Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1
The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
Hortsch M et al.
Advances in Neurobiology, 2014
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
Genotype-phenotype correlation in L1 associated diseases.
Fransen E et al.
Journal of Medical Genetics, 1998
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
X linked hydrocephalus and MASA syndrome.
Kenwrick S et al.
Journal of Medical Genetics, 1996
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