(Q37685396)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

case report

0 references

title

Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

corrigendum / erratum

Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan.

0 references

author

Sergey Bardakov

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

Zoya R Umakhanova

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Mikhail O Mavlikeev

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Olga N Chernova

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Raisat M Magomedova

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Patimat G Akhmedova

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Ivan A Yakovlev

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Gimat D Dalgatov

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Valerii P Fedotov

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Artur A Isaev

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

Roman V Deev

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

language of work or name

1 reference

8 March 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

published in

Frontiers in Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

page(s)

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

The Clinical Outcome Study for dysferlinopathy: An international multicenter study

13 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

Dysferlin and muscular dystrophy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

Dysferlin is a plasma membrane protein and is expressed early in human development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5340769

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28337173

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28337173

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3389/FNEUR.2017.00077

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28337173%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference