(Q46368478)

21 December 2017

title

Clinical variability in calpainopathy: what makes the difference? (English)

1 reference

21 December 2017

author

Vincenzo Nigro

7

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21 December 2017

Sergio Russo Matioli

Sergio Russo Matioli

5

0 references

Mariz Vainzof

Mariz Vainzof

2

0 references

Mayana Zatz

8

Mayana Zatz

1 reference

21 December 2017

Maria Rita Passos-Bueno

3

Maria Rita Passos-Bueno

1 reference

21 December 2017

Flávia de Paula

1

1 reference

21 December 2017

Rita de Cássia M Pavanello

4

1 reference

21 December 2017

Louise V B Anderson

6

1 reference

21 December 2017

publication date

1 December 2002

1 reference

21 December 2017

European Journal of Human Genetics

published in

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21 December 2017

volume

10

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21 December 2017

issue

12

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21 December 2017

page(s)

825-832

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21 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200888

exact match

0 references

cites work

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Calpain: a protease in search of a function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Skeletal Muscle-Specific Calpain, p94, and Connectin/Titin: Their Physiological Functions and Relationship to Limb-Girdle Muscular Dystrophy Type 2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Calpainopathy-a survey of mutations and polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Subgroup studies of black admixture within a mixed population of Bahia, Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

Structure and physiology of calpain, an enigmatic protease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

A novel aspect of calpain activation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

Dysferlin Protein Analysis in Limb-Girdle Muscular Dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200888

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200888

1 reference

21 December 2017

1 reference

21 December 2017