Novel mutations in the SPAST gene cause hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Novel mutations in the SPAST gene cause hereditary spastic paraplegia

Published:2019-12 Issue: Volume:69 Page:125-133
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Zhu Zeyu,Zhang Chao,Zhao Guohua,Liu Qing,Zhong Ping,Zhang Mei,Tang Weiguo,Zhan Feixia,Tian Wotu,Wang Yan,Yin Kaili,Huang Xiaojun,Jiang Jingwen,Liu Xiaoli,Liu Shihua,Zhou Haiyan,Luan Xinghua,Tang Huidong,Wang Ying,Chen Shengdi,Cao Li

Funder

National Natural Science Foundation of China

National Key R&D Program of China

Shanghai Municipal Education Commission-Gaofeng Clinical Medicine Grant

Interdisciplinary Project of Shanghai Jiao Tong University

Science Research Project of Shanghai Municipal Commission of Health and Family Planning

Excellent Young Medical Talent Cultivation Program of Shanghai Health and Family Planning System

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference27 articles.

1. Hereditary spastic paraplegia SPG4: what is known and not known about the disease;Solowska;Brain,2015

2. Blackstone C. Converging cellular themes for the hereditary spastic paraplegias. Curr. Opin. Neurobiol.. p. 139-146.

3. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;Lo Giudice;Exp. Neurol.,2014

4. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation;Nielsen;Eur. J. Neurol.,2005

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1. Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4;Clinical Genetics;2024-02-25

2. Association between Hereditary Spastic Paraplegia and a Novel SPAST Exon 11 Mutation;J BIOL REG HOMEOS AG;2024

3. Hereditary spastic paraplegia: Novel insights into the pathogenesis and management;SAGE Open Medicine;2023-12-29

4. Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations;Frontiers in Neurology;2023-12-07

5. A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report;Molecular Medicine Reports;2023-02-21