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
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Ahmed RR et al.
Molecular Syndromology, 2023
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
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A et al.
Annals of Clinical and Translational Neurology, 2021
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
Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.
Fernández RM et al.
American Journal of Medical Genetics. Part A, 2012
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2012
L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease.
Jackson SR et al.
Pediatric Surgery International, 2009
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
Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
MacFarlane JR et al.
Human Mutation, 1997
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997
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