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
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A et al.
Annals of Clinical and Translational Neurology, 2021
The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.
Hortsch M et al.
Advances in Neurobiology, 2014
L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.
Tagliavacca L et al.
Journal of Neurochemistry, 2013
Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.
Kudumala S et al.
Plos One, 2013
Homophilic interaction of the L1 family of cell adhesion molecules.
Wei CH et al.
Experimental & Molecular Medicine, 2012
Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation.
Itoh K et al.
Journal of Neuroscience Research, 2011
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.
Schäfer MK et al.
Neurobiology of Disease, 2010
CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?
Zhang L
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2010
Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.
Nakamura Y et al.
The Journal of Comparative Neurology, 2010
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
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
The role of sodium channels in cell adhesion.
Isom LL
Frontiers in Bioscience : a Journal and Virtual Library, 2002
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S et al.
Human Mutation, 2001
Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.
De Angelis E et al.
The Embo Journal, 1999
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
A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.
Okamoto N et al.
The Japanese Journal of Human Genetics, 1996
X linked hydrocephalus and MASA syndrome.
Kenwrick S et al.
Journal of Medical Genetics, 1996
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E et al.
European Journal of Human Genetics : Ejhg, 1995
X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.
Jouet M et al.
Nature Genetics, 1994
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
Vits L et al.
Nature Genetics, 1994
A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)
Jouet M et al.
Nature Genetics, 1993