Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies.
Sabry S et al.
Molecular Biology Reports, 2023
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.
Mei HF et al.
World Journal of Pediatrics : Wjp, 2021
Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
Voglmeir J et al.
The Biochemical Journal, 2011
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
Endo T et al.
Methods in Enzymology, 2010
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
Manya H et al.
Neuromuscular Disorders : Nmd, 2008
Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
Hehr U et al.
Neurogenetics, 2007
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.
Haliloglu G et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2004
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