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Items: 1 to 20 of 132

1.

The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults.

Al-Mateen M, Craig AK, Chance PF.

J Child Neurol. 2014 Mar;29(3):342-8. doi: 10.1177/0883073812474343. Epub 2013 Feb 11. Review.

PMID:
23400245
2.

[Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review].

Zhang HH, Gao LG, Wang JM, Gao ZJ, Jiang YW, Wang S, Xiong H, Chang XZ, Wu Y.

Zhonghua Er Ke Za Zhi. 2013 Nov;51(11):813-8. Review. Chinese.

PMID:
24484554
3.

X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.

Sagnelli A, Piscosquito G, Chiapparini L, Ciano C, Salsano E, Saveri P, Milani M, Taroni F, Pareyson D.

J Peripher Nerv Syst. 2014 Jun;19(2):183-6. doi: 10.1111/jns5.12070.

PMID:
24863494
4.

Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness.

Kim GH, Kim KM, Suh SI, Ki CS, Eun BL.

Pediatrics. 2014 Jul;134(1):e270-3. doi: 10.1542/peds.2012-3243.

5.

Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.

McKinney JL, De Los Reyes EC, Lo WD, Flanigan KM.

Muscle Nerve. 2014 Mar;49(3):451-4. doi: 10.1002/mus.24108. Epub 2014 Jan 27.

PMID:
24170412
6.

Central nervous system signs in X-linked Charcot-Marie-Tooth disease after hyperventilation.

Srinivasan J, Leventer RJ, Kornberg AJ, Dahl HH, Ryan MM.

Pediatr Neurol. 2008 Apr;38(4):293-5. doi: 10.1016/j.pediatrneurol.2007.12.003.

PMID:
18358413
7.

Transient leukoencephalopathy associated with X-linked Charcot-Marie-Tooth disease.

Rosser T, Muir J, Panigrahy A, Baldwin EE, Boles RG.

J Child Neurol. 2010 Aug;25(8):1013-6. doi: 10.1177/0883073809352378. Epub 2010 May 14.

PMID:
20472869
8.

Diffusion tensor imaging and magnetic resonance spectroscopy of transient cerebral white matter lesions in X-linked Charcot-Marie-Tooth disease.

Sato K, Kubo S, Fujii H, Okamoto M, Takahashi K, Takamatsu K, Tanaka A, Kuriyama M.

J Neurol Sci. 2012 May 15;316(1-2):178-80. doi: 10.1016/j.jns.2012.01.017. Epub 2012 Feb 16.

PMID:
22341131
9.

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH, Grossman RI, Lenkinski R, Kamholz JA, Shy ME.

Ann Neurol. 2002 Oct;52(4):429-34.

PMID:
12325071
10.

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.

Karadima G, Koutsis G, Raftopoulou M, Floroskufi P, Karletidi KM, Panas M.

J Neurol Sci. 2014 Jun 15;341(1-2):158-61. doi: 10.1016/j.jns.2014.04.007. Epub 2014 Apr 13.

PMID:
24768312
12.

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.

Echaniz-Laguna A, Degos B, Bonnet C, Latour P, Hamadouche T, Lévy N, Leheup B.

Neuromuscul Disord. 2007 Feb;17(2):163-8. Epub 2006 Dec 4.

PMID:
17142040
13.

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.

Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD.

Arch Neurol. 2003 Apr;60(4):605-9.

PMID:
12707076
14.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM.

J Neurol Neurosurg Psychiatry. 2002 Sep;73(3):304-6.

15.

A Review of X-linked Charcot-Marie-Tooth Disease.

Wang Y, Yin F.

J Child Neurol. 2015 Sep 18. pii: 0883073815604227. [Epub ahead of print]

PMID:
26385972
16.

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA, Simon EM, Marks HG, Scherer SS.

Neurology. 2003 Dec 9;61(11):1475-8. No abstract available.

PMID:
14663027
17.

Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.

Fusco C, Frattini D, Pisani F, Spaggiari F, Ferlini A, Della Giustina E.

J Child Neurol. 2010 Jun;25(6):759-63. doi: 10.1177/0883073809344119. Epub 2010 Apr 9.

PMID:
20382840
18.

Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.

Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M.

Acta Neurol Scand. 2003 Jan;107(1):31-7.

PMID:
12542510
19.

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

20.

Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.

Martikainen MH, Majamaa K.

Neuromuscul Disord. 2013 Nov;23(11):899-901. doi: 10.1016/j.nmd.2013.06.004. Epub 2013 Jul 6.

PMID:
23838279
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