Literature DB >> 23390121

First video report of static encephalopathy of childhood with neurodegeneration in adulthood.

Emi Kasai-Yoshida, Satoko Kumada, Akira Yagishita, Konomi Shimoda, Ikuko Sato-Shirai, Yasuo Hachiya, Eiji Kurihara.   

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Year:  2013        PMID： 23390121     DOI： 10.1002/mds.25158

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  6 in total

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

Authors:  Hirotomo Saitsu; 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
Journal:  Nat Genet       Date:  2013-02-24       Impact factor: 38.330

2.  Stereotypic Hand Movements in β-Propeller Protein-Associated Neurodegeneration: First Video Report.

Authors:  Shumpei Uchino; Hirotomo Saitsu; Satoko Kumada; Yasuhiro Nakata; Naomichi Matsumoto
Journal:  Mov Disord Clin Pract       Date:  2015-03-30

3.  WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.

Authors:  Huida Wan; Qi Wang; Xiuting Chen; Qiufang Zeng; Yanjiao Shao; Houqin Fang; Xun Liao; Hu-Song Li; Ming-Gang Liu; Tian-Le Xu; Miaomiao Diao; Dali Li; Bo Meng; Bin Tang; Zhuohua Zhang; Lujian Liao
Journal:  Autophagy       Date:  2019-06-23       Impact factor: 16.016

4.  Phenotypic and Imaging Spectrum Associated With WDR45.

Authors:  Laura A Adang; Amy Pizzino; Alka Malhotra; Holly Dubbs; Catherine Williams; Omar Sherbini; Anna-Kaisa Anttonen; Gaetan Lesca; Tarja Linnankivi; Chloé Laurencin; Matthieu Milh; Charles Perrine; Christian P Schaaf; Anne-Lise Poulat; Dorothee Ville; Tanner Hagelstrom; Denise L Perry; Ryan J Taft; Amy Goldstein; Arastoo Vossough; Ingo Helbig; Adeline Vanderver
Journal:  Pediatr Neurol       Date:  2020-03-11       Impact factor: 3.372

5.  A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Authors:  Tadashi Ozawa; Reiji Koide; Yasuhiro Nakata; Hirotomo Saitsu; Naomichi Matsumoto; Kazushi Takahashi; Imaharu Nakano; Satoshi Orimo
Journal:  Am J Med Genet A       Date:  2014-07-10       Impact factor: 2.802

Review 6.  The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.

Authors:  Eleanna Kara; John Hardy; Henry Houlden
Journal:  Curr Opin Neurol       Date:  2013-08       Impact factor: 5.710
  6 in total

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