Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.
Mustafa HJ et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024
L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.
Yang W et al.
Gene, 2023
Prenatal exome sequencing in fetuses with callosal anomalies.
Lei TY et al.
Prenatal Diagnosis, 2022
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
Hydrocephalus with Hirschsprung disease: severe end of X-linked hydrocephalus spectrum.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2012
Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
Okamoto N et al.
Journal of Human Genetics, 2004
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?
Parisi MA et al.
American Journal of Medical Genetics, 2002
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis E et al.
Human Molecular Genetics, 2002
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
Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E et al.
The Embo Journal, 1999
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.
Gu SM et al.
American Journal of Medical Genetics, 1997
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997