(Q47710397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19475438%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

U1 snRNA mis-binding: a new cause of CMT1B (English)

1 reference

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29 January 2020

author

Nathalie Bonello-Palot

6

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29 January 2020

author name string

Hervé Crehalet

1

1 reference

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29 January 2020

Philippe Latour

2

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29 January 2020

Véronique Bonnet

3

1 reference

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29 January 2020

Shahram Attarian

4

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29 January 2020

Pierre Labauge

5

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29 January 2020

Rafaelle Bernard

7

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29 January 2020

Gilles Millat

8

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29 January 2020

Robert Rousson

9

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29 January 2020

Dominique Bozon

10

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29 January 2020

publication date

28 May 2009

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29 January 2020

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29 January 2020

volume

11

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29 January 2020

issue

1

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29 January 2020

page(s)

13-19

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https://scigraph.springernature.com/pub.10.1007/s10048-009-0199-8

29 January 2020

exact match

0 references

cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0199-8

Synthesis of human U1 RNA. II. Identification of two regions of the promoter essential for transcription initiation at position +1

21 January 2018

1 reference

12 December 2020

Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

1 reference

12 December 2020

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

1 reference

12 December 2020

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients

1 reference

12 December 2020

Characterization of small nuclear RNA U1 gene candidates and pseudogenes from the human genome

1 reference

12 December 2020

Phenotypic clustering in MPZ mutations

1 reference

12 December 2020

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

1 reference

12 December 2020

Improved splice site detection in Genie

1 reference

12 December 2020

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

12 December 2020

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

1 reference

12 December 2020

Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B

1 reference

12 December 2020

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations

1 reference

12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

12 December 2020

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternative exon 3 splicing of the human major protein zero gene in white blood cells and peripheral nerve tissue

1 reference

12 December 2020

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

12 December 2020

The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells

1 reference

12 December 2020

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

1 reference

12 December 2020

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

12 December 2020

SplicePort--an interactive splice-site analysis tool

1 reference

12 December 2020

Splicing in action: assessing disease causing sequence changes

1 reference

12 December 2020

10.1007/S10048-009-0199-8

Identifiers

DOI

1 reference

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29 January 2020

1 reference