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
L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
Yang W et al.
Gene, 2023
Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.
Gauntner TD et al.
Clinical Case Reports, 2021
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
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