(Q81579951)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17994553%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay (English)

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10 January 2020

1

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10 January 2020

Israel Fernandez-Cade

3

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10 January 2020

Alejandro Lucia

5

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10 January 2020

Joaquín Arenas

8

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10 January 2020

Miguel Angel Martín

10

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10 January 2020

author name string

Juan Carlos Rubio

2

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10 January 2020

Ines Garcia-Consuegra

4

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10 January 2020

Ana Cabello

6

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10 January 2020

Elena Garcia-Arumi

7

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10 January 2020

Antoni L Andreu

9

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10 January 2020

publication date

1 February 2008

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10 January 2020

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10 January 2020

volume

29

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10 January 2020

issue

2

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10 January 2020

page(s)

277-283

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Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation

10 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

The apolipoprotein B mRNA editing complex performs a multifunctional cycle and suppresses nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Standardizing mutation nomenclature: why bother?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Diagnosis of McArdle's disease by molecular genetic analysis of blood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Molecular genetics of McArdle's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

NF1mutation rather than individual genetic variability is the main determinant of theNF1-transcriptional profile of mutations affecting splicing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Novel mutation in the PYGM gene resulting in McArdle disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

PTC124 targets genetic disorders caused by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20649

7 January 2021

Identifiers

DOI

10.1002/HUMU.20649

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17994553%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference