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01/2012
Alpha dystroglycanopathies are heterogeneous group of disorders both phenotypically and genetically. A subgroup of these patients has characteristic brain... 
Alpha dystroglycanopathy | polymicrogyria | congenital muscular dystrophy | cerebellar cysts | pontine hypoplasi | brain malformations
Web Resource
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 02/2019, Volume 23, Issue 2, pp. 811 - 818
Journal Article
Glycobiology, ISSN 0959-6658, 2/2012, Volume 22, Issue 2, pp. 235 - 247
Genetic defects in like-glycosyltransferase (LARGE) cause congenital muscular dystrophy with central nervous system manifestations. The underlying molecular... 
like-glycosyltransferase | congenital muscular dystrophy | dystroglycan | dystroglycanopathy | neural stem cells
Journal Article
Journal of neuropathology and experimental neurology, ISSN 0022-3069, 5/2014, Volume 73, Issue 5, pp. 425 - 441
Dystroglycanopathies are a subtype of congenital muscular dystrophy (CMD) of varying severity that can affect the brain and eyes, ranging from Walker-Warburg... 
Dystroglycanopathy | Agyria | Polymicrogyria | Congenital muscular dystrophy | Neuropathology | LARGE
Journal Article
TRENDS IN GLYCOSCIENCE AND GLYCOTECHNOLOGY, ISSN 0915-7352, 07/2019, Volume 31, Issue 181, pp. SE76 - SE77
Dystroglycanopathy (DGpathy) is a group of muscular dystrophies that is caused by abnormalities in the sugar chains on dystroglycan. We contributed to the... 
pathogenesis | FKRP | therapeutic strategy | RESCUE | dystroglycanopathy | BIOCHEMISTRY & MOLECULAR BIOLOGY | dystroglycan | GLYCOSYLATION | ISPD | FKTN
Journal Article
Skeletal muscle, ISSN 2044-5040, 08/2019, Volume 9, Issue 1, pp. 21 - 23
Secondary dystroglycanopathies are muscular dystrophies that result from mutations in genes that participate in Dystroglycan glycosylation. Glycosylation of... 
Dystroglycanopathy | NAD | Zebrafish | FKRP | Neuromuscular junction
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 31, pp. 12186 - 12198
alpha-Dystroglycan (-DG) is a highly glycosylated cell-surface laminin receptor. Defects in the O-mannosyl glycan of an -DG with laminin-binding activity can... 
ALPHA-DYSTROGLYCAN | FKRP | dystroglycanopathy | protein glycosylation | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCULAR-DYSTROPHY | glycosylation | enzyme catalysis | dystroglycan | muscular dystrophy | glycosyltransferase | CDP-glycerol | REQUIRES | RIBITOL-PHOSPHATE | ISPD | fukutin | glycobiology | MAMMALS
Journal Article
The FEBS journal, ISSN 1742-464X, 12/2013, Volume 280, Issue 23
Mammalian muscle cell differentiation is a complex process of multiple steps for which many of the factors involved have not yet been defined. In a screen to... 
GPR56 | skeletal muscle | myoblast | dystroglycanopathies | SRE
Journal Article
Brain, ISSN 0006-8950, 2/2012, Volume 135, Issue 2, pp. 469 - 482
Journal Article