• <em>COL12A1</em> Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy
• A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder-Case Report
• A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1: Almost Overlooked
• A novel variant of COL6A3 c.6817-2(IVS27)A&gt;G causing Bethlem myopathy: A case report
• A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report
• Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report
• Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
• Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course
• Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene
• Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures
• Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene
• Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
• Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction
• Collagen VI in the Musculoskeletal System
• Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study
• Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes
• Homozygous splice variant (c.1741-6G&gt;A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
• Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort
• Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis
• New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients
• Personalized <em>in vitro</em> Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies
• Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center
• Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in <em>COL6A2</em> Gene Causes Recessive UCMD
• Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
• Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy
• Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2