(Q47671922)

4 February 2018

title

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations (English)

1 reference

4 February 2018

main subject

peripheral neuropathy

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James Y Garbern

1

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4 February 2018

Franca Cambi

2

1 reference

4 February 2018

Richard Lewis

3

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4 February 2018

Michael Shy

4

1 reference

4 February 2018

Anders Sima

5

1 reference

4 February 2018

George Kraft

6

1 reference

4 February 2018

J M Vallat

7

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4 February 2018

E P Bosch

8

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4 February 2018

M E Hodes

9

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4 February 2018

Stephen Dlouhy

10

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4 February 2018

Wendy Raskind

11

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4 February 2018

Thomas Bird

12

1 reference

4 February 2018

Wendy Macklin

13

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4 February 2018

John Kamholz

14

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4 February 2018

language of work or name

English

0 references

publication date

1 October 1999

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4 February 2018

Annals of the New York Academy of Sciences

number of pages

15

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based on heuristic

inferred from page(s)

published in

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4 February 2018

volume

883

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4 February 2018

issue

1

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4 February 2018

page(s)

351-365

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4 February 2018

Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Current concepts of PLP and its role in the nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Developmental Expression of Proteolipid Protein and DM20 mRNAs and Proteins in the Rat Brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

DM20 mRNA splice product of the myelin proteolipid protein gene is expressed in the murine heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Embryonic expression of myelin genes: evidence for a focal source of oligodendrocyte precursors in the ventricular zone of the neural tube

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Spatial segregation of mRNA encoding myelin-specific proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Structure and expression of proteolipid protein in the peripheral nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Expression of the proteolipid protein gene in glial cells of the post-natal peripheral nervous system of rodents

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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/10.1111%2FJ.1749-6632.1999.TB08597.X

Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Proteolipid protein interactions in transfectants: implications for myelin assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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/10.1111%2FJ.1749-6632.1999.TB08597.X

Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Genetics of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Proteolipid protein and DM-20 are synthesized by Schwann cells, present in myelin membrane, but they are not fatty acylated

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.1999.TB08597.X

10.1111/J.1749-6632.1999.TB08597.X

21 January 2018

Identifiers

DOI

1 reference

4 February 2018

1 reference

4 February 2018