Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
about
The potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyO-Mannosylation and human diseaseCongenital muscular dystrophy: from muscle to brainGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Mutations in POMGNT1 cause non-syndromic retinitis pigmentosaCOL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humansBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.Using whole-exome sequencing to identify inherited causes of autism.Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseRespiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Autism spectrum disorders: the quest for genetic syndromes.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Glycan susceptibility factors in autism spectrum disorders.Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
P2860
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P2860
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@en
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@nl
type
label
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@en
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@nl
prefLabel
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@en
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@nl
P2093
P50
P1433
P1476
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
@en
P2093
Axel Bohring
Barbara Oehl-Jaschkowitz
Claudia Gross
Ghiat M Shamdeen
Goekhan Uyanik
Jürgen Winkler
Ludwig Aigner
Maggie C Walter
Monika Cohen
P2888
P304
P356
10.1007/S10048-007-0096-Y
P577
2007-09-29T00:00:00Z