(Q50707832)

English

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

scientific article published on 27 May 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

genotype-phenotype correlation

1 reference

based on heuristic

inferred from title

author name string

Roberta Biancheri

1

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Serena Grossi

2

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Stefano Regis

3

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Andrea Rossi

4

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Fabio Corsolini

5

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Daniela Paola Rossi

6

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Pietro Cavalli

7

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Mariasavina Severino

8

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Mirella Filocamo

9

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

publication date

27 May 2013

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

85

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

3

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

267-272

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

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/10.1111%2FCGE.12154

21 January 2018

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Endoplasmic reticulum stress in disorders of myelinating cells.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Genetic background determines phenotypic severity of the Plp rumpshaker mutation.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Genetic background influences UPR but not PLP processing in the rumpshaker model of PMD/SPG2.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1111%2FCGE.12154

21 January 2018

Identifiers

10.1111/CGE.12154

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23711321

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