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Items: 1 to 20 of 114

1.

A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.

Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG.

Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8.

2.

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S.

Am J Hum Genet. 2012 Dec 7;91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8.

3.

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.

4.

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ, Lin JP, Boyadjiev S, Campbell K, Mazzeo L, Herman K, Rimer LA, Frank W, Llewellyn B, Jabs EW, Gelber D, Kimonis VE.

Am J Hum Genet. 1999 Jun;64(6):1580-93.

5.

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. 2000 Jul;67(1):37-46. Epub 2000 Jun 7.

6.

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC.

PLoS One. 2011;6(12):e29393. doi: 10.1371/journal.pone.0029393. Epub 2011 Dec 19. Erratum in: PLoS One. 2012;7(1). doi:10.1371/annotation/237439db-35ae-4884-9ee7-2ae19872a581. Antonellis, Antony [corrected to Antonellis, Anthony].

7.

A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease.

Wang YW, Han WT, Jiang M, Lu CX, Li XF, Zhang X, Li JX.

Genet Mol Res. 2012 May 18;11(2):1454-9. doi: 10.4238/2012.May.18.5.

8.

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM.

Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc.

9.

MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis.

Choi BO, Kim SB, Kanwal S, Hyun YS, Park SW, Koo H, Yoo JH, Hyun JW, Park KD, Choi KG, Chung KW.

Int J Mol Med. 2011 Sep;28(3):389-96. doi: 10.3892/ijmm.2011.678. Epub 2011 Apr 18.

PMID:
21503568
10.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

11.

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.

BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121.

12.

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

Cho HJ, Sung DH, Kim BJ, Ki CS.

Clin Genet. 2007 Mar;71(3):267-72.

PMID:
17309650
13.

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
14.

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.

Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.

Clin Genet. 2008 Sep;74(3):274-8. doi: 10.1111/j.1399-0004.2008.01018.x. Epub 2008 May 19.

PMID:
18492089
15.

[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].

Liu XM, Tang BS, Zhao GH, Xia K, Zhang FF, Pan Q, Cai F, Hu ZM, Zhang C, Chen B, Shen L, Zhang RX, Jiang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct;22(5):510-3. Chinese.

PMID:
16215937
16.

[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].

Zhang RX, Fu M, Zi XH, Li XB, Zhang FF, Xia K, Pan Q, Hu ZM, Tang BS.

Zhonghua Yi Xue Za Zhi. 2009 Dec 22;89(47):3324-7. Chinese.

PMID:
20193559
17.

A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.

Tsai PC, Huang YH, Guo YC, Wu HT, Lin KP, Tsai YS, Liao YC, Liu YT, Liu TT, Kao LS, Yet SF, Fann MJ, Soong BW, Lee YC.

Neurology. 2014 Sep 2;83(10):903-12. doi: 10.1212/WNL.0000000000000758. Epub 2014 Aug 6.

PMID:
25098539
18.

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
19.

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S.

Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.

20.

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.

Lin P, Mao F, Liu Q, Yang W, Shao C, Yan C, Gong Y.

Muscle Nerve. 2010 Dec;42(6):922-6. doi: 10.1002/mus.21790.

PMID:
21104867
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