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Journal Article
Journal Article
neurogenetics, ISSN 1364-6745, 11/2013, Volume 14, Issue 3, pp. 205 - 213
Journal Article
Biochemical Journal, ISSN 0264-6021, 06/2011, Volume 436, Issue 2, pp. 447 - 455
Congenital muscular dystrophies have a broad spectrum of genotypes and phenotypes and there is a need for a better biochemical understanding of this group of... 
Congenitalmuscular dystrophy | Protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) | Glycopeptide | Muscle-eye-brain disease | CONGENITAL MUSCULAR-DYSTROPHY | DEFECTIVE GLYCOSYLATION | FUKUTIN GENE-MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | RABBIT SKELETAL-MUSCLE | CLINICAL SPECTRUM | WALKER-WARBURG-SYNDROME | glycopeptide | LINKED OLIGOSACCHARIDES | N-ACETYLGLUCOSAMINYLTRANSFERASE-I | congenital muscular dystrophy | LAMININ-BINDING | muscle-eye-brain disease | protein-O-mannose N-acetylglucosaminyltransferase 1 (POMGnT1) | O-MANNOSYL GLYCANS | Humans | Child, Preschool | Dystroglycans - metabolism | N-Acetylglucosaminyltransferases - genetics | Substrate Specificity | Infant | Male | Walker-Warburg Syndrome - genetics | N-Acetylglucosaminyltransferases - chemistry | Young Adult | Walker-Warburg Syndrome - metabolism | Dystroglycans - chemistry | Female | Glycosyltransferases - genetics | Child | Peptide Fragments - genetics | Peptide Fragments - metabolism | Glycosyltransferases - chemistry | Mutation - genetics | N-Acetylglucosaminyltransferases - metabolism | Point Mutation | Glycosyltransferases - metabolism | Peptide Fragments - chemistry | Adolescent | Dystroglycans - genetics | Dystroglycan | Enzymes | N-Acetylglucosamine | Glycosyltransferase | N-Acetylglucosinyldiphosphodolichol N-acetylglucosaminyltransferase | Homology | Glycoproteins | Glycosylation | Mannose | Muscular dystrophy | Mimicry | Catalysis | Mutation | Protein structure | Genotypes | Index Medicus | POMGnT1, protein-O-mannose N-acetylglucosaminyltransferase 1 | CMD, congenital muscular dystrophy | IPTG, isopropyl β-D-thiogalactopyranoside | β-DG, β-dystroglycan | WWS, Walker–Warburg syndrome | LARGE, like-acetylglucosaminyltransferase gene | LGMD, limb-girdle muscular dystrophy | α-DG, α-dystroglycan | Fmoc, fluoren-9-ylmethoxycarbonyl | CK, creatine kinase | FKTN, fukutin gene | LB, Luria–Bertani | SPSS, solid-phase peptide synthesis | rPOMGnT1, recombinant protein-O-mannose N-acetylglucosaminyltransferase 1 | MEB, muscle-eye-brain disease | muscleeye-brain disease | FKRP, fukutin-related protein gene | GnTI, N-acetylglucosaminyltransferase I | MALDI–TOF, matrix-assisted laser-desorption ionization–time-of-flight | POMT1, protein-O-mannosyltransferase 1 | POMT2, protein-O-mannosyltransferase 2
Journal Article
Journal Article
Journal Article
Journal Article
Neurogenetics, ISSN 1364-6745, 11/2007, Volume 8, Issue 4, pp. 279 - 288
Muscle–eye–brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural... 
Human Genetics | Neurosciences | Biomedicine | Muscle–eye–brain disease | Congenital muscular dystrophy | Lissencephaly | Epilepsy | Polymicrogyria | Molecular Medicine | Muscle-eye-brain disease | epilepsy | polymicrogyria | ALPHA-DYSTROGLYCAN | CONGENITAL MUSCULAR-DYSTROPHY | MENTAL-RETARDATION | CLINICAL SPECTRUM | POMT1 | WALKER-WARBURG-SYNDROME | FUKUTIN | GLYCOSYLATION | MEB DISEASE | CLINICAL NEUROLOGY | congenital muscular dystrophy | lissencephaly | muscle-eye-brain disease | GENE | GENETICS & HEREDITY | Cobblestone Lissencephaly - enzymology | Eye Abnormalities - enzymology | Humans | Child, Preschool | Dystroglycans - metabolism | N-Acetylglucosaminyltransferases - genetics | Infant | Male | Mutation, Missense | Muscular Dystrophies - genetics | N-Acetylglucosaminyltransferases - chemistry | N-Acetylglucosaminyltransferases - deficiency | Base Sequence | Muscular Dystrophies - enzymology | Cobblestone Lissencephaly - pathology | Female | Cobblestone Lissencephaly - genetics | Child | Muscular Dystrophies - congenital | Genotype | Eye Abnormalities - genetics | Muscular Dystrophies - pathology | Genes, Recessive | Syndrome | Mice, Knockout | DNA - genetics | Homozygote | Phenotype | Animals | Adolescent | Heterozygote | Mice | Mutation | Neurology | Genotype & phenotype | NMR | Genetic disorders | Nuclear magnetic resonance | Muscular dystrophy | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2012, Volume 318, Issue 1, pp. 45 - 50
Journal Article