Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG47
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Sabbagh Q et al.
Journal of Neurology, 2025
39821477 (PubMed )
Supplement: 415_2025_12889_MOESM1_ESM.xlsx › Supp_Table_2
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
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D et al.
Brain : a Journal of Neurology, 2020
Integrating structural and evolutionary data to interpret variation and pathogenicity in adapter protein complex 4.
Gadbery JE et al.
Protein Science : a Publication of the Protein Society, 2020
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan WC et al.
Bmc Medical Genetics, 2020
32171285 (PubMed )
Supplement: 12881_2020_988_MOESM1_ESM.xlsx › Sheet1
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Behne R et al.
Human Molecular Genetics, 2020
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Teinert J et al.
Stem Cell Research, 2019
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D et al.
American Journal of Medical Genetics. Part A, 2018
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