Genotype-phenotype correlation in L1 associated diseases.

Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin

1988 • 653 citations

Hippocampal long-term potentiation and neural cell adhesion molecules L1 and NCAM

1994 • 557 citations

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

1994 • 426 citations

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus

1992 • 319 citations

The neural cell adhesion molecule N-CAM enhances L1-dependent cell-cell interactions.

1990 • 305 citations

The L1 Family of Neural Cell Adhesion Molecules: Old Proteins Performing New Tricks

1996 • 265 citations

CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

1995 • 233 citations

Mutations in the cell adhesion molecule LI cause mental retardation

1995 • 192 citations

L1-associated diseases: clinical geneticists divide, molecular geneticists unite

1997 • 191 citations

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

1994 • 155 citations

Molecular structure and functional testing of human L1CAM: An interspecies comparison

1991 • 154 citations

Cell-adhesion molecules, glucocorticoids and long-term-memory formation

1995 • 143 citations

Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders.

1996 • 128 citations

The Syndrome of Sex-linked Hydrocephalus

1961 • 111 citations

Linkage studies of X-linked recessive spastic paraplegia using DNA probes

1986 • 111 citations

A duplication in the L1CAM gene associated with X–linked hydrocephalus

1993 • 96 citations

Sex-linked Hydrocephalus: Report of a Family with 15 Affected Members

1961 • 89 citations

X‐linked hydrocephalus

1987 • 84 citations

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

1996 • 79 citations

The Cytoplasmic Domain of the Drosophila Cell Adhesion Molecule Neuroglian Is Not Essential for Its Homophilic Adhesive Properties in S2 Cells

1995 • 74 citations

New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

1995 • 66 citations

X linked recessive inheritance of agenesis of the corpus callosum.

1983 • 64 citations

MASA syndrome: further clinical delineation and chromosomal localisation

1989 • 64 citations

Evidence for Cis Interaction and Cooperative Signalling by the Heat‐stable Antigen Nectadrin (murine CD24) and the Cell Adhesion Molecule L1 in Neurons

1995 • 64 citations

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

1995 • 63 citations

The cell adhesion molecule L1: species- and cell-type-dependent multiple binding mechanisms

1997 • 60 citations

MASA syndrome: new clinical features and linkage analysis using DNA probes.

1990 • 56 citations

The cytoplasmic domain of the cell adhesion molecule L1 is not required for homophilic adhesion

1995 • 54 citations

Heat-stable antigen (mouse CD24) in the brain: dual but distinct interaction with P-selectin and L1

1997 • 54 citations

Clinical aspects of the MASA syndrome in a large family, including expressing females

1994 • 53 citations

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

1995 • 49 citations

Exon 2 of the gene for neural cell adhesion molecule Ll is alternatively spliced in B cells

1995 • 40 citations

Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

1993 • 40 citations

Mental retardation‐clasped thumb syndrome

1984 • 39 citations

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

1992 • 36 citations

Cytoplasmic Control of Cadherin-mediated Cell-Cell Adhesion

1992 • 34 citations

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

1994 • 31 citations

Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28

1992 • 27 citations

Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

1996 • 27 citations

Agenesis of the corpus callosum associated with MASA syndrome

1993 • 26 citations

Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.

1987 • 23 citations

X‐linked mental retardation with bilateral clasped thumbs: report of another affected family

1991 • 20 citations

Evidence for somatic and germline mosaicism in CRASH syndrome

1998 • 17 citations

A deletion of five nucleotides in the LICAM gene in a Japanese family with X-linked hydrocephalus

1996 • 14 citations