Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic - Wikidata - awgldk - TriplyDB

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

http://www.wikidata.org/entity/Q35227523

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Limb-girdle Muscular Dystrophies in India: A Review.Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.The Growing Family of Limb-Girdle Muscular Dystrophies: Old and Newly Identified Members.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Bioinformatic characterization of the Anoctamin Superfamily of Ca2+-activated ion channels and lipid scramblases.Decreased Aerobic Capacity in ANO5-Muscular Dystrophy

P2860

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P2860

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

http://www.wikidata.org/entity/Q35227523

description

2014 nî lūn-bûn

@nan

2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@en

type

label

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@ast

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@en

prefLabel

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@ast

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@en

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P1476

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

@en

P2093

Daniela Skálová

http://www.w3.org/2001/XMLSchema#string

Hana Ošlejšková

http://www.w3.org/2001/XMLSchema#string

Jana Haberlová

http://www.w3.org/2001/XMLSchema#string

Jana Zídková

http://www.w3.org/2001/XMLSchema#string

Josef Zámečník

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Kristýna Stehlíková

http://www.w3.org/2001/XMLSchema#string

Lenka Fajkusová

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Lenka Mrázová

http://www.w3.org/2001/XMLSchema#string

Markéta Hermanová

http://www.w3.org/2001/XMLSchema#string

Nina Dvořáčková

http://www.w3.org/2001/XMLSchema#string

P2860

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

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

The clinical spectrum of sarcoglycanopathies

ANO2 is the cilial calcium-activated chloride channel that may mediate olfactory amplification.

TMEM16A confers receptor-activated calcium-dependent chloride conductance

LGMD2I in a North American population

Expression cloning of TMEM16A as a calcium-activated chloride channel subunit.

Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

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s12883-014-0154-7

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scholarly article

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10.1186/S12883-014-0154-7

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14

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2014-08-19T00:00:00Z

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