메뉴 건너뛰기




Volumn 11, Issue 3, 2012, Pages 360-365

Expressing hNF-L E397K results in abnormal gaiting in a transgenic model of CMT2E

Author keywords

Catwalk; CMT; CMT2E; Gait; Neurofilament; NF L; Peripheral neuropathy; Transgenic

Indexed keywords

NEUROFILAMENT LIGHT PROTEIN; NEUROFILAMENT PROTEIN; UNCLASSIFIED DRUG; NEUROFILAMENT PROTEIN L;

EID: 84859436231     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2012.00771.x     Document Type: Article
Times cited : (7)

References (23)
  • 1
    • 60749123443 scopus 로고    scopus 로고
    • Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
    • Abe, A., Numakura, C., Saito, K., Koide, H., Oka, N., Honma, A., Kishikawa, Y. & Hayasaka, K. (2009) Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 54, 94-97.
    • (2009) J Hum Genet , vol.54 , pp. 94-97
    • Abe, A.1    Numakura, C.2    Saito, K.3    Koide, H.4    Oka, N.5    Honma, A.6    Kishikawa, Y.7    Hayasaka, K.8
  • 3
    • 34249798456 scopus 로고    scopus 로고
    • New movements in neurofilament transport, turnover and disease.
    • Barry, D.M., Millecamps, S., Julien, J.P. & Garcia, M.L. (2007) New movements in neurofilament transport, turnover and disease. Exp Cell Res 313, 2110-2120.
    • (2007) Exp Cell Res , vol.313 , pp. 2110-2120
    • Barry, D.M.1    Millecamps, S.2    Julien, J.P.3    Garcia, M.L.4
  • 6
    • 77954162482 scopus 로고    scopus 로고
    • Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
    • Dequen, F., Filali, M., Lariviere, R.C., Perrot, R., Hisanaga, S. & Julien, J.P. (2010) Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet 19, 2616-2629.
    • (2010) Hum Mol Genet , vol.19 , pp. 2616-2629
    • Dequen, F.1    Filali, M.2    Lariviere, R.C.3    Perrot, R.4    Hisanaga, S.5    Julien, J.P.6
  • 7
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases-a world survey.
    • Emery, A.E. (1991) Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord 1, 19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 8
    • 79952702460 scopus 로고    scopus 로고
    • Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.
    • Filali, M., Dequen, F., Lalonde, R. & Julien, J.P. (2011) Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. Behav Brain Res 219, 175-180.
    • (2011) Behav Brain Res , vol.219 , pp. 175-180
    • Filali, M.1    Dequen, F.2    Lalonde, R.3    Julien, J.P.4
  • 10
    • 0035112684 scopus 로고    scopus 로고
    • Automated quantitative gait analysis during overground locomotion in the rat: its application to spinal cord contusion and transection injuries.
    • Hamers, F.P., Lankhorst, A.J., van Laar, T.J., Veldhuis, W.B. & Gispen, W.H. (2001) Automated quantitative gait analysis during overground locomotion in the rat: its application to spinal cord contusion and transection injuries. J Neurotrauma 18, 187-201.
    • (2001) J Neurotrauma , vol.18 , pp. 187-201
    • Hamers, F.P.1    Lankhorst, A.J.2    van Laar, T.J.3    Veldhuis, W.B.4    Gispen, W.H.5
  • 12
    • 11844272704 scopus 로고    scopus 로고
    • Stepwise motor and all-or-none sensory recovery is associated with nonlinear sparing after incremental spinal cord injury in rats.
    • Kloos, A.D., Fisher, L.C., Detloff, M.R., Hassenzahl, D.L. & Basso, D.M. (2005) Stepwise motor and all-or-none sensory recovery is associated with nonlinear sparing after incremental spinal cord injury in rats. Exp Neurol 191, 251-265.
    • (2005) Exp Neurol , vol.191 , pp. 251-265
    • Kloos, A.D.1    Fisher, L.C.2    Detloff, M.R.3    Hassenzahl, D.L.4    Basso, D.M.5
  • 13
    • 0027293898 scopus 로고
    • Neurofilaments are obligate heteropolymers in vivo.
    • Lee, M.K., Xu, Z., Wong, P.C. & Cleveland, D.W. (1993) Neurofilaments are obligate heteropolymers in vivo. J Cell Biol 122, 1337-1350.
    • (1993) J Cell Biol , vol.122 , pp. 1337-1350
    • Lee, M.K.1    Xu, Z.2    Wong, P.C.3    Cleveland, D.W.4
  • 14
    • 0033583561 scopus 로고    scopus 로고
    • Severe neuronal losses with age in the parietal cortex and ventrobasal thalamus of mice transgenic for the human NF-L neurofilament protein.
    • Ma, D., Descarries, L., Micheva, K.D., Lepage, Y., Julien, J.P. & Doucet, G. (1999) Severe neuronal losses with age in the parietal cortex and ventrobasal thalamus of mice transgenic for the human NF-L neurofilament protein. J Comp Neurol 406, 433-448.
    • (1999) J Comp Neurol , vol.406 , pp. 433-448
    • Ma, D.1    Descarries, L.2    Micheva, K.D.3    Lepage, Y.4    Julien, J.P.5    Doucet, G.6
  • 17
    • 79958729463 scopus 로고    scopus 로고
    • Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
    • Shen, H., Barry, D.M., Dale, J.M., Garcia, V.B., Calcutt, N.A. & Garcia, M.L. (2011) Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet 20, 2535-2548.
    • (2011) Hum Mol Genet , vol.20 , pp. 2535-2548
    • Shen, H.1    Barry, D.M.2    Dale, J.M.3    Garcia, V.B.4    Calcutt, N.A.5    Garcia, M.L.6
  • 18
    • 0016266593 scopus 로고
    • Genetic and clinical aspects of Charcot-Marie-Tooth's disease.
    • Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 6, 98-118.
    • (1974) Clin Genet , vol.6 , pp. 98-118
    • Skre, H.1
  • 19
    • 33644544788 scopus 로고    scopus 로고
    • Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease.
    • Weimer, L.H. & Podwall, D. (2006) Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease. J Neurol Sci 242, 47-54.
    • (2006) J Neurol Sci , vol.242 , pp. 47-54
    • Weimer, L.H.1    Podwall, D.2
  • 21
    • 0036900365 scopus 로고    scopus 로고
    • Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
    • Yoshihara, T., Yamamoto, M., Hattori, N., Misu, K., Mori, K., Koike, H. & Sobue, G. (2002) Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst 7, 221-224.
    • (2002) J Peripher Nerv Syst , vol.7 , pp. 221-224
    • Yoshihara, T.1    Yamamoto, M.2    Hattori, N.3    Misu, K.4    Mori, K.5    Koike, H.6    Sobue, G.7
  • 22
    • 73549086741 scopus 로고    scopus 로고
    • A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
    • Yum, S.W., Zhang, J., Mo, K., Li, J. & Scherer, S.S. (2009) A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 66, 759-770.
    • (2009) Ann Neurol , vol.66 , pp. 759-770
    • Yum, S.W.1    Zhang, J.2    Mo, K.3    Li, J.4    Scherer, S.S.5
  • 23
    • 0347090624 scopus 로고    scopus 로고
    • The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
    • Zuchner, S., Vorgerd, M., Sindern, E. & Schroder, J.M. (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 14, 147-157.
    • (2004) Neuromuscul Disord , vol.14 , pp. 147-157
    • Zuchner, S.1    Vorgerd, M.2    Sindern, E.3    Schroder, J.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.