Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China (Q34094843)

31 July 2017

title

Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China (English)

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limb-girdle muscular dystrophy

31 July 2017

main subject

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inferred from title

author name string

Omar Abdulmonem Mahmood

series ordinal

1

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31 July 2017

Xinmei Jiang

series ordinal

2

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31 July 2017

Qi Zhang

series ordinal

3

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31 July 2017

language of work or name

English

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publication date

1 July 2013

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Neural Regeneration Research

31 July 2017

published in

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31 July 2017

volume

8

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31 July 2017

issue

20

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31 July 2017

page(s)

1907-1918

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Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Heterogeneous characteristics of Korean patients with dysferlinopathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dysferlinopathy course and sportive activity: clues for possible treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Calpains: an elaborate proteolytic system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Limb-girdle muscular dystrophy 2A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Imaging systems for westerns: chemiluminescence vs. infrared detection

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Technical aspects of immunohistochemistry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

The 10 autosomal recessive limb-girdle muscular dystrophies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Defective membrane repair in dysferlin-deficient muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Mutations in the caveolin-3 gene: When are they pathogenic?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Science and Art in Preparing Tissues Embedded in Plastic for Light Microscopy, with Special Reference to Glycol Methacrylate, Glass Knives and Simple Stains

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Immunodetection analysis of muscular dystrophies in Mexico.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

5th Annual Dysferlin Conference 11–14 July 2011, Chicago, Illinois, USA

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Muscle membrane repair and inflammatory attack in dysferlinopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tissue

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Novel DYSF mutations in Thai patients with distal myopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dysferlinopathy: a clinical and histopathological study of 28 patients from India

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Revised spectrum of mutations in sarcoglycanopathies.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Sarcoglycanopathies: a clinico-pathological study

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Clinical heterogeneity in dysferlinopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Different manners of sarcoglycan expression in genetically proven alpha-sarcoglycan deficiency and gamma-sarcoglycan deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4145977

Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier

28 October 2018

1 reference

12 December 2020

Clinical and pathological features in 15 Chinese patients with calpainopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Limb-girdle muscular dystrophy in the United States

1 reference

12 December 2020

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I

1 reference

12 December 2020

High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia

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

Rapid screening for Japanese dysferlinopathy by fluorescent primer extension

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

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

1 reference

12 December 2020

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

12 December 2020

Identification of macrophages in the muscle biopsy preparations: a comparative study using specific monoclonal antimacrophage antibodies and acid phosphatase reaction

1 reference

12 December 2020

[Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]

1 reference

12 December 2020

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach

1 reference

12 December 2020

Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies

1 reference

12 December 2020

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

1 reference

12 December 2020

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

1 reference

12 December 2020

10.3969/J.ISSN.1673-5374.2013.20.010

Identifiers

DOI

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31 July 2017

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31 July 2017

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