Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG9
Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways.
Voložonoka L et al.
Plos One, 2024
39298385 (PubMed )
Supplement: pone.0310718.s001.xlsx › Sheet1
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.
Magini P et al.
Annals of Clinical and Translational Neurology, 2019
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Wei Q et al.
Translational Neurodegeneration, 2019
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.
Koh K et al.
Journal of Human Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M et al.
Brain : a Journal of Neurology, 2015
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