Associated Papers
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
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
Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing.
Aguti S et al.
Molecular Therapy. Nucleic Acids, 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
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Sarker S et al.
Scientific Reports, 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
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Marinella G et al.
International Journal of Molecular Sciences, 2022
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.
Gregorio I et al.
Disease Models & Mechanisms, 2022
Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
Picillo E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy.
Brands J et al.
Muscle & Nerve, 2021
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.
Bolduc V et al.
Neuromuscular Disorders : Nmd, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Collagen VI is required for the structural and functional integrity of the neuromuscular junction.
Cescon M et al.
Acta Neuropathologica, 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
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
Butterfield RJ et al.
Plos One, 2017
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F et al.
Biochimica Et Biophysica Acta, 2014
siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.
Bolduc V et al.
Molecular Therapy. Nucleic Acids, 2014
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
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
Gualandi F et al.
Muscle & Nerve, 2011
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
Early onset collagen VI myopathies: Genetic and clinical correlations.
Briñas L et al.
Annals of Neurology, 2010
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL et al.
Human Molecular Genetics, 2005