Associated Papers
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
Doronzio PN et al.
Journal of Neurology, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.
Wiseman JP et al.
Embo Molecular Medicine, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic 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
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.
Beheshtian M et al.
Clinical Genetics, 2021
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T et al.
Epilepsia, 2020
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
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.
Szczałuba K et al.
Journal of Applied Genetics, 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
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
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Accogli A et al.
American Journal of Medical Genetics. Part A, 2018
Clinical and genetic characterization of AP4B1-associated SPG47.
Ebrahimi-Fakhari D et al.
American Journal of Medical Genetics. Part A, 2018
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
Abdollahpour H et al.
European Journal of Human Genetics : Ejhg, 2015