about
Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activityAssignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.Visual impairment in the absence of dystroglycanA developmental and genetic classification for malformations of cortical development: update 2012Malformations of cortical development: genetic mechanisms and diagnostic approachSyndromes with lissencephaly.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Nuclear envelope in nuclear positioning and cell migrationA novel pattern of oculocerebral malformation.Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain diseaseDystroglycan on radial glia end feet is required for pial basement membrane integrity and columnar organization of the developing cerebral cortex.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyRespiratory involvement in inherited primary muscle conditions.The congenital muscular dystrophies: recent advances and molecular insights.Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease.Consensus statement on standard of care for congenital muscular dystrophies.Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.Malformations of cortical development
P2860
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P2860
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年学术文章
@wuu
1989年学术文章
@zh
1989年学术文章
@zh-cn
1989年学术文章
@zh-hans
1989年学术文章
@zh-my
1989年学术文章
@zh-sg
1989年學術文章
@yue
1989年學術文章
@zh-hant
name
Muscle-eye-brain disease (MEB)
@en
type
label
Muscle-eye-brain disease (MEB)
@en
prefLabel
Muscle-eye-brain disease (MEB)
@en
P2093
P1476
Muscle-eye-brain disease (MEB)
@en
P2093
P Santavuori
P304
P577
1989-01-01T00:00:00Z