• A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
• A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy
• Acquired long QT interval complicated with Torsades de Pointes as presentation of a pheochromocytoma in a paediatric patient: a case report
• Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
• Anatomical and histological studies of Bonnevie-Ullrich disease
• Anesthesia and Ullrich Congenital Muscular Dystrophy: Comment
• Anesthesia for thoracic surgery in a female patient with Ullrich congenital muscular dystrophy
• Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy
• Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
• Autosomal dominant Ullrich congenital muscular dystrophy due to a <em>de novo</em> mutation in <em>COL6A3</em> gene. A case report
• Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands
• Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy
• Cervical Hyperextension Treated by Posterior Spinal Correction and Fusion in A Patient with Ullrich Congenital Muscular Dystrophy: A Case Report
• Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report
• Clinical features of collagen VI-related dystrophies: A large Brazilian cohort
• COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy
• Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
• Collagen type VI myopathies
• Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy
• Collagen VI is required for the structural and functional integrity of the neuromuscular junction
• Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance
• Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
• Collagen VI-related muscle disorders
• Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice
• Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
• Congenital myopathies and muscular dystrophies
• Correlation between thigh muscle magnetic resonance imaging findings and clinical features of congenital muscular dystrophies: a preliminary study
• Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies
• Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results
• Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
• Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies
• Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
• Detection of early nocturnal hypoventilation in neuromuscular disorders
• Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
• Early Morphological Changes of the Rectus Femoris Muscle and Deep Fascia in Ullrich Congenital Muscular Dystrophy
• Episodes of recurrent pneumothorax in a patient with collagen VI-related congenital muscular dystrophy
• Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
• Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies
• Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?
• Gapmer Antisense Oligonucleotides to Selectively Suppress the Mutant Allele in COL6A Genes in Dominant Ullrich Congenital Muscular Dystrophy
• Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets
• Homozygous splice variant (c.1741-6G&gt;A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
• Inhibition of SMG-8, a subunit of SMG-1 kinase, ameliorates nonsense-mediated mRNA decay-exacerbated mutant phenotypes without cytotoxicity
• Isolation and identification of keratosulphate in urine of patients affected by Morquio-Ullrich disease
• Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis
• Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy
• Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs
• Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies
• Mandibular and Maxillary Cysts in a Pediatric Patient with Pierre Robin Sequence and Ullrich Congenital Muscular Dystrophy
• MORQUIO- ULLRICH DISEASE. A NEW MUCOPOLYSACCHARIDOSIS
• Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability
• Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies
• Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy
• Overexpression of miR-29 Leads to Myopathy that Resemble Pathology of Ullrich Congenital Muscular Dystrophy
• Paternal germline mosaicism in collagen VI related myopathies
• PATHOGENETIC CONSIDERATIONS ON A CASE OF MORQUIO-ULLRICH DISEASE
• Perioperative Pulmonary Optimization With Average Volume-Assured Pressure Support of a Pediatric Patient With Ullrich Congenital Muscular Dystrophy: A Case Report
• Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
• Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study
• Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders
• Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
• Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy
• Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy
• Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations
• The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy
• The Common miRNA Signatures Associated with Mitochondrial Dysfunction in Different Muscular Dystrophies
• Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators
• Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy
• Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum
• Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)
• Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis
• Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
• Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy
• Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2