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Items: 1 to 20 of 107

1.

Charcot-Marie-Tooth disease.

Szigeti K, Lupski JR.

Eur J Hum Genet. 2009 Jun;17(6):703-10. doi: 10.1038/ejhg.2009.31. Epub 2009 Mar 11.

2.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

3.

The various Charcot-Marie-Tooth diseases.

Vallat JM, Mathis S, Funalot B.

Curr Opin Neurol. 2013 Oct;26(5):473-80. doi: 10.1097/WCO.0b013e328364c04b. Review.

PMID:
23945280
4.

Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.

Street VA, Meekins G, Lipe HP, Seltzer WK, Carter GT, Kraft GH, Bird TD.

Neuromuscul Disord. 2002 Oct;12(7-8):643-50.

PMID:
12207932
5.

Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.

Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.

Arch Neurol. 2005 Aug;62(8):1201-7.

PMID:
16087758
6.
7.

Pediatric Charcot-Marie-Tooth disease.

Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G.

Pediatr Clin North Am. 2015 Jun;62(3):767-86. doi: 10.1016/j.pcl.2015.03.012. Epub 2015 Apr 15. Review.

PMID:
26022174
8.

[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].

Auer-Grumbach M, Wagner K, Fazekas F, Löscher WN, Strasser-Fuchs S, Hartung HP.

Nervenarzt. 1999 Dec;70(12):1052-61. Review. German.

PMID:
10637810
9.

The causes of Charcot-Marie-Tooth disease.

Young P, Suter U.

Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review.

PMID:
14685682
10.

[Charcot-Marie-Tooth (CMT) disease: an update].

Vallat JM, Funalot B.

Med Sci (Paris). 2010 Oct;26(10):842-7. doi: 10.1051/medsci/20102610842. Review. French.

11.

Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.

Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ.

Ann N Y Acad Sci. 1999 Sep 14;883:366-82.

PMID:
10586261
12.

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.

Neurology. 2003 Nov 25;61(10):1435-7.

PMID:
14638973
13.

Diagnosis of Charcot-Marie-Tooth disease.

Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V.

J Biomed Biotechnol. 2009;2009:985415. doi: 10.1155/2009/985415. Epub 2009 Oct 8. Review.

14.

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.

Solla P, Vannelli A, Bolino A, Marrosu G, Coviello S, Murru MR, Tranquilli S, Corongiu D, Benedetti S, Marrosu MG.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):958-62. doi: 10.1136/jnnp.2009.181636. Epub 2010 Jul 26.

PMID:
20660910
15.

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

Choi BO, Koo SK, Park MH, Rhee H, Yang SJ, Choi KG, Jung SC, Kim HS, Hyun YS, Nakhro K, Lee HJ, Woo HM, Chung KW.

Hum Mutat. 2012 Nov;33(11):1610-5. doi: 10.1002/humu.22143. Epub 2012 Jul 5.

PMID:
22730194
16.

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
17.

[Molecular diagnosis of hereditary neuropathies such as Charcot-Marie-Tooth disease].

Pouget J.

Rev Neurol (Paris). 2004 Feb;160(2):181-7. Review. French.

PMID:
15034475
19.

Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.

Ann Neurol. 2002 Feb;51(2):190-201.

PMID:
11835375
20.

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT, Meins M.

BMC Med Genet. 2006 Jun 8;7:53.

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