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
Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.
Jessen-Howard D et al.
International Journal of Molecular Sciences, 2023
37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_
[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
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
Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia.
Steenhof M et al.
Neurogenetics, 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
Self-assembly of the isolated KCNQ2 subunit interaction domain.
Wehling C et al.
Febs Letters, 2007
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