| scholarly article | Q13442814 |
| P50 | author | Neveen A. Soliman | Q42163349 |
| Nour ElKhateeb | Q52088764 | ||
| Daniela A Braun | Q52088766 | ||
| P2093 | author name string | Friedhelm Hildebrandt | |
| Sahar N Saleem | |||
| Marwa M Nabhan | |||
| Sungho Eun | |||
| Heon YungGee | |||
| P2860 | cites work | Walker-Warburg syndrome | Q21203042 |
| Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 | ||
| Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity | Q24303491 | ||
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 | ||
| Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
| Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice | Q28590908 | ||
| O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. | Q34090655 | ||
| New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation | Q34651643 | ||
| Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression | Q35062311 | ||
| Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan | Q35841883 | ||
| Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus | Q36156574 | ||
| Dystroglycan: from biosynthesis to pathogenesis of human disease. | Q36367346 | ||
| Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects | Q37426320 | ||
| A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. | Q37646939 | ||
| Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies | Q37678462 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Diagnostic criteria for Walker-Warburg syndrome | Q38221850 | ||
| Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt | Q39476852 | ||
| ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome | Q40823479 | ||
| HomozygosityMapper--an interactive approach to homozygosity mapping | Q41904211 | ||
| POMT2 mutation in a patient with 'MEB-like' phenotype. | Q41919601 | ||
| Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies | Q42524150 | ||
| Prenatal diagnosis of Walker-Warburg syndrome in three sibs | Q48505335 | ||
| Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies | Q48666364 | ||
| Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy | Q71482663 | ||
| The 2015 version of the gene table of monogenic neuromuscular disorders (nuclear genome) | Q86606576 | ||
| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | sibling | Q31184 |
| P304 | page(s) | 2697-2702 | |
| P577 | publication date | 2017-08-17 | |
| P1433 | published in | American Journal of Medical Genetics | Q4744254 |
| P1476 | title | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. | |
| P478 | volume | 173 |
| Q91724066 | Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex | cites work | P2860 |
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