(Q30375620)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies (English)

1 reference

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23 January 2020

1

1 reference

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23 January 2020

Fiore Manganelli

8

1 reference

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23 January 2020

author name string

Paola Fossa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Simona Capponi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Alessandro Geroldi

4

1 reference

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23 January 2020

Massimo Acquaviva

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Rossella Gulli

6

1 reference

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23 January 2020

Paola Ciotti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Marina Grandis

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

Emilia Bellone

10

1 reference

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23 January 2020

publication date

18 March 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

23 January 2020

published in

1 reference

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23 January 2020

volume

17

1 reference

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23 January 2020

issue

9

1 reference

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23 January 2020

page(s)

1129-1134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Transmembrane domain of myelin protein zero can form dimers: possible implications for myelin construction

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Peripheral neuropathies caused by mutations in the myelin protein zero

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Myelin P0: new knowledge and new roles

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Myelin protein zero and membrane adhesion.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Role of myelin Po protein as a homophilic adhesion molecule

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.37

Different Intracellular Pathomechanisms Produce Diverse Myelin Protein Zero Neuropathies in Transgenic Mice

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.37

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986589

Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

26 November 2018

1 reference

12 December 2020

Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin

1 reference

12 December 2020

Normal expression of myelin protein zero with frame-shift mutation correlates with mild phenotype

1 reference

12 December 2020

Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19293842%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

PubMed publication ID

19293842

1 reference