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
Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
Zhou X et al.
Annals of Clinical and Translational Neurology, 2023
Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS.
Tantzer S et al.
Molecular Therapy. Nucleic Acids, 2018
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
Kevelam SH et al.
Annals of Clinical and Translational Neurology, 2015
Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
Laššuthová P et al.
Journal of Child Neurology, 2014
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
Hübner CA et al.
Human Mutation, 2005
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