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Items: 11

1.

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.

Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.

Arch Neurol. 2008 Jan;65(1):133-6. doi: 10.1001/archneurol.2007.4.

PMID:
18195151
2.

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G; Study Group for Hereditary Neuropathy in Japan..

Brain. 2003 Jan;126(Pt 1):134-51. Review.

PMID:
12477701
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.

Dominantly inherited peripheral neuropathies.

Vallat JM.

J Neuropathol Exp Neurol. 2003 Jul;62(7):699-714. Review.

PMID:
12901697
5.

[Molecular genetics of inherited neuropathies].

Takashima H.

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

PMID:
16541790
6.

Axonal Charcot-Marie-Tooth disease.

Shy ME, Patzkó A.

Curr Opin Neurol. 2011 Oct;24(5):475-83. doi: 10.1097/WCO.0b013e32834aa331. Review.

PMID:
21892080
7.

Charcot-Marie-Tooth disease: a clinico-genetic confrontation.

Barisic N, Claeys KG, Sirotković-Skerlev M, Löfgren A, Nelis E, De Jonghe P, Timmerman V.

Ann Hum Genet. 2008 May;72(Pt 3):416-41. doi: 10.1111/j.1469-1809.2007.00412.x. Review.

8.

Charcot-Marie-Tooth disease: emerging mechanisms and therapies.

d'Ydewalle C, Benoy V, Van Den Bosch L.

Int J Biochem Cell Biol. 2012 Aug;44(8):1299-304. doi: 10.1016/j.biocel.2012.04.020. Review.

PMID:
22575637
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. Review.

PMID:
25847151
10.

Therapeutic options in Charcot-Marie-Tooth diseases.

Mathis S, Magy L, Vallat JM.

Expert Rev Neurother. 2015 Apr;15(4):355-66. doi: 10.1586/14737175.2015.1017471. Review.

PMID:
25703094
11.

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

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