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
Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus.
Zhou S et al.
Frontiers in Genetics, 2025
Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.
Wang R et al.
Experimental and Therapeutic Medicine, 2021
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
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