Associated Papers
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.
Rahmuni Y et al.
Molecular Genetics & Genomic Medicine, 2026
Col6a1 knock-in mice provide a promising pre-clinical model for collagen VI-related dystrophies.
López-Márquez A et al.
Disease Models & Mechanisms, 2026
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fortunato F et al.
Biomolecules, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Allele-specific CRISPR-Cas9 editing inactivates a single-nucleotide variant associated with collagen VI muscular dystrophy.
Aoki Y
Molecular Therapy. Nucleic Acids, 2024
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Benati D et al.
Biomolecules, 2024
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V et al.
Molecular Therapy. Nucleic Acids, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.
Bolduc V et al.
Biorxiv : the Preprint Server for Biology, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Hu C et al.
Human Mutation, 2024
Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy.
Lee SA et al.
Medicine, 2023
Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Summa S et al.
Scientific Reports, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.
Krenn M et al.
European Journal of Neurology, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
Sirisena ND et al.
Bmc Neurology, 2021
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L et al.
Journal of Neurology, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V et al.
Jci Insight, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Kim SY et al.
Muscle & Nerve, 2018
Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies.
Fan Y et al.
Clinical Genetics, 2018
Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
Lee JH et al.
Journal of Clinical Neurology (seoul, Korea), 2017
Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy.
Hebbar M et al.
Indian Journal of Pediatrics, 2017
Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.
Fraser KL et al.
Erj Open Research, 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
Liang WC et al.
Plos One, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D et al.
Human Molecular Genetics, 2014
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant.
Park Y et al.
Annals of Rehabilitation Medicine, 2014
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Butterfield RJ et al.
Human Mutation, 2013
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
Yonekawa T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Flow cytometry analysis: a quantitative method for collagen VI deficiency screening.
Kim J et al.
Neuromuscular Disorders : Nmd, 2012
Collagen VI microfibril formation is abolished by an {alpha}2(VI) von Willebrand factor type A domain mutation in a patient with Ullrich congenital muscular dystrophy.
Tooley LD et al.
The Journal of Biological Chemistry, 2010
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Kawahara G et al.
Muscle & Nerve, 2008
Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
Pace RA et al.
Annals of Neurology, 2008
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL et al.
Annals of Neurology, 2007
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
Jimenez-Mallebrera C et al.
Neuromuscular Disorders : Nmd, 2006
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Giusti B et al.
Annals of Neurology, 2005