(Q30904608)

11 August 2017

Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data (English)

1 reference

11 August 2017

3

Leslie Biesecker

1 reference

11 August 2017

Mauricio De Castro

1

1 reference

11 August 2017

Jennifer Johnston

series ordinal

2

1 reference

11 August 2017

language of work or name

English

0 references

publication date

5 March 2015

1 reference

11 August 2017

1 reference

11 August 2017

17

1 reference

11 August 2017

12

1 reference

11 August 2017

1002-1006

1 reference

PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

A general framework for estimating the relative pathogenicity of human genetic variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Hypothesis-generating research and predictive medicine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Predicting deleterious amino acid substitutions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

McArdle's disease presenting with asymmetric, late-onset arm weakness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Profound biotinidase deficiency in two asymptomatic adults

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Fatal infantile form of muscle phosphorylase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4561039

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.9

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.9

Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.9

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.9

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

21 January 2018

1 reference

12 December 2020

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

1 reference

12 December 2020

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

1 reference

12 December 2020

Treatment of McArdle disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2015.9

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

25741863

1 reference