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Items: 6

1.

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation.

Sowden JE, Logigian EL, Malik K, Herrmann DN.

J Neurol Neurosurg Psychiatry. 2005 Mar;76(3):442-4.

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.

Phenotypic clustering in MPZ mutations.

Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.

Brain. 2004 Feb;127(Pt 2):371-84. Epub 2004 Jan 7. Review.

PMID:
14711881
5.

Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Kovach MJ, Campbell KC, Herman K, Waggoner B, Gelber D, Hughes LF, Kimonis VE.

Am J Med Genet. 2002 Apr 1;108(4):295-303. Review.

PMID:
11920834
6.

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

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