(Q24678053)

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

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

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Pelizaeus-Merzbacher disease

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author name string

S Gencic

1

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D Abuelo

2

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M Ambler

3

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L D Hudson

4

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language of work or name

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publication date

September 1989

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American Journal of Human Genetics

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45

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3

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435-42

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DNA sequence analysis with a modified bacteriophage T7 DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

7 April 2017

Individual exons encode the integral membrane domains of human myelin proteolipid protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

7 April 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

7 April 2017

Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

7 April 2017

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=1683421

7 April 2017

Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mutant mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 September 2017

Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 September 2017

Unwrapping the genes of myelin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 September 2017

Recombination within the myelin basic protein gene created the dysmyelinating shiverer mouse mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 September 2017

Jimpy, an anomaly of, myelin maturation. Biochemical study of myelination phases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

DNA typing from single hairs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Myelin proteolipid protein gene structure and its regulation of expression in normal and jimpy mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Myelin proteolipid protein (PLP and DM-20) transcripts are deleted in jimpy mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

30 May 2018

Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant-jimpy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 November 2018

Comparative immunocytochemistry of Pelizaeus-Merzbacher disease, the jimpy mouse, and the myelin-deficient rat.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 November 2018

A single nucleotide difference in the gene for myelin proteolipid protein defines the jimpy mutation in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 November 2018

An AG----GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683421

28 November 2018

Hypomyelinated mutant mice. II. Myelination in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PELIZAEUS-MERZBACHER DISEASE. A STUDY IN NOSOLOGY

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'Shaking pups': a disorder of central myelination in the spaniel dog. III. Quantitative aspects of glia and myelin in the spinal cord and optic nerve

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypomyelinated mutant mice: description of jpmsd and comparison with jp and qk on their present genetic backgrounds

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Histochemistry & classification of Pelizaeus-Merzbacher disease]

1 reference

https://pubmed.ncbi.nlm.nih.gov/2773936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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