(Q31043843)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy (English)

1 reference

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19 January 2020

1

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19 January 2020

Jordi Díaz-Manera

3

1 reference

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19 January 2020

Ricard Rojas-Garcia

4

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19 January 2020

Bàrbara Flix

6

1 reference

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19 January 2020

Silvère M van der Maarel

8

1 reference

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19 January 2020

author name string

Noemi de Luna

2

1 reference

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19 January 2020

Lidia Gonzalez-Quereda

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Antoine de Morrée

7

1 reference

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19 January 2020

Isabel Illa

9

1 reference

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19 January 2020

language of work or name

English

0 references

publication date

16 December 2011

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19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

6

1 reference

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19 January 2020

issue

12

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19 January 2020

page(s)

e29061

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Creative Commons Attribution 4.0 International

19 January 2020

copyright license

start time

16 December 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Novel diagnostic features of dysferlinopathies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Differential recognition of vascular and parenchymal beta amyloid deposition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Dysferlin-deficient muscular dystrophy features amyloidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Dysferlin interacts with affixin (beta-parvin) at the sarcolemma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Miyoshi myopathy patients with novel 5' splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

A new phenotype of dysferlinopathy with congenital onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Late onset in dysferlinopathy widens the clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0029061

In vivo and in vitro dysferlin expression in human muscle satellite cells

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb--girdle muscular dystrophies.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3241698

Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients

25 November 2018

1 reference

12 December 2020

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

1 reference

12 December 2020

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

1 reference

12 December 2020

Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis

1 reference

12 December 2020

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

1 reference

12 December 2020

Intracellular localization of dysferlin and its association with the dihydropyridine receptor

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0029061

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22194990%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference