Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG51
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.
Vilela J et al.
Frontiers in Molecular Neuroscience, 2022
36061363 (PubMed )
Supplement: Table_7.xlsx › Rare_de_novo_LoF
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J et al.
Journal of Genetics, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Mutations and Protein Interaction Landscape Reveal Key Cellular Events Perturbed in Upper Motor Neurons with HSP and PLS.
Gozutok O et al.
Brain Sciences, 2021
33947096 (PubMed )
Supplement: brainsci-11-00578-s001.zip › Supplementary_Table_1-HSP_and_PLS_genes_with_references_.pdf
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
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
34729478 (PubMed )
Supplement: fcab221_supplementary_data.zip › Supplementary_File_1.xlsx › Reported_AP-4_variants
Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Murakami H et al.
Brain & Development, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
32094338 (PubMed )
Supplement: 41398_2020_760_MOESM2_ESM.xlsx › De_novo
AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.
Davies AK et al.
Nature Communications, 2018
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
Kong XF et al.
Nature Immunology, 2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.
van Eyk CL et al.
Translational Psychiatry, 2018
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
van de Vosse E et al.
Human Mutation, 2017
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
Kong XF et al.
Plos One, 2013
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