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Items: 1 to 20 of 355

1.
3.

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease.

Gentil BJ, Minotti S, Beange M, Baloh RH, Julien JP, Durham HD.

FASEB J. 2012 Mar;26(3):1194-203. doi: 10.1096/fj.11-196345. Epub 2011 Dec 12.

4.

Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.

Gentil BJ, Mushynski WE, Durham HD.

Int J Biochem Cell Biol. 2013 Jul;45(7):1499-508. doi: 10.1016/j.biocel.2013.04.009. Epub 2013 Apr 22.

PMID:
23618875
5.

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.

Nat Genet. 2004 Jun;36(6):602-6. Epub 2004 May 2.

PMID:
15122254
6.

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

Brownlees J, Ackerley S, Grierson AJ, Jacobsen NJ, Shea K, Anderton BH, Leigh PN, Shaw CE, Miller CC.

Hum Mol Genet. 2002 Nov 1;11(23):2837-44.

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Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.

Pérez-Ollé R, López-Toledano MA, Goryunov D, Cabrera-Poch N, Stefanis L, Brown K, Liem RK.

J Neurochem. 2005 May;93(4):861-74.

9.

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Niemann A, Berger P, Suter U.

Neuromolecular Med. 2006;8(1-2):217-42. Review.

PMID:
16775378
10.

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. 2004 Oct 1;13(19):2207-20. Epub 2004 Jul 28.

11.

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

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.

Brain. 2003 Mar;126(Pt 3):590-7.

12.

[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].

Zhang RX, Tang BS, Zi XH, Xia K, Pan Q, Zhang FF, Li SJ, Zhao GH, Guo K.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Dec;23(6):601-4. Chinese.

PMID:
17160934
13.

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.

Adebola AA, Di Castri T, He CZ, Salvatierra LA, Zhao J, Brown K, Lin CS, Worman HJ, Liem RK.

Hum Mol Genet. 2015 Apr 15;24(8):2163-74. doi: 10.1093/hmg/ddu736. Epub 2014 Dec 30.

14.

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

Saporta MA, Dang V, Volfson D, Zou B, Xie XS, Adebola A, Liem RK, Shy M, Dimos JT.

Exp Neurol. 2015 Jan;263:190-9. doi: 10.1016/j.expneurol.2014.10.005. Epub 2014 Oct 30.

15.

Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.

Kabzińska D, Perez-Olle R, Goryunov D, Drac H, Ryniewicz B, Hausmanowa-Petrusewicz I, Kochański A, Liem RK.

J Peripher Nerv Syst. 2006 Sep;11(3):225-31.

PMID:
16930284
16.

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V.

Ann Neurol. 2001 Feb;49(2):245-9.

PMID:
11220745
17.

Neurofilament subunit NF-H modulates axonal diameter by selectively slowing neurofilament transport.

Marszalek JR, Williamson TL, Lee MK, Xu Z, Hoffman PN, Becher MW, Crawford TO, Cleveland DW.

J Cell Biol. 1996 Nov;135(3):711-24.

19.

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

Cartoni R, Arnaud E, Médard JJ, Poirot O, Courvoisier DS, Chrast R, Martinou JC.

Brain. 2010 May;133(Pt 5):1460-9. doi: 10.1093/brain/awq082.

20.

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. 2004 Apr 27;62(8):1429-31.

PMID:
15111691
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