(Q47708260)

English

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

scientific article published on 17 November 2017

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scholarly article

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. (English)

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Lauren Phillips

object named as

Lauren Phillips

4

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17

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Volker Straub

1 reference

Europe PubMed Central

5 February 2018

Anna Kostera-Pruszczyk

13

object named as

Anna Kostera-Pruszczyk

1 reference

Europe PubMed Central

5 February 2018

Anna Łusakowska

12

object named as

Anna Łusakowska

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

author name string

Katherine Johnson

1

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Ana Töpf

2

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Marta Bertoli

3

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Kristl G Claeys

5

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Vidosava Rakocevic Stojanovic

6

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Stojan Perić

7

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Andreas Hahn

8

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Paul Maddison

9

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Ela Akay

10

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Alexandra E Bastian

11

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Monkol Lek

14

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Liwen Xu

15

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Daniel G MacArthur

16

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

publication date

17 November 2017

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

12

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

173

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5 February 2018

http://europepmc.org/abstract/PMC/5693551

1

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

https://scigraph.springernature.com/pub.10.1186/s13023-017-0722-1

0 references

Analysis of protein-coding genetic variation in 60,706 humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Limb-girdle muscular dystrophies - international collaborations for translational research

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

The limb-girdle muscular dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

ClinVar: public archive of relationships among sequence variation and human phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

PhenoTips: patient phenotyping software for clinical and research use.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Pompe disease: early diagnosis and early treatment make a difference.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Toward deconstructing the phenotype of late-onset Pompe disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

What can exome sequencing do for you?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

A framework for variation discovery and genotyping using next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

A method and server for predicting damaging missense mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Physical therapy management of Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Pompe disease diagnosis and management guideline.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

22 May 2018

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5693551

14 August 2018

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/29149851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29149851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/29149851

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-017-0722-1

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s13023-017-0722-1

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/PMC/5693551

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