| 1 | CMT2E, NEFL
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| Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
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| Shen H, Barry DM, Dale JM, Garcia VB, Calcutt NA, Garcia ML.
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| Hum Mol Genet 20(13):2535-48. Epub 2011 Apr 14.
2011
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| 2 | CMT2E, NEFL
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| Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.
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| Filali M, Dequen F, Lalonde R, Julien JP.
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| Behav Brain Res 219(2):175-80. Epub 2010 Dec 17.
2011
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| 3 | CMT2E, NEFL
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| Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
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| Dequen F, Filali M, Larivičre RC, Perrot R, Hisanaga S, Julien JP.
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| Hum Mol Genet 19(13):2616-29. Epub 2010 Apr 26.PMID: 20421365 2010
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| 4 | NEFH, NEFL, NEFM
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| How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.
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| Leermakers FA, Zhulina EB.
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| Eur Biophys J 39(9):1323-34. doi: 10.1007/s00249-010-0585-z. Epub 2010 Mar 7. Erratum in: Eur Biophys J. 2010 Aug;39(9):1373.
2010
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| 5 | ANP32A, ANP32P, NEFL
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| Neuronal differentiation is regulated by leucine-rich acidic nuclear protein (LANP), a member of the inhibitor of histone acetyltransferase complex.
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| Kular RK, Cvetanovic M, Siferd S, Kini AR, Opal P.
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| J Biol Chem 284(12):7783-92. Epub 2009 Jan 9. 2009
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| 6 | CMT2E, NEFL
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| A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
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| Yum SW, Zhang J, Mo K, Li J, Scherer SS.
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| Ann Neurol 66(6):759-70.
2009
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| 7 | CMT2E, NEFL
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| Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
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| Butinar D, Starr A, Zidar J, Koutsou P, Christodoulou K.
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| Clin Neurophysiol 119(2):367-75. Epub 2007 Nov 26. 2008
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| 8 | CMT1F, NEFL
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| NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
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| Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO.
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| J Hum Genet 53(10):936-40. Epub 2008 Aug 29.
2008
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| 9 | CMT2E, NEFL
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| Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
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| Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
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| Arch Neurol 64(7):966-70. 2007
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| 10 | CMT1F, CMT2E, NEFL
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| Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
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| Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N.
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| Brain 130(Pt 2):394-403. Epub 2006 Oct 18.
2007
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| 11 | NEFL, TARDBP
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| TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein.
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| Strong MJ, Volkening K, Hammond R, Yang W, Strong W, Leystra-Lantz C, Shoesmith C.
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| Mol Cell Neurosci 35(2):320-7. Epub 2007 Mar 20.
2007
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| 12 | CMT2E, NEFL
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| Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.
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| Sasaki T, Gotow T, Shiozaki M, Sakaue F, Saito T, Julien JP, Uchiyama Y, Hisanaga S.
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| Hum Mol Genet 15(6):943-52. Epub 2006 Feb 1. 2006
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| 13 | NEFL, CMT2E
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| A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
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| Leung CL, Nagan N, Graham TH, Liem RK.
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| Am J Med Genet A 140(9):1021-5. No abstract available. 2006
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| 14 | CMT2E, NEFL
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| Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.
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| Perez-Olle R, Lopez-Toledano MA, Goryunov D, Cabrera-Poch N, Stefanis L, Brown K, Liem RK.
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| J Neurochem 93(4):861-74. 2005
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| 15 | CMT4B1, MTMR2, NEFL
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| Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
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| Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.
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| Hum Mol Genet 12(14):1713-23. 2003
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| 16 | CMT1F, NEFL
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| Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
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| Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V.
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| Brain 126(Pt 3):590-7.
2003
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| 17 | NEFL, TSC1, TSC2
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| The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton.
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| Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V.
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| J Biol Chem 277(46):44180-6. Epub 2002 Sep 10. 2002
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| 18 | CMT2A2,CMT2B2,CMT2D,CMT2E,NEFL
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| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
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| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.
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| Am J Hum Genet 67(1):37-46. 2000
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| 19 | GTF2E2, NRG1, NEFL, FGFR1, POLB, PPP2CB, WRN
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| Integrated map of the chromosome 8p12-p21 region, a region involved in human cancers and Werner syndrome.
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| Imbert A, et al.
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| Genomics 32 : 29-38. 1996
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| 20 | NEFL
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| An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.
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| Rogaev E, et al.
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| Hum Mol Genet 1 : 781. 1992
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| 21 | NEFL, NEFLL1, NEFLL2
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| Localization of the 68 000-DA human neurofilament gene (NF68) using a murine cDNA probe.
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| Somerville MJ, et al.
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| Genome 30 : 499-500. 1988
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| 22 | NEFL
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| Human TaqI RFLP recognised by neurofilamant gene probes.
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| Bech-Hansen NT, et al.
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| Nucleic Acids Res 16 : 4183. 1988
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| 23 | NEFL
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| RFLP for TaqI at the human neurofilament (NF-L) gene locus.
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| Lacoste-Royal G, et al.
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| Nucleic Acids Res 16 : 4184. 1988
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| 24 | NEFL
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| The human neurofilament gene (NEFL) is located on the short arm of chromosome 8.
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| Hurst J, et al.
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| Cytogenet Cell Genet 45 : 30-32. 1987
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