(Q35144130)

6 August 2017

title

Unusual presentation of pelizaeus-merzbacher disease: female patient with deletion of the proteolipid protein 1 gene (English)

1 reference

Pelizaeus-Merzbacher disease

6 August 2017

main subject

1 reference

based on heuristic

inferred from title

author

Robert S. Wallerstein

series ordinal

4

object named as

Robert Wallerstein

1 reference

6 August 2017

Teva Brender

1

1 reference

6 August 2017

Donna Wallerstein

series ordinal

2

1 reference

6 August 2017

John Sum

series ordinal

3

1 reference

6 August 2017

publication date

18 February 2015

1 reference

6 August 2017

published in

Case reports in genetics

1 reference

6 August 2017

volume

2015

1 reference

6 August 2017

page(s)

453105

1 reference

Creative Commons Attribution 3.0 Unported

6 August 2017

copyright license

start time

1 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348602

The molecular pathogenesis of Pelizaeus-Merzbacher disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348602

Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348602

Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4348602

The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25789183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1155/2015/453105

1 reference

6 August 2017

1 reference

6 August 2017

1 reference