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Items: 1 to 20 of 90

1.

Considerable post-partum worsening in a patient with CMT2E.

Gentile L, Taioli F, Fabrizi GM, Russo M, Stancanelli C, Mazzeo A.

Neurol Sci. 2013 Oct;34(10):1813-4. doi: 10.1007/s10072-013-1296-x. Epub 2013 Feb 15. No abstract available.

PMID:
23412702
2.

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
3.

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
4.

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

Shin JS, Chung KW, Cho SY, Yun J, Hwang SJ, Kang SH, Cho EM, Kim SM, Choi BO.

J Hum Genet. 2008;53(10):936-40. doi: 10.1007/s10038-008-0333-8. Epub 2008 Aug 29.

PMID:
18758688
5.

NEFL-related Charcot-Marie-tooth disease: an unraveling story.

Reilly MM.

Ann Neurol. 2009 Dec;66(6):714-6. doi: 10.1002/ana.21848. No abstract available.

PMID:
20033987
6.

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.

7.

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K.

Neurogenetics. 2002 Oct;4(2):93-6.

PMID:
12481988
8.

Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)

Lupski JR.

Am J Hum Genet. 2000 Jul;67(1):8-10. Epub 2000 Jun 7. No abstract available.

9.

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.

Andrigo C, Boito C, Prandini P, Mostacciuolo ML, Siciliano G, Angelini C, Pegoraro E.

Neurogenetics. 2005 Feb;6(1):49-50. Epub 2005 Jan 15. No abstract available.

PMID:
15654615
10.

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. 2011 Jul 1;20(13):2535-48. doi: 10.1093/hmg/ddr152. Epub 2011 Apr 14.

11.

Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.

Yamamoto M, Yoshihara T, Hattori N, Sobue G.

Neurogenetics. 2004 Feb;5(1):75-7. Epub 2003 Oct 29. No abstract available.

PMID:
14586770
12.

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.

13.
15.

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. 2006 May 1;140(9):1021-5. No abstract available.

PMID:
16619203
16.

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.

17.

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.

J Peripher Nerv Syst. 2002 Dec;7(4):221-4. Erratum in: J Peripher Nerv Syst. 2003 Jun;8(2):134.

PMID:
12477167
18.

[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].

Luo W, Tang B, Zhao G, Li Q, Xiao J, Yang Q, Xia J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):169-70. Chinese.

PMID:
12673592
19.

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. 2007 Jul;64(7):966-70.

PMID:
17620486
20.
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