A Novel Mutation inELOVL4Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia-Reference-Cited by-同舟云学术

A Novel Mutation inELOVL4Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia

Published:2015-07-01 Issue:7 Volume:72 Page:797
ISSN:2168-6149
Container-title:JAMA Neurology
language:en
Short-container-title:JAMA Neurol

Author:

Ozaki Kokoro¹,Doi Hiroshi²,Mitsui Jun³,Sato Nozomu¹,Iikuni Yoichiro⁴,Majima Takamasa⁵,Yamane Kiyomi⁴,Irioka Takashi⁵,Ishiura Hiroyuki³,Doi Koichiro⁶,Morishita Shinichi⁶,Higashi Miwa¹,Sekiguchi Teruhiko⁷,Koyama Kazuo⁸,Ueda Naohisa²,Miura Yoshiharu⁹,Miyatake Satoko¹⁰,Matsumoto Naomichi¹⁰,Yokota Takanori¹,Tanaka Fumiaki²,Tsuji Shoji³,Mizusawa Hidehiro¹¹,Ishikawa Kinya¹

Affiliation:

1. Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan

2. Department of Neurology and Stroke Medicine, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan

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

4. Department of Neurology, Neurological Institute, Ohta-Atami Hospital, Koriyama, Fukushima, Japan

5. Department of Neurology, Yokosuka Kyosai Hospital, Yokosuka, Kanagawa, Japan

6. Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba, Japan

7. Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan

8. Department of Neurology, Fujisawa City Hospital, Fujisawa, Kanagawa, Japan

9. Department of Neurology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, Bunkyo, Tokyo, Japan

10. Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Kanagawa, Japan

11. Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan11The National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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