Hereditary spastic paraplegia caused by mutations in the SPG4 gene-Reference-Cited by-同舟云学术

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Hereditary spastic paraplegia caused by mutations in the SPG4 gene

Published:2000-10 Issue:10 Volume:8 Page:771-776
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bürger Joachim,Fonknechten Nuria,Hoeltzenbein Maria,Neumann Luitgart,Bratanoff Elfriede,Hazan Jamilé,Reis André

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200528.pdf

Cited by 73 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics;Childhood Kidney Diseases;2024-02-28

2. 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

3. Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia;Movement Disorders;2023-07-02

4. A novel truncating variant of SPAST associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism;Frontiers in Neurology;2022-11-14

5. Modeling gain-of-function and loss-of-function components of SPAST-based hereditary spastic paraplegia using transgenic mice;Human Molecular Genetics;2021-12-22

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