| scholarly article | Q13442814 |
| P2093 | author name string | Susan C Brown | |
| Steve J Winder | |||
| P2860 | cites work | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 | Q24291905 |
| 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 | ||
| Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice | Q24602606 | ||
| POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome | Q24674153 | ||
| Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy | Q28138251 | ||
| 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 | ||
| Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
| Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency | Q28258826 | ||
| Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy | Q28303419 | ||
| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation | Q28478647 | ||
| Stretch-induced activation of AMP kinase in the lung requires dystroglycan | Q28569710 | ||
| Dystroglycan versatility in cell adhesion: a tale of multiple motifs | Q30156956 | ||
| The proteasomal inhibitor MG132 prevents muscular dystrophy in zebrafish | Q34087155 | ||
| An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. | Q34091913 | ||
| An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene | Q34406665 | ||
| New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation | Q34651643 | ||
| A dystroglycan/plectin scaffold mediates mechanical pathway bifurcation in lung epithelial cells | Q34675938 | ||
| Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies | Q34766986 | ||
| A dystroglycan mutation associated with limb-girdle muscular dystrophy. | Q34767085 | ||
| Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. | Q35056189 | ||
| Defective glycosylation in congenital muscular dystrophies | Q35691384 | ||
| Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. | Q35880856 | ||
| Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages | Q36118063 | ||
| Dystroglycan: from biosynthesis to pathogenesis of human disease. | Q36367346 | ||
| Overexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice | Q37139061 | ||
| Loss of alpha-dystroglycan laminin binding in epithelium-derived cancers is caused by silencing of LARGE. | Q37160880 | ||
| Inhibition of apoptosis improves outcome in a model of congenital muscular dystrophy | Q37625936 | ||
| Dystroglycanopathies: coming into focus | Q37852376 | ||
| Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency | Q37934214 | ||
| Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies | Q38584853 | ||
| Expression of beta-dystroglycan is reduced or absent in many human carcinomas | Q39921521 | ||
| Anomalous dystroglycan in carcinoma cell lines. | Q40842397 | ||
| Effect on intraocular pressure in patients receiving unilateral intravitreal anti-vascular endothelial growth factor injections | Q45153633 | ||
| Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. | Q51894973 | ||
| Proteasome inhibition improves the muscle of laminin α2 chain-deficient mice. | Q54401460 | ||
| P433 | issue | 7 | |
| P921 | main subject | Netherlands | Q55 |
| workshop | Q27556165 | ||
| P304 | page(s) | 659-668 | |
| P577 | publication date | 2012-03-19 | |
| P1433 | published in | Neuromuscular Disorders | Q1981326 |
| P1476 | title | Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The Netherlands | |
| P478 | volume | 22 |
| Q39534750 | Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations |
| Q36581125 | ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies |
| Q35787376 | ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases |
| Q38098929 | Neuromuscular disorders in zebrafish: state of the art and future perspectives. |
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