Keywords: Muscular dystrophy; Fukutin related protein; Muscle regeneration; Dystroglycanopathy;
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair
Keywords: Protein-O-mannosyl kinase; POMK; Dystroglycanopathy; Limb-girdle muscular dystrophy-dystroglycanopathy type 12 C; MDDGC12; LGMD12C; Muscular dystrophy;
A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy
Keywords: Dystroglycanopathy; Alpha-dystroglycan; TMEM5; NGS;
Uniparental disomy unveils a novel recessive mutation in POMT2
Keywords: POMT2; LGMD; α-dystroglycan; Dystroglycanopathy; Uniparental disomy;
In-silico structural analysis of E509K mutation in LARGE and T192M mutation in Alpha Dystroglycan in the inhibition of glycosylation of Alpha Dystroglycan by LARGE
Keywords: DMD; Duchenne Muscular Dystrophy; α-DG; Alpha Dystroglycan; DAPC; Dystrophin Associated Protein Complex; MDDGC9; Muscular Dystrophy Dystroglycanopathy type C9; OMIM; Online Mendelian Inheritance in Man; EC; Enzyme Commission number; MDDGB6; Muscular Dyst
Small molecules enhance functional O-mannosylation of Alpha-dystroglycan
Keywords: Dystroglycan; Dystroglycanopathy; O-Mannosylation; Cell-based high-throughput screening;
A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
Keywords: aDG; alpha dystroglycan; DGC; dystrophin-glycoprotein complex; DAG; dystroglycan; LGMD2I; limb-girdle muscular dystrophy type 2I; FKRP; fukutin-related protein; MDC1C; congenital muscular dystrophy type 1C; WGA; wheat germ agglutinin; HRP; horseradish per
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Keywords: POMT1; Protein O-mannosylation; Dystroglycanopathy; Walker-Warburg syndrome; Congenital muscular dystrophy; Limb girdle muscular dystrophy;
160Â kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome
Keywords: ISPD; Walker-Warburg syndrome; Dystroglycanopathy; Hydrocephalus; Seizures; Cerebellar hypoplasia; Corpus callosum agenesis;
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
Keywords: CDG; congenital disorder of glycosylation; DPM; dolichol-P-mannose synthase; DLO; dolichol-linked oligosaccharides; ER; endoplasmic reticulum; CK; creatine kinase; MRI; magnetic resonance imaging; EEG; electroencephalogram; CGH; comparative genomic hybrid
Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy
Keywords: Basement membrane; Dystroglycanopathy; Retina; Laminin; Extracellular matrix; POMGnT1
Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies
Keywords: Fukutin; Fukuyama muscular dystrophy; Monoclonal antibody; Dystroglycan; Dystroglycanopathy; Golgi; Phage-displayed peptide library; Epitope mapping
The inside and out of dystroglycan post-translational modification
Keywords: Dystroglycan; Glycosylation; Dystroglycanopathy; Laminin; Signalling; Adhesion;
Protein O-mannosylation in animal development and physiology: From human disorders to Drosophila phenotypes
Keywords: Protein O-mannosylation; Dystroglycan; Dystroglycanopathy; Muscular dystrophy; Drosophila glycosylation
Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation
Keywords: α-Dystroglycan; Dystroglycanopathy; Fukutin (FKTN); Limb-girdle muscular dystrophy (LGMD); Fukuyama congenital muscular dystrophy (FCMD);
Genes required for functional glycosylation of dystroglycan are conserved in zebrafish
Keywords: Dystroglycan; Glycosylation; Zebrafish; Comparative mapping; Glycosyltransferase; Dystroglycanopathy; Muscular dystrophy