Associated Papers
Evaluating seven bioinformatics platforms for tertiary analysis of genomic data from whole exome sequencing in a pilot group of patients.
Bastida-Lertxundi N et al.
Advances in Laboratory Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4
A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia.
Sbragia E et al.
Eneurologicalsci, 2024
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
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