(Q73362459)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734659%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Clinical, morphological and immunological evaluation of six patients with dysferlin deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734659%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

9

C. Zecca

1 reference

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31 December 2023

author name string

A. Prelle

1

1 reference

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31 December 2023

M. Sciacco

2

1 reference

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31 December 2023

L. Tancredi

3

1 reference

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31 December 2023

G. Fagiolari

4

1 reference

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31 December 2023

G. P. Comi

5

1 reference

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31 December 2023

P. Ciscato

6

1 reference

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31 December 2023

M. Serafini

7

1 reference

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31 December 2023

F. Fortunato

8

1 reference

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31 December 2023

A. Gallanti

10

1 reference

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31 December 2023

L. Chiveri

11

1 reference

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31 December 2023

N. Bresolin

12

1 reference

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31 December 2023

G. Scarlato

13

1 reference

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31 December 2023

M. Moggio

14

1 reference

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31 December 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12734659

31 December 2023

publication date

4 March 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734659%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734659%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

105

1 reference

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3 November 2019

issue

6

1 reference

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3 November 2019

page(s)

537-542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12734659%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00401-002-0654-1

3 November 2019

exact match

0 references

cites work

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

1

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

2

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

3

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Monoclonal antibody analysis of mononuclear cells in myopathies. IV: Cell-mediated cytotoxicity and muscle fiber necrosis

31 December 2023

4

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses

31 December 2023

5

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

31 December 2023

6

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

31 December 2023

7

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Functional evaluation of Duchenne muscular dystrophy: proposal for a protocol

31 December 2023

9

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients.

31 December 2023

11

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

12

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Expression of Fas antigen is not associated with apoptosis in human myopathies

31 December 2023

13

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

14

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

15

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

16

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

31 December 2023

17

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy

31 December 2023

18

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

An atypical case of partial merosin deficiency congenital muscular dystrophy

31 December 2023

20

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

Lack of apoptosis in mitochondrial encephalomyopathies

31 December 2023

21

1 reference

https://api.crossref.org/works/10.1007/S00401-002-0654-1

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

31 December 2023

23

1 reference

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