Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG2
PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Yao L et al.
Annals of Clinical and Translational Neurology, 2023
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH et al.
Human Mutation, 2019
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R et al.
Clinical Genetics, 2014
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