(Q59876091)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11782994%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy (English)

1 reference

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5 December 2019

0 references

1 reference

2

1 reference

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5 December 2019

6

Robert H Brown

1 reference

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5 December 2019

author name string

Mengfatt Ho

1

1 reference

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5 December 2019

Diane McKenna-Yasek

3

1 reference

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5 December 2019

Noemi De Luna

4

1 reference

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5 December 2019

Isabel Illa

5

1 reference

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5 December 2019

publication date

1 January 2002

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5 December 2019

1 reference

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5 December 2019

volume

51

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5 December 2019

page(s)

129-133

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5 December 2019

issue

1

1 reference

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Making sense of the limb-girdle muscular dystrophies

5 December 2019

cites work

1 reference

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

21 January 2018

1 reference

The earliest pathologic alterations in dysferlinopathy

21 January 2018

1 reference

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

21 January 2018

1 reference

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

21 January 2018

1 reference

Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.10080

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11782994%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference