Literature DB >> 24824269

A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.

Xianling Wang1, Yanhui Yang2, Xiangbo Wang1, Cunjiang Li3, Jianping Jia1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 24824269

Source DB:  PubMed          Journal:  Chin Med J (Engl)        ISSN： 0366-6999            Impact factor:   2.628


× No keyword cloud information.
  4 in total

Review 1.  SPG8 mutations in Italian families: clinical data and literature review.

Authors:  Federica Ginanneschi; Angelica D'Amore; Melissa Barghigiani; Alessandra Tessa; Alessandro Rossi; Filippo Maria Santorelli
Journal:  Neurol Sci       Date:  2019-12-09       Impact factor: 3.307

Review 2.  Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.

Authors:  Christelle Tesson; Jeanette Koht; Giovanni Stevanin
Journal:  Hum Genet       Date:  2015-03-11       Impact factor: 4.132

3.  The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Authors:  Amir Jahic; Mukhran Khundadze; Nadine Jaenisch; Rebecca Schüle; Sven Klimpe; Stephan Klebe; Christiane Frahm; Jan Kassubek; Giovanni Stevanin; Ludger Schöls; Alexis Brice; Christian A Hübner; Christian Beetz
Journal:  Orphanet J Rare Dis       Date:  2015-11-16       Impact factor: 4.123

4.  FAM21 directs SNX27-retromer cargoes to the plasma membrane by preventing transport to the Golgi apparatus.

Authors:  Seongju Lee; Jaerak Chang; Craig Blackstone
Journal:  Nat Commun       Date:  2016-03-09       Impact factor: 14.919
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.