604001204
    • May, S. R., Stewart, N. J., Chang, W. and Peterson, A. S. (2004) A Titin mutation defines roles for circulation in endothelial morphogenesis. Dev Biol 270, 31-46. (Pubitemid 38596927)
    • (2004) Developmental Biology , vol.270 , Issue.1 , pp. 31-46
    • May, S.R.1    Stewart, N.J.2    Chang, W.3    Peterson, A.S.4
  • 141
    • 60849131479 scopus 로고    scopus 로고
    • Mutation in BAG3 causes severe dominant childhood muscular dystrophy
    • Selcen, D., Muntoni, F., Burton, B. K., Pegoraro, E., Sewry, C., Bite, A. V., et al. (2009) Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 65, 83-89.
    • (2009) Ann Neurol , vol.65 , pp. 83-89
    • Selcen, D.1    Muntoni, F.2    Burton, B.K.3    Pegoraro, E.4    Sewry, C.5    Bite, A.V.6
  • 143
    • 0029738727 scopus 로고    scopus 로고
    • Disruption of muscle architecture and myocardial degeneration in mice lacking desmin
    • Milner, D. J., Weitzer, G., Tran, D., Bradley, A. and Capetanaki, Y. (1996) Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 134, 1255-1270. (Pubitemid 26300170)
    • (1996) Journal of Cell Biology , vol.134 , Issue.5 , pp. 1255-1270
    • Milner, D.J.1    Weitzer, G.2    Tran, D.3    Bradley, A.4    Capetanaki, Y.5
  • 145
    • 33845801599 scopus 로고    scopus 로고
    • Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice
    • DOI 10.1128/MCB.00561-06
    • Moza, M., Mologni, L., Trokovic, R., Faulkner, G., Partanen, J. and Carpen, O. (2007) Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice. Mol Cell Biol 27, 244-252. (Pubitemid 46013248)
    • (2007) Molecular and Cellular Biology , vol.27 , Issue.1 , pp. 244-252
    • Moza, M.1    Mologni, L.2    Trokovic, R.3    Faulkner, G.4    Partanen, J.5    Carpen, O.6
  • 146
    • 33747884386 scopus 로고    scopus 로고
    • Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM
    • DOI 10.1093/hmg/ddl160
    • Garvey, S. M., Miller, S. E., Claflin, D. R., Faulkner, J. A. and Hauser, M. A. (2006) Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Hum Mol Genet 15, 2348-2362. (Pubitemid 44288680)
    • (2006) Human Molecular Genetics , vol.15 , Issue.15 , pp. 2348-2362
    • Garvey, S.M.1    Miller, S.E.2    Claflin, D.R.3    Faulkner, J.A.4    Hauser, M.A.5
  • 149
    • 0033615969 scopus 로고    scopus 로고
    • Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
    • Sullivan, T., Escalante-Alcalde, D., Bhatt, H., Anver, M., Bhat, N., Nagashima, K., et al. (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147, 913-920.
    • (1999) J Cell Biol , vol.147 , pp. 913-920
    • Sullivan, T.1    Escalante-Alcalde, D.2    Bhatt, H.3    Anver, M.4    Bhat, N.5    Nagashima, K.6
  • 151
    • 24944447977 scopus 로고    scopus 로고
    • Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency
    • DOI 10.1093/hmg/ddi307
    • Diaz, F., Thomas, C. K., Garcia, S., Hernandez, D. and Moraes, C. T. (2005) Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency. Hum Mol Genet 14, 2737-2748. (Pubitemid 41300646)
    • (2005) Human Molecular Genetics , vol.14 , Issue.18 , pp. 2737-2748
    • Diaz, F.1    Thomas, C.K.2    Garcia, S.3    Hernandez, D.4    Moraes, C.T.5
  • 152
    • 0034622926 scopus 로고    scopus 로고
    • Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
    • Mankodi, A., Logigian, E., Callahan, L., McClain, C., White, R., Henderson, D., et al. (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289, 1769-1773.
