Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
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
Structure and assembly of the dystrophin glycoprotein complex.
Wan L et al.
Nature, 2025
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M et al.
Gene, 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
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ et al.
Arquivos De Neuro-psiquiatria, 2023
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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Unravelling genetic variants of a swedish family with high risk of prostate cancer.
Barilla S et al.
Hereditary Cancer in Clinical Practice, 2022
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L et al.
Journal of Neuromuscular Diseases, 2021
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J et al.
Brain : a Journal of Neurology, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L et al.
Clinical Genetics, 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
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?
Di Fruscio G et al.
European Journal of Human Genetics : Ejhg, 2016
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults.
Tarnopolsky M et al.
Neuromuscular Disorders : Nmd, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C et al.
Neurology, 2015
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort.
Wong-Kisiel LC et al.
Neuromuscular Disorders : Nmd, 2010
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
Ginjaar HB et al.
Journal of Neurology, 2000
LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3.
Bönnemann CG et al.
Neuromuscular Disorders : Nmd, 1998