| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Francesco Muntoni | |
| A Reghan Foley | |||
| Caroline Godfrey | |||
| Emma Clement | |||
| P433 | issue | 3 | |
| P1104 | number of pages | 8 | |
| P304 | page(s) | 278-285 | |
| P577 | publication date | 2011-03-11 | |
| P1433 | published in | Current Opinion in Genetics & Development | Q13505684 |
| P1476 | title | Dystroglycanopathies: coming into focus | |
| P478 | volume | 21 |
| Q37555754 | 212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015. |
| Q28485391 | A Method to Produce and Purify Full-Length Recombinant Alpha Dystroglycan: Analysis of N- and O-Linked Monosaccharide Composition in CHO Cells with or without LARGE Overexpression |
| Q27322890 | A comparative study of N-glycolylneuraminic acid (Neu5Gc) and cytotoxic T cell (CT) carbohydrate expression in normal and dystrophin-deficient dog and human skeletal muscle |
| Q35152903 | A glycogene mutation map for discovery of diseases of glycosylation |
| Q59134959 | A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies |
| Q40255607 | A longitudinal study on BIO14.6 hamsters with dilated cardiomyopathy: micro-echocardiographic evaluation. |
| Q90362813 | A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan |
| Q30667471 | A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses |
| Q40117009 | A novel case of 'muscle eye brain disease' in an immigrant family in India |
| Q37646939 | A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. |
| Q37427210 | A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A. |
| Q35097359 | A role for Galgt1 in skeletal muscle regeneration |
| Q47956367 | A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome |
| Q35841883 | Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan |
| Q36100107 | Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT) |
| Q36720784 | Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy |
| Q58763023 | Alterations of GABAergic Neuron-Associated Extracellular Matrix and Synaptic Responses in -Heterozygous Mice Subjected to Prenatal Stress |
| Q35084401 | An aberrant sugar modification of BACE1 blocks its lysosomal targeting in Alzheimer's disease |
| Q35480081 | An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients |
| Q37711819 | B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations |
| Q39453819 | B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. |
| Q48427255 | Behavioral Responses in Animal Model of Congenital Muscular Dystrophy 1D. |
| Q37396892 | Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly |
| Q60708089 | Biochemical and Functional Interplay Between Ion Channels and the Components of the Dystrophin-Associated Glycoprotein Complex |
| Q37944530 | Cell-matrix interactions in muscle disease |
| Q57642759 | Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I |
| Q33930289 | Comparative Analysis of Protein Glycosylation Pathways in Humans and the Fungal Pathogen Candida albicans |
| Q48357459 | Comparison of brain MRI findings with language and motor function in the dystroglycanopathies |
| Q33844672 | Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1. |
| Q92770935 | Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene |
| Q52088286 | Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. |
| Q41933116 | DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. |
| Q37572562 | Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry |
| Q26801397 | Decoding the Matrix: Instructive Roles of Proteoglycan Receptors |
| Q42070882 | Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse. |
| Q39616810 | Density-dependent lectin-glycan interactions as a paradigm for conditional regulation by posttranslational modifications |
| Q64044001 | Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness |
| Q30767612 | Diagnostic approach to the congenital muscular dystrophies |
| Q37609175 | Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglycan and forms of muscular dystrophy |
| Q42127428 | Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands |
| Q24301093 | Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE |
| Q64232974 | Dystroglycan is a scaffold for extracellular axon guidance decisions |
| Q33606977 | Dystroglycan mediates homeostatic synaptic plasticity at GABAergic synapses |
| Q35709549 | Ectopic clustering of Cajal-Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy. |
| Q33633266 | Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene |
| Q93160656 | Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I |
| Q39534750 | Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations |
| Q24302249 | Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues |
| Q83225161 | Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice |
| Q36439344 | Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome |
| Q37015841 | Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease |
| Q34873693 | Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies |
| Q35062311 | Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression |
| Q41046302 | Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1. |
| Q34478370 | Genomic variants and variations in malformations of cortical development |
| Q36806841 | Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation |
