Associated Papers
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
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Benati D et al.
Biomolecules, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Sharaf-Eldin WE et al.
Journal of Molecular Neuroscience : Mn, 2024
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing.
Aguti S et al.
Molecular Therapy. Nucleic Acids, 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
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.
Bolduc V et al.
Biorxiv : the Preprint Server for Biology, 2024
Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy.
Cenni V et al.
Cells, 2024
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Lee CL et al.
Frontiers in Genetics, 2024
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients.
Merlini L et al.
International Journal of Molecular Sciences, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic 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
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
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Morel V et al.
Frontiers in Genetics, 2023
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
Undiagnosed disease program in South Africa: Results from first 100 exomes.
Moosa S et al.
American Journal of Medical Genetics. Part A, 2022
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
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
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 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
[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].
Hong XW et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.
Marrosu E et al.
Molecular Therapy. Nucleic Acids, 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
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
Butterfield RJ et al.
Plos One, 2017
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
Fu J et al.
Chinese Medical Journal, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
Yonekawa T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.
Noguchi S et al.
Molecular Therapy. Nucleic Acids, 2014
Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
Zhang YZ et al.
World Journal of Pediatrics : Wjp, 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
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.
Sabatelli P et al.
The Journal of Investigative Dermatology, 2011
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.
Merlini L et al.
Oxidative Medicine and Cellular Longevity, 2011
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
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.
Merlini L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Kawahara G et al.
Neurology, 2007
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.
Angelin A et al.
Proceedings of the National Academy of Sciences of the United States of America, 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