The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations-Reference-Cited by-同舟云学术

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations

Published:2016-06-02 Issue:10 Volume:61 Page:899-902
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Hamatani Mio,Jingami Naoto,Tsurusaki Yoshinori,Shimada Shino,Shimojima Keiko,Asada-Utsugi Megumi,Yoshinaga Kenji,Uemura Norihito,Yamashita Hirofumi,Uemura Kengo,Takahashi Ryosuke,Matsumoto Naomichi,Yamamoto Toshiyuki

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201664.pdf

Reference16 articles.

1. Kaye, E. M. & Moser, H. Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathies. Neurology 62, 1464–1465 (2004).

2. Renaud, D. L. Inherited leukoencephalopathies. Semin. Neurol. 32, 3–8 (2012).

3. Schiffmann, R. & van der Knaap, M. S. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72, 750–759 (2009).

4. Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S., Kou, I., Shiina, M. et al. De novo SOX11 mutations cause Coffin-Siris syndrome. Nat. Commun. 5, 4011 (2014).

5. Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A. et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat. Genet. 44, 200–205 (2012).

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