| Q36033160 | Glycosylation of α-dystroglycan: O-mannosylation influences the subsequent addition of GalNAc by UDP-GalNAc polypeptide N-acetylgalactosaminyltransferases |
| Q42044259 | HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect |
| Q36581125 | ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies |
| Q24316024 | ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome |
| Q36451494 | Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly |
| Q28535211 | Identification of new dystroglycan complexes in skeletal muscle |
| Q54957953 | Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy. |
| Q35400504 | Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype |
| Q42125324 | LARGE enzyme activity deciphered: a new therapeutic target for muscular dystrophies |
| Q60044592 | LARGE expression in different types of muscular dystrophies other than dystroglycanopathy |
| Q28591175 | LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE |
| Q37472546 | LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. |
| Q34223029 | Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection. |
| Q35967522 | Loss of cell-surface laminin anchoring promotes tumor growth and is associated with poor clinical outcomes |
| Q92970985 | MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement |
| Q55555004 | Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. |
| Q37421355 | Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins |
| Q36731388 | Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. |
| Q24611333 | Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy |
| Q36559993 | Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGE(myd) mice |
| Q47168266 | Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy |
| Q86291937 | Muscular dystrophies |
| Q91594164 | Muscular dystrophies |
| Q51130563 | Muscular dystrophy meets protein biochemistry, the mother of invention. |
| Q24321692 | Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan |
| Q24323215 | Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities |
| Q28115096 | Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa |
| Q35877816 | Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome |
| Q36900455 | N-Glycolylneuraminic acid deficiency worsens cardiac and skeletal muscle pathophysiology in α-sarcoglycan-deficient mice |
| Q31105806 | NAD+ biosynthesis ameliorates a zebrafish model of muscular dystrophy |
| Q92480745 | NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy |
| Q26830686 | Neurological aspects of human glycosylation disorders |
| Q38098929 | Neuromuscular disorders in zebrafish: state of the art and future perspectives. |
| Q46036955 | Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. |
| Q38647928 | Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing |
| Q37421312 | O-mannosylation of cadherins |
| Q38563300 | Pathoproteomic profiling of the skeletal muscle matrisome in dystrophinopathy associated myofibrosis |
| Q88238536 | Perspectives on Glycosylation and Its Congenital Disorders |
| Q28256516 | Prevalence of congenital muscular dystrophy in Italy: a population study |
| Q34788338 | Probing the stability of the "naked" mucin-like domain of human α-dystroglycan |
| Q42279890 | Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. |
| Q37021623 | Prospect of gene therapy for cardiomyopathy in hereditary muscular dystrophy |
| Q46448834 | Protein O-Linked Mannose β-1,4-N-Acetylglucosaminyl-transferase 2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of α-Dystroglycan |
| Q37421256 | Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion |
| Q47372357 | Protein O-mannosyltransferases affect sensory axon wiring and dynamic chirality of body posture in the Drosophila embryo |
| Q50207576 | Quantification, 2DE analysis and identification of enriched glycosylated proteins from mouse muscles: Difficulties and alternatives |
| Q37304803 | Role of dystroglycan in limiting contraction-induced injury to the sarcomeric cytoskeleton of mature skeletal muscle. |
| Q47714263 | Sexually dimorphic skeletal muscle and cardiac dysfunction in a mouse model of limb girdle muscular dystrophy 2i. |
| Q47874181 | Skeletal muscle contractile properties in a novel murine model for limb girdle muscular dystrophy 2i. |
| Q38186249 | Solving glycosylation disorders: fundamental approaches reveal complicated pathways |
| Q31121747 | Structural basis of laminin binding to the LARGE glycans on dystroglycan |
| Q47552797 | Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. |
| Q38029277 | The ever-expanding spectrum of congenital muscular dystrophies |
| Q60300741 | The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy |
| Q40975689 | Tmem2 regulates cell-matrix interactions that are essential for muscle fiber attachment |
| Q27324284 | Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i |
| Q48206172 | Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. |
| Q35106455 | Urologic and gastrointestinal symptoms in the dystroglycanopathies |
| Q38255744 | What do mouse models of muscular dystrophy tell us about the DAPC and its components? |
| Q28592706 | Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2 |
| Q36359190 | Zebrafish models flex their muscles to shed light on muscular dystrophies |
| Q53477530 | [Potential of the zebrafish model to study congenital muscular dystrophies]. |
Search more.