Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
about
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycanMutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycanMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanA comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityPost-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localizationFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardationFounder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish familiesEthnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastDeficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementGenetic Engineering of Dystroglycan in Animal Models of Muscular DystrophyA developmental and genetic classification for malformations of cortical development: update 2012Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathyCongenital muscular dystrophy: from muscle to brainMutations in POMGNT1 cause non-syndromic retinitis pigmentosaCongenital muscular dystrophies: a brief reviewPrevalence of congenital muscular dystrophy in Italy: a population studyInsights from molecular dynamics simulations: structural basis for the V567D mutation-induced instability of zebrafish alpha-dystroglycan and comparison with the murine modelBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.Using whole-exome sequencing to identify inherited causes of autism.Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Fer kinase regulates cell migration through α-dystroglycan glycosylationPOMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsA nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.Diagnostic approach to the congenital muscular dystrophies.The genetics of cerebellar malformationsLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleCompound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.22q12.3 microduplication overlapping the LARGE gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder.New dystrophin/dystroglycan interactors control neuron behavior in Drosophila eye.Muscle-Eye-Brain disease.Glycoproteomic characterization of recombinant mouse α-dystroglycan.GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophyA new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oCongenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathiesA dystroglycan mutation associated with limb-girdle muscular dystrophy.
P2860
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P2860
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Refining genotype phenotype co ...... glycosylation of dystroglycan
@ast
Refining genotype phenotype co ...... glycosylation of dystroglycan
@en
Refining genotype phenotype co ...... glycosylation of dystroglycan
@nl
type
label
Refining genotype phenotype co ...... glycosylation of dystroglycan
@ast
Refining genotype phenotype co ...... glycosylation of dystroglycan
@en
Refining genotype phenotype co ...... glycosylation of dystroglycan
@nl
prefLabel
Refining genotype phenotype co ...... glycosylation of dystroglycan
@ast
Refining genotype phenotype co ...... glycosylation of dystroglycan
@en
Refining genotype phenotype co ...... glycosylation of dystroglycan
@nl
P2093
P50
P3181
P356
P1433
P1476
Refining genotype phenotype co ...... glycosylation of dystroglycan
@en
P2093
Adnan Y Manzur
Beril Talim
Caroline A Sewry
Caroline Godfrey
Emma Clement
Janine Smith
Kate Bushby
Maria Kinali
Rachael Mein
P304
P3181
P356
10.1093/BRAIN/AWM212
P407
P50
P577
2007-10-01T00:00:00Z