Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.
Huang YT et al.
Frontiers in Neurology, 2022
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M et al.
Neurology. Genetics, 2020
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.
Hewamadduma CA et al.
Neurology. Genetics, 2018
Clinical and genetic study of hereditary spastic paraplegia in Canada.
Chrestian N et al.
Neurology. Genetics, 2017
27957547 (PubMed )
Supplement: supp_3.1.e122_Table_e-1.xls › Feuil1
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
Yoon G et al.
Neurogenetics, 2013
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