Literature DB >> 36103085

Novel mutation for SCA40 with initial presentation as retinitis pigmentosa.

Romana Perković1, Lovro Hrvoić2, Ivan Mandić3, Anamarija Soldo Koruga3, Silva Butković Soldo3.   

Abstract

Entities:  

Keywords:  CCDC88C; Retinitis pigmentosa; SCA40; Spinocerebellar ataxia

Year:  2022        PMID： 36103085     DOI： 10.1007/s13760-022-02094-w

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


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  5 in total

1.  Identification and characterization of a novel Dvl-binding protein that suppresses Wnt signalling pathway.

Authors:  Akihiko Oshita; Shosei Kishida; Hiroki Kobayashi; Tatsuo Michiue; Toshimasa Asahara; Makoto Asashima; Akira Kikuchi
Journal:  Genes Cells       Date:  2003-12       Impact factor: 1.891

2.  Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.

Authors:  Marta Leńska-Mieciek; Agnieszka Charzewska; Leszek Królicki; Dorota Hoffman-Zacharska; Zhefan Stephen Chen; Kwok-Fai Lau; Ho Yin Edwin Chan; Tomasz Gambin; Urszula Fiszer
Journal:  Mov Disord       Date:  2018-11-06       Impact factor: 10.338

Review 3.  The Wnt signaling pathway in retinal degenerations.

Authors:  Abigail S Hackam
Journal:  IUBMB Life       Date:  2005-06       Impact factor: 3.885

4.  A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Authors:  Ho Tsoi; Allen C S Yu; Zhefan S Chen; Nelson K N Ng; Anne Y Y Chan; Liz Y P Yuen; Jill M Abrigo; Suk Ying Tsang; Stephen K W Tsui; Tony M F Tong; Ivan F M Lo; Stephen T S Lam; Vincent C T Mok; Lawrence K S Wong; Jacky C K Ngo; Kwok-Fai Lau; Ting-Fung Chan; H Y Edwin Chan
Journal:  J Med Genet       Date:  2014-07-25       Impact factor: 5.941

5.  Spinocerebellar ataxia type 40: A case report and literature review.

Authors:  Fengyue Han; Dan Su; Chuanqiang Qu
Journal:  Transl Neurosci       Date:  2021-10-18       Impact factor: 1.757
  5 in total

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