Associated Papers
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.
Agianda HAP et al.
Annals of Clinical and Translational Neurology, 2026
A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature.
Guerra AT et al.
Clinical Case Reports, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.
Messaoud-Khelifi M et al.
Neurogenetics, 2025
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
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
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
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
Bellad A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Valence S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
Davies AK et al.
Nature Communications, 2018
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Bettencourt C et al.
Orphanet Journal of Rare Diseases, 2017
Severe congenital microcephaly with AP4M1 mutation, a case report.
Duerinckx S et al.
Bmc Medical Genetics, 2017
A comprehensive strategy for exome-based preconception carrier screening.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Tesson C et al.
Human Genetics, 2015
Contiguous mutation syndrome in the era of high-throughput sequencing.
Langouët M et al.
Molecular Genetics & Genomic Medicine, 2015
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
Tüysüz B et al.
American Journal of Medical Genetics. Part A, 2014
Genetic association study of adaptor protein complex 4 with cerebral palsy in a Han Chinese population.
Wang H et al.
Molecular Biology Reports, 2013
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Verkerk AJ et al.
American Journal of Human Genetics, 2009