Congenital muscular dystrophy: from muscle to brain - Wikidata - wikimedia - TriplyDB

Congenital muscular dystrophy: from muscle to brain

Congenital muscular dystrophy: from muscle to brain

http://www.wikidata.org/entity/Q27023097

about

Recent advancements in understanding mammalian O-mannosylation.Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy.

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Congenital muscular dystrophy: from muscle to brain

http://www.wikidata.org/entity/Q27023097

description

2016 nî lūn-bûn

@nan

2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

name

Congenital muscular dystrophy: from muscle to brain

@ast

Congenital muscular dystrophy: from muscle to brain

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Congenital muscular dystrophy: from muscle to brain

@nl

type

label

Congenital muscular dystrophy: from muscle to brain

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Congenital muscular dystrophy: from muscle to brain

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Congenital muscular dystrophy: from muscle to brain

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prefLabel

Congenital muscular dystrophy: from muscle to brain

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Congenital muscular dystrophy: from muscle to brain

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Congenital muscular dystrophy: from muscle to brain

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S13052-016-0289-9

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Italian Journal of Paediatrics

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Congenital muscular dystrophy: from muscle to brain

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Andrea D Praticò

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Enrico Parano

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Giovanna Vitaliti

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Giovanni Corsello

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Martino Ruggieri

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Raffaele Falsaperla

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Renata Rizzo

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Creative Commons Attribution 4.0 International

P2860

Walker-Warburg syndrome

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Prevalence of congenital muscular dystrophy in Italy: a population study

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s13052-016-0289-9

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10.1186/S13052-016-0289-9

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muscular dystrophy

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