Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan-Reference-Cited by-同舟云学术

Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan

Published:2013-03-07 Issue:5 Volume:58 Page:273-278
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hayashi Makiko,Abe Akiko,Murakami Tatsufumi,Yamao Satoshi,Arai Hidee,Hattori Hideji,Iai Mizue,Watanabe Kyoko,Oka Nobuyuki,Chida Keiji,Kishikawa Yumiko,Hayasaka Kiyoshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201315.pdf

Reference45 articles.

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2. Pareyson, D. & Marchesi, C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 8, 654–667 (2009).

3. Saporta, A. S., Sottile, S. L., Miller, L. J., Feely, S. M., Siskind, C. E. & Shy, M. E. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann. Neurol. 69, 22–33 (2011).

4. Abe, A., Numakura, C., Kijima, K., Hayashi, M., Hashimoto, T. & Hayasaka, K. Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan. J. Hum. Genet. 56, 364–368 (2011).

5. Abe, A., Numakura, C., Saito, K., Koide, H., Oka, N., Honma, A. et al. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J. Hum. Genet. 54, 94–97 (2009).

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