Associated Papers
A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.
Yoldaş Çelik M et al.
Jimd Reports, 2026
A Novel AP4M1 Variant in an Iranian Child with Spastic Paraplegia 50: A Case Report and Molecular Docking Approach.
Esmaeil Lashgarian H et al.
Iranian Journal of Medical Sciences, 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
Identifying inherited metabolic disorders in children: the role of elevated creatine kinase.
Yoldaş Çelik M et al.
Bmc Pediatrics, 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
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA et al.
Pediatric Neurology, 2024
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Becker A et al.
Clinical Genetics, 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
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 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
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Roubertie A et al.
Neurology. Genetics, 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
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