| P50 | author | Ayad Eddaoudi | Q42766161 |
| P2093 | author name string | Silvia Torelli | |
| | Francesco Muntoni | |
| | Caroline A Sewry | |
| | Rahul Phadke | |
| | Lucy Feng | |
| | Maggie C Walter | |
| | Peter Schneiderat | |
| | Elizabeth Stevens | |
| P2860 | cites work | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 |
| | Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. | Q51766397 |
| | Inhibition of dystroglycan binding to laminin disrupts the PI3K/AKT pathway and survival signaling in muscle cells. | Q52548027 |
| | Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C | Q77346768 |
| | Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome | Q36439344 |
| | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly | Q36451494 |
| | ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies | Q36581125 |
| | Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | Q36731388 |
| | Flow cytometry analysis: a quantitative method for collagen VI deficiency screening | Q36852826 |
| | Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry | Q37572562 |
| | Dystroglycanopathies: coming into focus | Q37852376 |
| | Dystroglycan in skin and cutaneous cells: beta-subunit is shed from the cell surface | Q40549682 |
| | Expression of the dystrophin gene in cultured fibroblasts | Q41559392 |
| | DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. | Q41933116 |
| | Binding of the G domains of laminin alpha1 and alpha2 chains and perlecan to heparin, sulfatides, alpha-dystroglycan and several extracellular matrix proteins | Q42001102 |
| | ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan | Q44764205 |
| | Molecular heterogeneity in fetal forms of type II lissencephaly. | Q48142018 |
| | Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies | Q48348730 |
| | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan | Q24294992 |
| | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome | Q24316024 |
| | Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan | Q24316123 |
| | An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy | Q24320265 |
| | Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan | Q24321692 |
| | A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity | Q24321993 |
| | Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan | Q24535942 |
| | Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome | Q24561808 |
| | Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies | Q24651944 |
| | POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 |
| | A stoichiometric complex of neurexins and dystroglycan in brain | Q26269938 |
| | Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan | Q28206027 |
| | Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects | Q28236824 |
| | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 |
| | Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix | Q28296676 |
| | Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation | Q28478647 |
| | Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation | Q28507319 |
| | Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse | Q28589172 |
| | Brain alpha-dystroglycan displays unique glycoepitopes and preferential binding to laminin-10/11 | Q28589413 |
| | Distribution of dystroglycan in normal adult mouse tissues | Q28590830 |
| | Dystroglycan organizes axon guidance cue localization and axonal pathfinding | Q28593913 |
| | Membrane organization of the dystrophin-glycoprotein complex | Q29615149 |
| | Multifunctional TH1 cells define a correlate of vaccine-mediated protection against Leishmania major | Q29619125 |
| | Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I | Q33820866 |
| | Analysis of heparin, alpha-dystroglycan and sulfatide binding to the G domain of the laminin alpha1 chain by site-directed mutagenesis | Q33855301 |
| | Correlation analysis of intracellular and secreted cytokines via the generalized integrated mean fluorescence intensity. | Q34091604 |
| | The complexities of dystroglycan | Q34134645 |
| | A dystroglycan mutation associated with limb-girdle muscular dystrophy. | Q34767085 |
| | Old World arenavirus infection interferes with the expression of functional alpha-dystroglycan in the host cell | Q36095715 |
| | A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. | Q36232550 |
| | Non-muscle alpha-dystroglycan is involved in epithelial development | Q36235753 |
| | Dystroglycan: from biosynthesis to pathogenesis of human disease. | Q36367346 |
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | glycosylation | Q898365 |
| | flow cytometry | Q1141429 |
| P304 | page(s) | e68958 | |
| P577 | publication date | 2013-07-22 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies | |
| P478 | volume | 8 | |