Associated Papers
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A et al.
Bmc Medical Genomics, 2023
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
Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR.
Nagaraj K et al.
Human Molecular Genetics, 2009
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
Cis and trans interactions of L1 with neuropilin-1 control axonal responses to semaphorin 3A.
Castellani V et al.
The Embo Journal, 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
Neural cell recognition molecule L1: relating biological complexity to human disease mutations.
Kenwrick S et al.
Human Molecular 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
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
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
Du YZ et al.
Human Mutation, 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