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
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
Yao Y et al.
Cell Biochemistry and Function, 2024
Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus.
Zhou H et al.
Frontiers in Genetics, 2022
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.
Shieh C et al.
Neurology. Genetics, 2015
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