Molecular genetics of X-linked Charcot-Marie-Tooth disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology,Molecular Medicine
Link
http://www.springerlink.com/index/pdf/10.1385/NMM:8:1-2:107
Reference120 articles.
1. Abel A., Bone L. J., Messing A., Scherer S. S., and Fischbeck K. F. (1999) Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease. J. Neuropathol. Exp. Neurol. 58, 702–710.
2. Abrams C. K., Bennett M. V. L., Verselis V. K., and Bargiello T. A. (2002) Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. Proc. Natl. Acad. Sci. USA 99, 3980–3984.
3. Abrams C. K., Oh S., Ri Y., and Bargiello T. A. (2000) Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res. Rev. 32, 1203–214.
4. Abrams C. K., Freidin M. M., Verselis V. K., Bennett M. V., and Bargiello T. A. (2001) Functional alterations in gap junction channels formed by mutant forms of connexin 32:evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. Brain Res. 900, 9–25.
5. Allan W. (1939) Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. Int. Med. 63, 1123–1131.
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