POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
about
The Dystrophin Complex: Structure, Function, and Implications for TherapyThe EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesAbnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice.Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.Milder forms of muscular dystrophy associated with POMGNT2 mutations.Structure of protein O-mannose kinase reveals a unique active site architecture.Prenatal muscle development in a mouse model for the secondary dystroglycanopathiesRecent advancements in understanding mammalian O-mannosylation.3D structural analysis of protein O-mannosyl kinase, POMK, a causative gene product of dystroglycanopathy.Protein O-mannosyltransferases affect sensory axon wiring and dynamic chirality of body posture in the Drosophila embryo.The evolution of cortical development: the synapsid-diapsid divergence.POMK 6-phosphorylates Mannose in GalNAc-GlcNAc-Man-DAG1A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.[Potential of the zebrafish model to study congenital muscular dystrophies].
P2860
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P2860
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին 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
POMK mutations disrupt muscle ...... of neuromuscular presentations
@ast
POMK mutations disrupt muscle ...... of neuromuscular presentations
@en
type
label
POMK mutations disrupt muscle ...... of neuromuscular presentations
@ast
POMK mutations disrupt muscle ...... of neuromuscular presentations
@en
prefLabel
POMK mutations disrupt muscle ...... of neuromuscular presentations
@ast
POMK mutations disrupt muscle ...... of neuromuscular presentations
@en
P2093
P2860
P50
P356
P1476
POMK mutations disrupt muscle ...... of neuromuscular presentations
@en
P2093
Anete Rozkalne
Anuradha Balasubramanian
Chiara Pantaleoni
Christine M Sunu
Christopher A Walsh
Heather L Pond
Peter B Kang
Stefania Di Costanzo
Vandana A Gupta
P2860
P304
P356
10.1093/HMG/DDU296
P577
2014-06-11T00:00:00Z