Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1
Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients.
Sun H et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Adle-Biassette H et al.
Acta Neuropathologica, 2013
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Select a paper to view details