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
Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.
Mustafa HJ et al.
American Journal of Obstetrics & Gynecology Mfm, 2023
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant.
Wang P et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
NOG-Derived Peptides Can Restore Neuritogenesis on a CRASH Syndrome Cell Model.
Gasparotto M et al.
Biomedicines, 2022
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Accogli A et al.
Annals of Clinical and Translational Neurology, 2021
L1CAM mutations in three fetuses diagnosed by medical exome sequencing.
Li YT et al.
Taiwanese Journal of Obstetrics & Gynecology, 2020
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
Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.
Marx M et al.
Neurogenetics, 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
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
The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins.
Thelen K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002
Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression.
De Angelis E et al.
Human Molecular Genetics, 2002
Cytoplasmic domain mutations of the L1 cell adhesion molecule reduce L1-ankyrin interactions.
Needham LK et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
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
CRASH syndrome: mutations in L1CAM correlate with severity of the disease.
Yamasaki M et al.
Neuropediatrics, 1997
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
Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.
Bateman A et al.
The Embo Journal, 1996
Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.
Zhao X et al.
The Journal of Biological Chemistry, 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