Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Hereditary Spastic Paraplegy Associated with the AP4S1 Gene: A Case Series Highlighting Diagnostic Pitfalls and Phenotypic Variability.
Günay Ç et al.
Molecular Syndromology, 2025
[Clinical characteristics and genetic study of a child with Spastic paraplegia 52 due to variant of AP4S1 gene and a literature review].
Yang L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Heterozygous variants in AP4S1 are not associated with a neurological phenotype.
Quiroz V et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Autosomal Dominant Spastic Paraplegia With Dysregulation of Bowel Function Associated With Heterozygous AP4S1 Gene Mutation: Case Report.
Popescu C
Neurology. Genetics, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Tabansky I et al.
Frontiers in Immunology, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia.
Ebrahimi-Fakhari D et al.
Neurology, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Genetics of intellectual disability in consanguineous families.
Hu H et al.
Molecular Psychiatry, 2019
Hereditary spastic paraplegia presenting as limb dystonia with a rare SPG7 mutation.
Schaefer SM et al.
Neurology. Clinical Practice, 2018
AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
Davies AK et al.
Nature Communications, 2018
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E et al.
Clinical Genetics, 2018
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K et al.
Human Molecular Genetics, 2015