    • (2000) Science , vol.289 , pp. 1769-1773
    • Mankodi, A.1    Logigian, E.2    Callahan, L.3    McClain, C.4    White, R.5    Henderson, D.6
  • 157
    • 35549010650 scopus 로고    scopus 로고
    • A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    • DOI 10.1093/hmg/ddm220
    • Malicdan, M. C., Noguchi, S., Nonaka, I., Hayashi, Y. K. and Nishino, I. (2007) A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum Mol Genet 16, 2669-2682. (Pubitemid 350018509)
    • (2007) Human Molecular Genetics , vol.16 , Issue.22 , pp. 2669-2682
    • Malicdan, M.C.V.1    Noguchi, S.2    Nonaka, I.3    Hayashi, Y.K.4    Nishino, I.5
  • 159
    • 0034983538 scopus 로고    scopus 로고
    • Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation
    • DOI 10.1016/S0896-6273(01)00287-2
    • Yang, X., Arber, S., William, C., Li, L., Tanabe, Y., Jessell, T. M., et al. (2001) Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron 30, 399-410. (Pubitemid 32530584)
    • (2001) Neuron , vol.30 , Issue.2 , pp. 399-410
    • Yang, X.1    Arber, S.2    William, C.3    Li, L.4    Tanabe, Y.5    Jessell, T.M.6    Birchmeier, C.7    Burden, S.J.8
  • 160
    • 0033180516 scopus 로고    scopus 로고
    • Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity
    • DOI 10.1016/S0896-6273(01)80026-X
    • Arber, S., Han, B., Mendelsohn, M., Smith, M., Jessell, T. M. and Sockanathan, S. (1999) Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity. Neuron 23, 659-674. (Pubitemid 29411557)
    • (1999) Neuron , vol.23 , Issue.4 , pp. 659-674
    • Arber, S.1    Han, B.2    Mendelsohn, M.3    Smith, M.4    Jessell, T.M.5    Sockanathan, S.6
  • 161
    • 0038561092 scopus 로고    scopus 로고
    • β1 Integrins regulate myoblast fusion and sarcomere assembly
    • DOI 10.1016/S1534-5807(03)00118-7, PII S1534580703001187
    • Schwander, M., Leu, M., Stumm, M., Dorchies, O. M., Ruegg, U. T., Schittny, J., et al. (2003) Beta1 integrins regulate myoblast fusion and sarcomere assembly. Dev Cell 4, 673-685. (Pubitemid 36564898)
    • (2003) Developmental Cell , vol.4 , Issue.5 , pp. 673-685
    • Schwander, M.1    Leu, M.2    Stumm, M.3    Dorchies, O.M.4    Ruegg, U.T.5    Schittny, J.6    Muller, U.7
  • 162
    • 0032214652 scopus 로고    scopus 로고
    • A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance
    • Bruning, J. C., Michael, M. D., Winnay, J. N., Hayashi, T., Horsch, D., Accili, D., et al. (1998) A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance. Mol Cell 2, 559-569. (Pubitemid 128379082)
    • (1998) Molecular Cell , vol.2 , Issue.5 , pp. 559-569
    • Bruning, J.C.1    Michael, M.D.2    Winnay, J.N.3    Hayashi, T.4    Horsch, D.5    Accili, D.6    Goodyear, L.J.7    Kahn, C.R.8
  • 163
    • 0034535222 scopus 로고    scopus 로고
    • Early myotome specification regulates PDGFA expression and axial skeleton development
    • Tallquist, M. D., Weismann, K. E., Hellstrom, M. and Soriano, P. (2000) Early myotome specification regulates PDGFA expression and axial skeleton development. Development 127, 5059-5070. (Pubitemid 32000664)
    • (2000) Development , vol.127 , Issue.23 , pp. 5059-5070
    • Tallquist, M.D.1    Weismann, K.E.2    Hellstrom, M.3    Soriano, P.4
  • 165
    • 44349113029 scopus 로고    scopus 로고
    • Single-neuron labeling with inducible Cre-mediated knockout in transgenic mice
    • DOI 10.1038/nn.2118, PII NN2118
    • Young, P., Qiu, L., Wang, D., Zhao, S., Gross, J. and Feng, G. (2008) Single-neuron labeling with inducible Cre-mediated knockout in transgenic mice. Nat Neurosci 11, 721-728. (Pubitemid 351748115)
    • (2008) Nature Neuroscience , vol.11 , Issue.6 , pp. 721-728
    • Young, P.1    Qiu, L.2    Wang, D.3    Zhao, S.4    Gross, J.5    Feng, G.6
  • 166
    • 0033634813 scopus 로고    scopus 로고
    • Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP
    • Feng, G., Mellor, R. H., Bernstein, M., Keller-Peck, C., Nguyen, Q. T., Wallace, M., et al. (2000) Imaging neuronal subsets in transgenic mice expressing multiple spectral variants of GFP. Neuron 28, 41-51.
    • (2000) Neuron , vol.28 , pp. 41-51
    • Feng, G.1    Mellor, R.H.2    Bernstein, M.3    Keller-Peck, C.4    Nguyen, Q.T.5    Wallace, M.6
  • 169
    • 0037047320 scopus 로고    scopus 로고
    • Directed differentiation of embryonic stem cells into motor neurons
    • Wichterle, H., Lieberam, I., Porter, J. A. and Jessell, T. M. (2002) Directed differentiation of embryonic stem cells into motor neurons. Cell 110, 385-397.
    • (2002) Cell , vol.110 , pp. 385-397
    • Wichterle, H.1    Lieberam, I.2    Porter, J.A.3    Jessell, T.M.4
  • 170
    • 35948992641 scopus 로고    scopus 로고
    • Transgenic strategies for combinatorial expression of fluorescent proteins in the nervous system
    • DOI 10.1038/nature06293, PII NATURE06293
    • Livet, J., Weissman, T. A., Kang, H., Draft, R. W., Lu, J., Bennis, R. A., et al. (2007) Transgenic strategies for combinatorial expression of fluorescent proteins in the nervous system. Nature 450, 56-62. (Pubitemid 350070576)
    • (2007) Nature , vol.450 , Issue.7166 , pp. 56-62
    • Livet, J.1    Weissman, T.A.2    Kang, H.3    Draft, R.W.4    Lu, J.5    Bennis, R.A.6    Sanes, J.R.7    Lichtman, J.W.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.