Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies (Q39040304)

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scientific article published on April 2011

Language	Label	Description	Also known as
English	Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies	scientific article published on April 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 September 2017

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies (English)

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Europe PubMed Central

PubMed publication ID

8 September 2017

congenital disorder

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9

object named as

Faiza Fakhfakh

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8 September 2017

author name string

Ikhlass Hadj Salem

1

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Fatma Kamoun

2

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Nacim Louhichi

3

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8 September 2017

Souad Rouis

4

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Mariam Mziou

5

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8 September 2017

Nourhene Fendri-Kriaa

6

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8 September 2017

Fatma Makni-Ayadi

7

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Chahnez Triki

8

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publication date

1 April 2011

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8 September 2017

Bioscience Reports

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31

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125-135

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8 September 2017

The congenital muscular dystrophies in 2004: a century of exciting progress

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https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Limb-girdle muscular dystrophies--from genetics to molecular pathology

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

How to go about diagnosing and managing the limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies

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https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Titin and nebulin: protein rulers in muscle?

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https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Muscular dystrophies due to glycosylation defects

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https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries

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https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Gene expression profiling in limb-girdle muscular dystrophy 2A

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Alternative splicing of Cyr61 is regulated by hypoxia and significantly changed in breast cancer

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

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/10.1042%2FBSR20100026

21 January 2018

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.

1 reference

https://api.crossref.org/works/10.1042%2FBSR20100026

21 January 2018

Identifiers

10.1042/BSR20100026

1 reference

Europe PubMed Central

PubMed publication ID

8 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 September 2017

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