scholarly article | Q13442814 |
case report | Q2782326 |
P2093 | author name string | Anders Oldfors | |
Niklas Darin | |||
Carola Hedberg | |||
P2860 | cites work | Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan | Q24321692 |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan | Q28249364 | ||
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation | Q33391488 | ||
Dystroglycan: important player in skeletal muscle and beyond | Q36051591 | ||
Abnormal glycosylation of dystroglycan in human genetic disease | Q37524912 | ||
Dystroglycanopathies: coming into focus | Q37852376 | ||
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin | Q38325462 | ||
P433 | issue | 5 | |
P921 | main subject | congenital disorder | Q727096 |
congenital muscular dystrophy | Q1321884 | ||
P304 | page(s) | 707-710 | |
P577 | publication date | 2013-10-02 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations | |
P478 | volume | 22 |
Q30667471 | A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses |
Q47102006 | B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. |
Q38287439 | Cerebellar cysts in children: a pattern recognition approach |
Q41642554 | Differentiation-related glycan epitopes identify discrete domains of the muscle glycocalyx |
Q54967405 | Elevated urinary excretion of free pyridinoline in Friesian horses suggests a breed-specific increase in collagen degradation. |
Q39051467 | Myopathology in the times of modern genetics |
Q91754123 | Role of microtubule-associated protein 6 glycosylated with Gal-(β-1,3)-GalNAc in Parkinson's disease |
Q46049341 | Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation |
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