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
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
Wiseman JP et al.
Embo Molecular Medicine, 2024
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Saffari A et al.
Nature Communications, 2024
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.
Saffari A et al.
Research Square, 2023
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D et al.
Neurology, 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
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
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
Whole-exome sequencing for variant discovery in blepharospasm.
Tian J et al.
Molecular Genetics & Genomic Medicine, 2018
29770609 (PubMed )
Supplement: MGG3-6-601-s002.pdf
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D et al.
American Journal of Medical Genetics. Part A, 2018
Select a paper to view details