Literature DB >> 25595316

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.

Kazumasa Saigoh1, Jun Mitsui2, Makito Hirano3, Mitsuaki Shioyama3, Makoto Samukawa3, Yaeko Ichikawa2, Jun Goto2, Shoji Tsuji2, Susumu Kusunoki4.   

Abstract

Entities:  

Keywords:  Head tremor; Hot cross bun (HCB) sign; Multiple system atrophy, Prodynorphin (PDYN); Parkinsonism; Spinocerebellar ataxia 23

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Year:  2015        PMID： 25595316     DOI： 10.1016/j.parkreldis.2014.12.028

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  4 in total

1.  Opioid precursor protein isoform is targeted to the cell nuclei in the human brain.

Authors:  Olga Kononenko; Igor Bazov; Hiroyuki Watanabe; Ganna Gerashchenko; Oleg Dyachok; Dineke S Verbeek; Kanar Alkass; Henrik Druid; Malin Andersson; Jan Mulder; Åsa Fex Svenningsen; Grazyna Rajkowska; Craig A Stockmeier; Oleg Krishtal; Tatiana Yakovleva; Georgy Bakalkin
Journal:  Biochim Biophys Acta Gen Subj       Date:  2016-11-10       Impact factor: 3.770

2.  Intrafamilial phenotypic variation in spinocerebellar ataxia type 23.

Authors:  Shunichi Satoh; Yasufumi Kondo; Shinji Ohara; Tomomi Yamaguchi; Katsuya Nakamura; Kunihiro Yoshida
Journal:  Cerebellum Ataxias       Date:  2020-06-23

Review 3.  A case of a novel CACNA1G mutation from a Chinese family with SCA42: A case report and literature review.

Authors:  Xinyuan Li; Chunkui Zhou; Li Cui; Lijun Zhu; Heqian Du; Jing Liu; Chenglin Wang; Shaokuan Fang
Journal:  Medicine (Baltimore)       Date:  2018-09       Impact factor: 1.817

Review 4.  Spinocerebellar ataxia type 23 (SCA23): a review.

Authors:  Fan Wu; Xu Wang; Xiaohan Li; Huidi Teng; Tao Tian; Jing Bai
Journal:  J Neurol       Date:  2020-11-11       Impact factor: 6.682
  4 in total

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