B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

scientific article published on 02 October 2013

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations is …
instance of (P31):
scholarly articleQ13442814
case reportQ2782326

External links are
P356DOI10.1038/EJHG.2013.223
P932PMC publication ID3992579
P698PubMed publication ID24084573

P2093author name stringAnders Oldfors
Niklas Darin
Carola Hedberg
P2860cites workMutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanQ24321692
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanQ28249364
Brain involvement in muscular dystrophies with defective dystroglycan glycosylationQ33391488
Dystroglycan: important player in skeletal muscle and beyondQ36051591
Abnormal glycosylation of dystroglycan in human genetic diseaseQ37524912
Dystroglycanopathies: coming into focusQ37852376
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titinQ38325462
P433issue5
P921main subjectcongenital disorderQ727096
congenital muscular dystrophyQ1321884
P304page(s)707-710
P577publication date2013-10-02
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleB3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
P478volume22

Reverse relations

cites work (P2860)
Q30667471A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
Q47102006B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Q38287439Cerebellar cysts in children: a pattern recognition approach
Q41642554Differentiation-related glycan epitopes identify discrete domains of the muscle glycocalyx
Q54967405Elevated urinary excretion of free pyridinoline in Friesian horses suggests a breed-specific increase in collagen degradation.
Q39051467Myopathology in the times of modern genetics
Q91754123Role of microtubule-associated protein 6 glycosylated with Gal-(β-1,3)-GalNAc in Parkinson's disease
Q46049341Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation

Search more.