Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Mice Mutated in the First Fibronectin Domain of Adhesion Molecule L1 Show Brain Malformations and Behavioral Abnormalities.
Granato V et al.
Biomolecules, 2024
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.
Wang P et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
A point mutation in the extracellular domain of L1 blocks its capacity to confer metastasis in colon cancer cells via CD10.
Haase G et al.
Oncogene, 2017
Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies.
Shieh C et al.
Neurology. Genetics, 2015
The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
Hortsch M et al.
Advances in Neurobiology, 2014
Pathological missense mutations of neural cell adhesion molecule L1 affect neurite outgrowth and branching on an L1 substrate.
Cheng L et al.
Molecular and Cellular Neurosciences, 2004
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo.
Rünker AE et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2003
Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.
Castellani V et al.
The Embo Journal, 2002
Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.
Michelson P et al.
Human Mutation, 2002
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis E et al.
Human Molecular Genetics, 2002
Abnormal corticospinal function but normal axonal guidance in human L1CAM mutations.
Dobson CB et al.
Brain : a Journal of Neurology, 2001
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Clinical mutations in the L1 neural cell adhesion molecule affect cell-surface expression.
Moulding HD et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2000
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
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Vits L et al.
Nature Genetics, 1994