(Q35889741)

English

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group

scientific article published in September 1994

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group (English)

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Pelizaeus-Merzbacher disease

1 reference

based on heuristic

inferred from title

author name string

Boespflug-Tanguy O

1

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Mimault C

2

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Melki J

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Cavagna A

4

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Giraud G

5

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Pham Dinh D

6

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Dastugue B

7

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

Dautigny A

8

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

language of work or name

0 references

publication date

1 September 1994

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

55

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

461-467

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

A rapid method for the purification of DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Pelizaeus-Merzbacher disease: clinical and nosological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Cellular and molecular aspects of myelin protein gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Report of the committee on linkage and gene order

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

MSP RFLP for X-linked proteolipid protein gene (PLP) identified with either rat or human PLP cDNA clone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Alport syndrome: a genetic study of 31 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

11 July 2018

A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918422

24 September 2018

Pelizaeus-merzbacher disease: Clinical and DNA-linkage study of an extended family

1 reference

https://pubmed.ncbi.nlm.nih.gov/7915877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/7915877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/7915877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pelizaeusmerzbacher disease "infantile acute type"; report of a family

1 reference

https://pubmed.ncbi.nlm.nih.gov/7915877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Proteolipid DM-20 predominates over PLP in peripheral nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/7915877

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

10 August 2017

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