Associated Papers
A prospective observational study assessing the functional disease progression of LGMDR4, betasarcoglycan-related limb girdle muscular dystrophy.
Iammarino MA et al.
Journal of Neuromuscular Diseases, 2025
Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159-9T>A, in a Chinese patient with mucopolysaccharidosis type I.
Yan L et al.
Molecular Genetics & Genomic Medicine, 2024
Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.
Mendell JR et al.
Nature Medicine, 2024
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E.
Li C et al.
The Journal of Clinical Investigation, 2023
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Yiş U et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2018
Different outcome of sarcoglycan missense mutation between human and mouse.
Henriques SF et al.
Plos One, 2018
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Liang WC et al.
Journal of the Neurological Sciences, 2016
Diagnostic strategy for limb-girdle muscular dystrophies.
Eymard B et al.
Revue Neurologique, 2012
Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
Cottrell CE et al.
Clinical Genetics, 2012
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate.
Duclos F et al.
Neuromuscular Disorders : Nmd, 1998
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Bönnemann CG et al.
Human Molecular Genetics, 1996
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.
Lim LE et al.
Nature Genetics, 1995