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
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities.
Luo C et al.
Molecular Genetics & Genomic Medicine, 2024
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
Exome sequencing identified NRG3 as a novel susceptible gene of Hirschsprung's disease in a Chinese population.
Yang J et al.
Molecular Neurobiology, 2013
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.
Finckh U et al.
American Journal of Medical Genetics, 2000
Neural cell recognition molecule L1: from cell biology to human hereditary brain malformations.
Brümmendorf T et al.
Current Opinion in Neurobiology, 1998
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.
Gu SM et al.
Journal of Medical Genetics, 1996
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