Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease (Q36508553)

14 August 2017

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease (English)

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14 August 2017

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Stephanie Hurst

1

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14 August 2017

James Garbern

series ordinal

2

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14 August 2017

Angela Trepanier

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3

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14 August 2017

Alexander Gow

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4

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14 August 2017

language of work or name

English

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publication date

1 June 2006

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14 August 2017

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14 August 2017

8

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14 August 2017

6

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14 August 2017

371-378

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000223551.95862.c3

14 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Redefining the lipophilin family of proteolipid proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

The molecular pathogenesis of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Molecular pathways of oligodendrocyte apoptosis revealed by mutations in the proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

The inherited leukodystrophies: a clinical overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

A PLP splicing abnormality is associated with an unusual presentation of PMD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Proteolipid/DM-20 proteins bearing the paralytic tremor mutation in peripheral nerves and transfected Cos-7 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

CNS myelination and PLP gene dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000223551.95862.C3

10.1097/01.GIM.0000223551.95862.C3

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

14 August 2017

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1 reference