(Q42144462)

17 October 2017

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303228

11 September 2022

10

Shooter EM

1 reference

17 October 2017

1

Patel PI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1303228

11 September 2022

author name string

Roa BB

2

1 reference

17 October 2017

Welcher AA

3

1 reference

17 October 2017

Schoener-Scott R

4

1 reference

17 October 2017

Trask BJ

5

1 reference

17 October 2017

Pentao L

6

1 reference

17 October 2017

Snipes GJ

7

1 reference

17 October 2017

Garcia CA

8

1 reference

17 October 2017

Francke U

9

1 reference

17 October 2017

Lupski JR

11

1 reference

17 October 2017

Suter U

12

1 reference

17 October 2017

language of work or name

English

0 references

publication date

1 June 1992

1 reference

17 October 2017

1 reference

17 October 2017

1

1 reference

17 October 2017

159-165

1 reference

17 October 2017

3

1 reference

https://scigraph.springernature.com/pub.10.1038/ng0692-159

17 October 2017

0 references

cites work

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Two new mutants, ‘trembler’ and ‘reeler’, with neurological actions in the house mouse (Mus musculus L.)

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Status of the linkage map of the mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

https://api.crossref.org/works/10.1038%2FNG0692-159

1 reference

7 January 2021

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Schwann cell multiplication in Trembler mice

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

A growth arrest-specific (gas) gene codes for a membrane protein

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

A myelin protein is encoded by the homologue of a growth arrest-specific gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Hereditary demyelinating neuropathy in the Trembler mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Hereditary hypertrophic neuropathy in the trembler mouse. Part 1. Histopathological studies: light microscopy

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Hereditary hypertrophic neuropathy in the trembler mouse. Part 2. Histopathological studies: electron microscopy

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Abnormal myelination in transplanted Trembler mouse Schwann cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Thin axons relative to myelin spiral length in hereditary motor and sensory neuropathy, type I

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Decreased axon caliber and neurofilaments in hereditary motor and sensory neuropathy, type I

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Identification of transcriptionally regulated genes after sciatic nerve injury.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

The effects of cAMP on differentiation of cultured Schwann cells: progression from an early phenotype (04+) to a myelin phenotype (P0+, GFAP-, N-CAM-, NGF-receptor-) depends on growth inhibition

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Chromosomal mapping of genes involved in growth control

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Assignments of the human genes for lactate dehydrogenase-A and thymidine kinase to specific chromosomal regions

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

High efficiency vectors for cosmid microcloning and genomic analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

A genetic map of human chromosome 17p

1 reference

https://api.crossref.org/works/10.1038%2FNG0692-159

7 January 2021

Identifiers

DOI

10.1038/NG0692-159

1 reference

Dimensions Publication ID

17 October 2017

1028034135

0 references

Fatcat ID

release_h6kkiieln5hm7ezfi7egkrndjq

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/h6kkiieln5hm7ezfi7egkrndjq

24 November 2022

mapped directly with Wikidata item

1 reference