(Q35859252)

10 August 2017

Heterogeneous characteristics of Korean patients with dysferlinopathy (English)

1 reference

10 August 2017

Hyung Jun Park

1

1 reference

10 August 2017

Ji-Man Hong

2

1 reference

10 August 2017

Gyoung Im Suh

3

1 reference

10 August 2017

Ha Young Shin

4

1 reference

10 August 2017

Seung Min Kim

5

1 reference

10 August 2017

Il Nam Sunwoo

6

1 reference

10 August 2017

Bum Chun Suh

7

1 reference

10 August 2017

Young-Chul Choi

8

1 reference

10 August 2017

21 March 2012

1 reference

Journal of Korean Medical Science

10 August 2017

1 reference

10 August 2017

27

1 reference

10 August 2017

4

1 reference

10 August 2017

423-429

1 reference

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Novel diagnostic features of dysferlinopathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Differential immunohistological features of inflammatory myopathies and dysferlinopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

New aspects on patients affected by dysferlin deficient muscular dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Limb-girdle muscular dystrophies: heterogeneity of clinical phenotypes and pathogenetic mechanisms.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Dysferlin and the plasma membrane repair in muscular dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Defective membrane repair in dysferlin-deficient muscular dystrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Muscle membrane repair and inflammatory attack in dysferlinopathy.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

4th Annual Dysferlin Conference 11-14 September 2010, Washington, USA.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Clinical heterogeneity in dysferlinopathy

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314856

Limb-girdle muscular dystrophy in the United States

24 September 2018

1 reference

12 December 2020

Sporadic inclusion body myositis correlates with increased expression and cross-linking by transglutaminases 1 and 2

1 reference

12 December 2020

Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation

1 reference

12 December 2020

Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy

1 reference

12 December 2020

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

1 reference

12 December 2020

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene

1 reference

12 December 2020

10.3346/JKMS.2012.27.4.423

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference