Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG50
Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.
Francisco S et al.
Protein Science : a Publication of the Protein Society, 2025
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X et al.
The Journal of Clinical Investigation, 2023
36951961 (PubMed )
Supplement: jci-133-164575-s057.pdf
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50).
Eberhardt K et al.
Stem Cell Research, 2021
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D et al.
Brain Communications, 2021
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