Clinical and electrophysiological aspects of 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:8:1-2:3
Reference140 articles.
1. Ad hoc Working Group of the Peripheral Nervous System Study Group (Crespi V., Fabrizi G. M., Mandich P., Pareyson D., Salvi F., Santoro L., Schenone A., and Taroni F.). (1999) Guidelines for the diagnosis of Charcot-Marie-Tooth disease and related neuropathies. Ital. J. Neurol. Sci. 20, 207–216.
2. Andersson P. B., Yuen E., Parko K., and So Y. T. (2000) Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 54, 40–44.
3. Antonellis A., Ellsworth R. E., Sambuughin N., et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293–1299.
4. Auer-Grumbach M., Strasser-Fuchs S., Robl T., Windpassinger C., and Wagner K. (2003) Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61, 1435–1437.
5. Auer-Grumbach M, Schlotter-Weigel B., Lochmuller H., et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann. Neurol. 57, 415–424.
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