(Q57398215)

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

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1 November 2019

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

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1 November 2019

muscular dystrophy

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inferred from title

3

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1 November 2019

Elisabeth Vafiadaki

4

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1 November 2019

10

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1 November 2019

Jacques S Beckmann

17

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1 November 2019

author name string

L V Anderson

1

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1 November 2019

R M Harrison

2

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1 November 2019

C Pollitt

5

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1 November 2019

K Davison

6

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1 November 2019

J A Moss

7

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1 November 2019

S Keers

8

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1 November 2019

A Pyle

9

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1 November 2019

I Mahjneh

11

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1 November 2019

Z Argov

12

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1 November 2019

C R Greenberg

13

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1 November 2019

K Wrogemann

14

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1 November 2019

T Bertorini

15

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1 November 2019

H H Goebel

16

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1 November 2019

R Bashir

18

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1 November 2019

K M Bushby

19

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1 November 2019

publication date

1 December 2000

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1 November 2019

Neuromuscular Disorders

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1 November 2019

10

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1 November 2019

553-559

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1 November 2019

8

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1 November 2019

Making sense of the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Distal muscular dystrophy of Miyoshi type. Report of two cases and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiplex Western blotting system for the analysis of muscular dystrophy proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The "rescue" of dystrophin synthesis in boys with Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Myoferlin, a candidate gene and potential modifier of muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The C2 domain calcium-binding motif: structural and functional diversity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Calpain translocation during muscle fiber necrosis and regeneration in dystrophin-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Cellular differences in the regeneration of murine skeletal muscle: a quantitative histological study in SJL/J and BALB/c mice

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900143-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(00)00143-7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11053681%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11053681%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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