Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG52
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE et al.
Neurology, 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
34729478 (PubMed )
Supplement: fcab221_supplementary_data.zip › Supplementary_File_1.xlsx › Reported_AP-4_variants
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 2017
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