| case report | Q2782326 |
| scholarly article | Q13442814 |
| P2093 | author name string | Sedat Işıkay | |
| Akif Şirikçi | |||
| P2860 | cites work | Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix | Q28296676 |
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing | Q38647928 | ||
| Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid. | Q38924048 | ||
| Golgi phosphoprotein 3 mediates the Golgi localization and function of protein O-linked mannose β-1,2-N-acetlyglucosaminyltransferase 1. | Q39886001 | ||
| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies | Q42524150 | ||
| Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies | Q48348730 | ||
| Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein | Q48395145 | ||
| Muscular dystrophies | Q86291937 | ||
| P433 | issue | 4 | |
| P921 | main subject | congenital muscular dystrophy | Q1321884 |
| P304 | page(s) | 462-464 | |
| P577 | publication date | 2018-10-01 | |
| P1433 | published in | Journal of Pediatric Neurosciences | Q6295723 |
| P1476 | title | Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene | |
| P478 | volume | 13 |
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