(Q35024515)

5 August 2017

title

CRASH syndrome: mutations in L1CAM correlate with severity of the disease (English)

1 reference

5 August 2017

CRASH Syndrome: Mutations in L1CAM Correlate with Severity of the Disease (English)

1 reference

Crossref

DOI

10.1055/S-2007-973696

https://api.crossref.org/works/10.1055/S-2007-973696

severity of illness index

12 November 2024

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

12 November 2024

M. Yamasaki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

12 November 2024

P. Thompson

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

12 November 2024

V. Lemmon

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

12 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9266556

12 November 2024

publication date

1 June 1997

1 reference

5 August 2017

June 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9266556

full work available at URL

12 November 2024

https://europepmc.org/articles/pmc1563987?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

https://europepmc.org/articles/PMC1563987

12 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

https://europepmc.org/articles/PMC1563987?pdf=render

12 November 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9266556

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2007-973696.pdf

12 November 2024

file format

Portable Document Format

1 reference

Crossref

DOI

10.1055/S-2007-973696

https://api.crossref.org/works/10.1055/S-2007-973696

12 November 2024

1 reference

5 August 2017

1 reference

5 August 2017

1 reference

5 August 2017

page(s)

175-178

1 reference

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

5 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

CAM-FGF receptor interactions: a model for axonal growth

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

The L1 family of neural cell adhesion molecules: old proteins performing new tricks

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Involvement of p90rsk in neurite outgrowth mediated by the cell adhesion molecule L1

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Differential effects of two hydrocephalus/MASA syndrome-related mutations on the homophilic binding and neuritogenic activities of the cell adhesion molecule L1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Casein kinase II phosphorylates the neural cell adhesion molecule L1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Agenesis of the corpus callosum associated with MASA syndrome.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Mutations in the cell adhesion molecule L1 cause mental retardation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Colocalization of the homophilic binding site and the neuritogenic activity of the cell adhesion molecule L1 to its second Ig-like domain

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

X linked recessive inheritance of agenesis of the corpus callosum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Analysis of Categorical Data by Linear Models

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

The MASA syndrome: a new heritable mental retardation syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Clasped-thumb mental retardation (MASA) syndrome: confirmation of linkage to Xq28.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Hydrocephalus and congenital clasped thumbs: a case report with electromyographic evaluation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

A new mutation of the L1CAM gene in an X-linked hydrocephalus family

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1563987

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

25 October 2018

1 reference

12 December 2020

Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus

1 reference

12 December 2020

A clinical and neuroradiological study of X-linked hydrocephalus in Japan

1 reference

12 December 2020

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

1 reference

12 December 2020

Aqueductal Stenosis in X-Linked Hydrocephalus: a Secondary Phenomenon?

1 reference

12 December 2020

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

1 reference

12 December 2020

Identifiers

DOI

10.1055/S-2007-973696

1 reference

5 August 2017

1 reference

5 August 2017

1 reference