Associated Papers
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.
Song D et al.
Clinical Genetics, 2021
Structure of the eukaryotic protein O-mannosyltransferase Pmt1-Pmt2 complex.
Bai L et al.
Nature Structural & Molecular Biology, 2019
31285605 (PubMed )
Supplement: NIHMS1530499-supplement-2.pdf
Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T et al.
Orphanet Journal of Rare Diseases, 2019
31311558 (PubMed )
Supplement: 13023_2019_1119_MOESM1_ESM.xlsx › POMT1_list_of_all_mutations
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
Bello L et al.
European Journal of Human Genetics : Ejhg, 2012
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
Abnormal glycosylation of dystroglycan in human genetic disease.
Hewitt JE
Biochimica Et Biophysica Acta, 2009
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
Mercuri E et al.
Neurology, 2009
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Muscular dystrophies due to defective glycosylation of dystroglycan.
Muntoni F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Godfrey C et al.
Brain : a Journal of Neurology, 2007
Physical and functional association of human protein O-mannosyltransferases 1 and 2.
Akasaka-Manya K et al.
The Journal of Biological Chemistry, 2006
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A et al.
Neurology, 2006
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
van Reeuwijk J et al.
Human Mutation, 2006
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