De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

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Published in Nat Genet on February 24, 2013

Authors

Hirotomo Saitsu1, Taki Nishimura, Kazuhiro Muramatsu, Hirofumi Kodera, Satoko Kumada, Kenji Sugai, Emi Kasai-Yoshida, Noriko Sawaura, Hiroya Nishida, Ai Hoshino, Fukiko Ryujin, Seiichiro Yoshioka, Kiyomi Nishiyama, Yukiko Kondo, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirokazu Arakawa, Mitsuhiro Kato, Noboru Mizushima, Naomichi Matsumoto

Author Affiliations

1: Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. hsaitsu@yokohama-cu.ac.jp

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