Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy

Author:

Higuchi Yujiro1,Okunushi Ryuta2,Hara Taichi34,Hashiguchi Akihiro1,Yuan Junhui1,Yoshimura Akiko1,Murayama Kei5,Ohtake Akira67,Ando Masahiro1,Hiramatsu Yu1,Ishihara Satoshi18,Tanabe Hajime1,Okamoto Yuji1,Matsuura Eiji1,Ueda Takehiro9,Toda Tatsushi910,Yamashita Sumimasa11,Yamada Kenichiro12,Koide Takashi13,Yaguchi Hiroaki14,Mitsui Jun10,Ishiura Hiroyuki10,Yoshimura Jun15,Doi Koichiro15,Morishita Shinichi15,Sato Ken4,Nakagawa Masanori16,Yamaguchi Masamitsu2,Tsuji Shoji10,Takashima Hiroshi1

Affiliation:

1. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan

2. Department of Applied Biology and The Center for Advanced Insect Research, Kyoto Institute of Technology, Japan

3. Laboratory of Cellular Regulation, Faculty of Human Sciences, Waseda University, Mikajima, Tokorozawa, Saitama 359-1192, Japan

4. Laboratory of Molecular Traffic, Institute for Molecular and Cellular Regulation, Gunma University, Gunma, Japan

5. Department of Metabolism, Chiba Children’s Hospital, Chiba, Japan

6. Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama, Japan

7. Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan

8. Department of Cardiovascular medicine, Nephrology and Neurology, Graduate School of Medicine, University of the Ryukyus, Okinawa, Japan

9. Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan

10. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

11. Department of Neurology, Kanagawa Children’s Medical Center, Japan

12. Department of Pediatrics, Hiratsuka City Hospital, Hiratsuka City, Kanagawa, Japan

13. Department of Neurology, Hiratsuka City Hospital, Hiratsuka City, Kanagawa, Japan

14. Department of Neurology, Brain Center, Sapporo City General Hospital, Sapporo, Hokkaido, Japan

15. Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba, Japan

16. Director of North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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