(Q37013290)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670407%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Neuropathy in a human without the PMP22 gene (English)

1 reference

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4 February 2020

2

1 reference

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4 February 2020

Michael Shy

11

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4 February 2020

10

Mary M Reilly

1 reference

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4 February 2020

9

Ueli Suter

1 reference

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4 February 2020

author name string

Mario Andre Saporta

1

1 reference

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4 February 2020

Xuebao Zhang

3

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4 February 2020

Helen P Roper

4

1 reference

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4 February 2020

Louise McClelland

5

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4 February 2020

Fiona Macdonald

6

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4 February 2020

Louise Brueton

7

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4 February 2020

Julian Blake

8

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4 February 2020

Jun Li

12

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4 February 2020

publication date

1 June 2011

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4 February 2020

published in

Archives of Neurology

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4 February 2020

volume

68

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4 February 2020

issue

6

1 reference

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4 February 2020

page(s)

814-821

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Conduction block in PMP22 deficiency.

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Varying survival of motoneurons and activation of distinct molecular mechanism in response to altered peripheral myelin protein 22 gene dosage.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

The peripheral myelin protein 22 and epithelial membrane protein family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Developmental abnormalities in the nerves of peripheral myelin protein 22-deficient mice

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Peripheral myelin protein 22 is expressed in human central nervous system

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Distal axonopathy in peripheral nerves of PMP22-mutant mice

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3711535

Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name

4 September 2018

1 reference

12 December 2020

Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

PMP-22 expression in the central nervous system of the embryonic mouse defines potential transverse segments and longitudinal columns

1 reference

12 December 2020

10.1001/ARCHNEUROL.2011.110

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21670407%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

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4 February 2020

PubMed publication ID

21670407

1 reference