| 1 | CMT2E, NEFL
|
| Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
|
| Shen H, Barry DM, Dale JM, Garcia VB, Calcutt NA, Garcia ML.
|
| Hum Mol Genet 20(13):2535-48. Epub 2011 Apr 14.
2011
|
| 2 | CMT2E, NEFL
|
| Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.
|
| Filali M, Dequen F, Lalonde R, Julien JP.
|
| Behav Brain Res 219(2):175-80. Epub 2010 Dec 17.
2011
|
| 3 | CMT2E, NEFL
|
| Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.
|
| Dequen F, Filali M, Larivičre RC, Perrot R, Hisanaga S, Julien JP.
|
| Hum Mol Genet 19(13):2616-29. Epub 2010 Apr 26.PMID: 20421365 2010
|
| 4 | CMT2E, NEFL
|
| A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
|
| Yum SW, Zhang J, Mo K, Li J, Scherer SS.
|
| Ann Neurol 66(6):759-70.
2009
|
| 5 | CMT2E, NEFL
|
| Auditory nerve is affected in one of two different point mutations of the neurofilament light gene.
|
| Butinar D, Starr A, Zidar J, Koutsou P, Christodoulou K.
|
| Clin Neurophysiol 119(2):367-75. Epub 2007 Nov 26. 2008
|
| 6 | CMT2E, NEFL
|
| Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
|
| Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
|
| Arch Neurol 64(7):966-70. 2007
|
| 7 | CMT1F, CMT2E, NEFL
|
| Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
| Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N.
|
| Brain 130(Pt 2):394-403. Epub 2006 Oct 18.
2007
|
| 8 | CMT2E, NEFL
|
| Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.
|
| Sasaki T, Gotow T, Shiozaki M, Sakaue F, Saito T, Julien JP, Uchiyama Y, Hisanaga S.
|
| Hum Mol Genet 15(6):943-52. Epub 2006 Feb 1. 2006
|
| 9 | NEFL, CMT2E
|
| A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease.
|
| Leung CL, Nagan N, Graham TH, Liem RK.
|
| Am J Med Genet A 140(9):1021-5. No abstract available. 2006
|
| 10 | CMT2E, NEFL
|
| Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.
|
| Perez-Olle R, Lopez-Toledano MA, Goryunov D, Cabrera-Poch N, Stefanis L, Brown K, Liem RK.
|
| J Neurochem 93(4):861-74. 2005
|
| 11 | CMT2E
|
| Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.
|
| Perez-Olle R, Jones ST, Liem RK.
|
| Hum Mol Genet 13(19):2207-20. Epub 2004 Jul 28. 2004
|
| 12 | CMT2E
|
| Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.
|
| Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N.
|
| Neurology 62(8):1429-31. 2004
|
| 13 | CMT2A2,CMT2B2,CMT2D,CMT2E,NEFL
|
| A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
|
| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV.
|
| Am J Hum Genet 67(1):37-46. 2000
|