Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features.
Ahmed RR et al.
Molecular Syndromology, 2023
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.
Yaron Y et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs.
Meyer K et al.
Cell, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Cellular signalling mechanisms of neural cell adhesion molecules.
Panicker AK et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2003
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
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
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
Neural cell recognition molecule L1: relating biological complexity to human disease mutations.
Kenwrick S et al.
Human Molecular Genetics, 2000
L1-associated diseases: clinical geneticists divide, molecular geneticists unite.
Fransen E et al.
Human Molecular Genetics, 1997
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.
Fransen E et al.
Human Molecular Genetics, 1994