(Q40500450)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Molecular diagnosis in LGMD2A: mutation analysis or protein testing? (English)

1 reference

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30 December 2019

11

1 reference

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30 December 2019

Corrado Angelini

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Giulio Piluso

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

Gabriele Siciliano

8

1 reference

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30 December 2019

author name string

M Fanin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

L Fulizio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

A C Nascimbeni

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

M Spinazzi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

V M Ventriglia

6

1 reference

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30 December 2019

G Ruzza

7

1 reference

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30 December 2019

C P Trevisan

9

1 reference

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30 December 2019

L Politano

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221789%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

publication date

1 July 2004

1 reference

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30 December 2019

1 reference

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30 December 2019

volume

24

1 reference

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30 December 2019

issue

1

1 reference

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30 December 2019

page(s)

52-62

1 reference

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Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Role of calpain in skeletal-muscle protein degradation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Characterization and expression of calpain 10. A novel ubiquitous calpain with nuclear localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

How neutral are synonymous codon mutations?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021

Calpain function in the differentiation of mesenchymal stem cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20058

7 January 2021