(Q86739281)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23653251%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Clinical and molecular characterization of McArdle's disease in Brazilian patients (English)

1 reference

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29 February 2020

2

1 reference

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29 February 2020

author name string

Juliana Gurgel-Giannetti

1

1 reference

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29 February 2020

Hélio van der Linden

3

1 reference

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29 February 2020

Túlio Marcus Ribeiro Bellard

4

1 reference

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29 February 2020

Geraldo Brasileiro Filho

5

1 reference

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29 February 2020

Alexandre Varella Giannetti

6

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29 February 2020

Eralda Luiza de Castro Concentino

7

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29 February 2020

Mariz Vainzof

8

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29 February 2020

publication date

8 May 2013

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29 February 2020

published in

NeuroMolecular Medicine

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29 February 2020

volume

15

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29 February 2020

issue

3

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29 February 2020

page(s)

470-475

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https://scigraph.springernature.com/pub.10.1007/s12017-013-8233-2

29 February 2020

exact match

0 references

cites work

The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease

1 reference

12 December 2020

Pitfalls in electrodiagnosis

1 reference

12 December 2020

One-year follow-up in a child with McArdle disease: exercise is medicine

1 reference

12 December 2020

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

1 reference

12 December 2020

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

1 reference

12 December 2020

McArdle disease: molecular genetic update

1 reference

12 December 2020

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease.

1 reference

12 December 2020

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

1 reference

12 December 2020