A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegia
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference6 articles.
1. Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia;Odake;Neurol Genet,2020
2. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78);Estrada-Cuzcano;Brain,2017
3. Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism;Podhajska;PLoS One,2012
4. Genetic and phenotypic characterization of complex hereditary spastic paraplegia;Kara;Brain,2016
5. Intermediate phenotype of ATP13A2 mutation in two Chilean siblings: towards a continuum between parkinsonism and hereditary spastic paraplegia;Miranda;Park. Relat. Disord.,2020
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