(Q77402205)

English

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement

scientific article published on 01 December 2001

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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:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

gene duplication

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based on heuristic

inferred from title

author name string

K Inoue

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

H Tanaka

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

F Scaglia

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

A Araki

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

L G Shaffer

5

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

J R Lupski

6

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5 December 2019

publication date

1 December 2001

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

number of pages

8

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inferred from page(s)

Annals of Neurology

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Europe PubMed Central

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5 December 2019

50

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5 December 2019

6

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5 December 2019

747-754

1 reference

Europe PubMed Central

PubMed publication ID

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5 December 2019

The proteolipid protein gene and myelin disorders in man and animal models

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

The molecular pathogenesis of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Genetics of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Proteolipid protein is necessary in peripheral as well as central myelin.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

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%2FANA.10036

21 January 2018

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Expression of the jimpy gene in the spinal cords of heterozygous female mice. 2. Oligodendroglial and endothelial cell hyperplasia

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Rumpshaker: an X-linked mutation affecting CNS myelination. A study of the female heterozygote

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Myelin mosaicism and brain plasticity in heterozygous females of a canine X-linked trait.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Embryonic stem cell-derived glial precursors: a source of myelinating transplants

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

MRI assessment of myelination of motor and sensory pathways in the brain of preterm and term-born infants.

1 reference

https://api.crossref.org/works/10.1002%2FANA.10036

21 January 2018

Identifiers

10.1002/ANA.10036

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11761472%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

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