Calpain-3 mutations in Turkey (Q58052166)

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English	Calpain-3 mutations in Turkey	No description defined

Statements

instance of

scholarly article

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title

Calpain-3 mutations in Turkey (English)

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author

Vincenzo Nigro

object named as

Vincenzo Nigro

series ordinal

10

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Haluk Topaloglu

series ordinal

11

object named as

Haluk Topaloglu

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author name string

Burcu Balci

series ordinal

1

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Stefania Aurino

series ordinal

2

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Göknur Haliloglu

series ordinal

3

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Beril Talim

series ordinal

4

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Sevim Erdem

series ordinal

5

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Zuhal Akcören

series ordinal

6

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Ersin Tan

series ordinal

7

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Melda Caglar

series ordinal

8

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Isabelle Richard

series ordinal

9

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Pervin Dincer

series ordinal

12

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publication date

13 January 2006

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published in

European Journal of Pediatrics

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volume

165

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issue

5

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page(s)

293-298

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cites work

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1007%2FS00431-005-0046-3

retrieved

21 January 2018

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Manual muscle testing

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calpain-3 Deficiency Causes a Mild Muscular Dystrophy in Childhood

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

How neutral are synonymous codon mutations?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular bases of autosomal recessive limb-girdle muscular dystrophies.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Calpainopathy-a survey of mutations and polymorphisms

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 10 autosomal recessive limb-girdle muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/16411092

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00431-005-0046-3

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PubMed publication ID

16411092

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