(Q45721301)

English

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

scientific article published in August 2008

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Pelizaeus-Merzbacher disease

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inferred from title

Catherine Vaurs-Barrière

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Marie-Noëlle Bonnet-Dupeyron

1

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Patricia Combes

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Paola Santander

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Fabrice Cailloux

4

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7 January 2020

Odile Boespflug-Tanguy

5

1 reference

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7 January 2020

publication date

1 August 2008

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Europe PubMed Central

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7 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

29

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7 January 2020

8

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7 January 2020

1028-1036

1 reference

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PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Aberrant termination triggers nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

The pathobiology of myelin mutants reveal novel biological functions of the MBP and PLP genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Pre-mRNA splicing and human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

A PLP splicing abnormality is associated with an unusual presentation of PMD.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure and expression of proteolipid protein in the peripheral nervous system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Automated splicing mutation analysis by information theory.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Myelin-specific proteolipid protein is expressed in myelinating Schwann cells but is not incorporated into myelin sheaths

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

An update on the leukodsytrophies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

PLP1 alternative splicing in differentiating oligodendrocytes: characterization of an exonic splicing enhancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20758

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20758

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18470932%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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