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Items: 1 to 20 of 22

1.

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.

Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR.

Hum Mutat. 2005 Apr;25(4):372-83.

PMID:
15776429
2.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
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.

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM.

Neuromolecular Med. 2006;8(1-2):43-62. Review.

PMID:
16775366
5.

Genetic evaluation of inherited motor/sensory neuropathy.

Chance PF.

Suppl Clin Neurophysiol. 2004;57:228-42. Review.

PMID:
16106622
6.
7.

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
8.

[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].

Ye X, Jiaying Z, Boyu Y, Zhihong H, Muchen Z, Zhen Y, Mingmin G.

Yi Chuan. 2015 Jun;37(6):501-9. doi: 10.16288/j.yczz.14-412. Review. Chinese.

PMID:
26351045
9.

Mitochondrial dynamics and inherited peripheral nerve diseases.

Pareyson D, Saveri P, Sagnelli A, Piscosquito G.

Neurosci Lett. 2015 Jun 2;596:66-77. doi: 10.1016/j.neulet.2015.04.001. Epub 2015 Apr 3. Review.

PMID:
25847151
10.

Charcot-Marie-Tooth disease: an update.

Shy ME.

Curr Opin Neurol. 2004 Oct;17(5):579-85. Review.

PMID:
15367862
11.

[Charcot-Marie-Tooth disease].

Lee YC, Chang MH, Lin KP.

Acta Neurol Taiwan. 2008 Sep;17(3):203-13. Review. Chinese.

PMID:
18975529
12.
13.
14.

The shifting paradigm of Charcot-Marie-Tooth disease.

Echaniz-Laguna A.

Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):498-504. doi: 10.1016/j.neurol.2014.12.003. Epub 2015 Apr 18. Review.

PMID:
25896909
15.
16.

Charcot-Marie-Tooth disease and intracellular traffic.

Bucci C, Bakke O, Progida C.

Prog Neurobiol. 2012 Dec;99(3):191-225. doi: 10.1016/j.pneurobio.2012.03.003. Epub 2012 Mar 22. Review.

17.

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Boerkoel CF, Takashima H, Lupski JR.

Curr Neurol Neurosci Rep. 2002 Jan;2(1):70-7. Review.

PMID:
11898586
18.

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N.

Neuromolecular Med. 2006;8(1-2):87-106. Review.

PMID:
16775369
19.

Clinical implications of genetic advances in Charcot-Marie-Tooth disease.

Rossor AM, Polke JM, Houlden H, Reilly MM.

Nat Rev Neurol. 2013 Oct;9(10):562-71. doi: 10.1038/nrneurol.2013.179. Epub 2013 Sep 10. Review.

PMID:
24018473
20.

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV, Muranova LK, Sudnitsyna MV, Ryzhavskaya AS, Gusev NB.

Biochemistry (Mosc). 2015 Dec;80(13):1734-47. doi: 10.1134/S000629791513009X. Review.

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