(Q38553524)

4 September 2017

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

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4 September 2017

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10

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4 September 2017

11

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4 September 2017

Giulio Piluso

9

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Enzo Ricci

object named as

Enzo Ricci

8

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author name string

Mafalda Cacciottolo

1

1 reference

4 September 2017

Gelsomina Numitone

2

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4 September 2017

Stefania Aurino

3

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4 September 2017

Imma Rosaria Caserta

4

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4 September 2017

Marina Fanin

5

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4 September 2017

Luisa Politano

6

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4 September 2017

Carlo Minetti

7

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4 September 2017

27 April 2011

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4 September 2017

7

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European Journal of Human Genetics

inferred from page(s)

published in

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4 September 2017

19

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4 September 2017

9

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4 September 2017

974-980

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Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported

4 September 2017

start time

27 April 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3179367/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.70

0 references

cites work

Novel diagnostic features of dysferlinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

New aspects on patients affected by dysferlin deficient muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Clinical and pathological characteristics of four Korean patients with limb-girdle muscular dystrophy type 2B.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Characterisation of the dysferlin skeletal muscle promoter

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Messenger RNA degradation: beginning at the end.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

An mRNA surveillance mechanism that eliminates transcripts lacking termination codons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Denaturing high-performance liquid chromatography: A review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Identification of the Syrian hamster cardiomyopathy gene.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B).

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Novel DYSF mutations in Thai patients with distal myopathy.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Analysis of the DYSF mutational spectrum in a large cohort of patients

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Clinical heterogeneity in dysferlinopathy

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

Nomenclature for the description of human sequence variations.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3179367

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

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.70

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.70

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.70

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

21 January 2018

1 reference

12 December 2020

Molecular biology. Skiing toward nonstop mRNA decay

1 reference

12 December 2020

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

12 December 2020

Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E

1 reference

12 December 2020

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families

1 reference

12 December 2020

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

1 reference

12 December 2020

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

1 reference

12 December 2020

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.70

1 reference

4 September 2017

1 reference

4 September 2017

1 reference