Published in J Med Genet on September 01, 2005
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An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
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Zebrafish models of collagen VI-related myopathies. Hum Mol Genet (2010) 1.21
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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet (2012) 1.02
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Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. J Biol Chem (2010) 1.01
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects. Am J Hum Genet (2012) 1.01
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. Hum Mutat (2013) 0.99
Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol (2011) 0.99
Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy. Skeletal Radiol (2010) 0.98
Novel insights into the function and dynamics of extracellular matrix in liver fibrosis. Am J Physiol Gastrointest Liver Physiol (2015) 0.97
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. BMC Med Genet (2010) 0.95
Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics (2008) 0.93
Autophagy in skeletal muscle homeostasis and in muscular dystrophies. Cells (2012) 0.92
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev (2011) 0.92
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. J Biol Chem (2010) 0.91
Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice. PLoS One (2012) 0.90
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies. J Neurol (2009) 0.89
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscul Disord (2013) 0.89
Aerobic Exercise and Pharmacological Treatments Counteract Cachexia by Modulating Autophagy in Colon Cancer. Sci Rep (2016) 0.89
The expanded collagen VI family: new chains and new questions. Connect Tissue Res (2013) 0.87
Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harb Perspect Biol (2013) 0.87
Correlated mRNAs and miRNAs from co-expression and regulatory networks affect porcine muscle and finally meat properties. BMC Genomics (2013) 0.87
A structure of a collagen VI VWA domain displays N and C termini at opposite sides of the protein. Structure (2013) 0.86
Faithful tissue-specific expression of the human chromosome 21-linked COL6A1 gene in BAC-transgenic mice. Mamm Genome (2007) 0.86
Autophagy thwarts muscle disease. Nat Med (2010) 0.84
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. Biochim Biophys Acta (2014) 0.84
Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function. J Biol Chem (2009) 0.84
Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases. Hum Mol Genet (2013) 0.84
Collagen VI, conformation of A-domain arrays and microfibril architecture. J Biol Chem (2011) 0.83
Discovery, Synthesis, and Optimization of Diarylisoxazole-3-carboxamides as Potent Inhibitors of the Mitochondrial Permeability Transition Pore. ChemMedChem (2015) 0.83
Postulating a role for connective tissue elements in inferior oblique muscle overaction (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2013) 0.82
RGD-Dependent Epithelial Cell-Matrix Interactions in the Human Intestinal Crypt. J Signal Transduct (2012) 0.82
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. J Cell Physiol (2012) 0.82
Collagen Type III and VI Turnover in Response to Long-Term Immobilization. PLoS One (2015) 0.82
Spontaneous keloid formation in patients with Bethlem myopathy. Neurology (2012) 0.82
Human adipose-derived stem cell transplantation as a potential therapy for collagen VI-related congenital muscular dystrophy. Stem Cell Res Ther (2014) 0.82
Activation of autophagy is required for muscle homeostasis during physical exercise. Autophagy (2011) 0.82
Redox-relevant aspects of the extracellular matrix and its cellular contacts via integrins. Antioxid Redox Signal (2014) 0.81
From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies. Skelet Muscle (2011) 0.81
Reactive stroma component COL6A1 is upregulated in castration-resistant prostate cancer and promotes tumor growth. Oncotarget (2015) 0.81
An ensemble method with hybrid features to identify extracellular matrix proteins. PLoS One (2015) 0.80
Myofiber-specific TEAD1 overexpression drives satellite cell hyperplasia and counters pathological effects of dystrophin deficiency. Elife (2016) 0.80
Changes in muscle cell metabolism and mechanotransduction are associated with myopathic phenotype in a mouse model of collagen VI deficiency. PLoS One (2013) 0.78
Cyclosporin A Promotes in vivo Myogenic Response in Collagen VI-Deficient Myopathic Mice. Front Aging Neurosci (2014) 0.78
Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors. Front Aging Neurosci (2014) 0.78
Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Front Genet (2013) 0.78
212th ENMC International Workshop:: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29-31 May 2015. Neuromuscul Disord (2016) 0.78
Recent advances using zebrafish animal models for muscle disease drug discovery. Expert Opin Drug Discov (2014) 0.77
Transcriptome and ultrastructural changes in dystrophic Epidermolysis bullosa resemble skin aging. Aging (Albany NY) (2015) 0.76
Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. Am J Transplant (2013) 0.76
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect. Am J Pathol (2017) 0.76
Meeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014. J Neuromuscul Dis (2014) 0.75
Integrated Analysis of the Roles of Long Noncoding RNA and Coding RNA Expression in Sheep (Ovis aries) Skin during Initiation of Secondary Hair Follicle. PLoS One (2016) 0.75
Mesenchymal condensation-dependent accumulation of collagen VI stabilizes organ-specific cell fates during embryonic tooth formation. Dev Dyn (2015) 0.75
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve (2016) 0.75
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish. PLoS One (2015) 0.75
Defining the hierarchical organisation of collagen VI microfibrils at nanometre to micrometre length scales. Acta Biomater (2016) 0.75
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations. Iran J Child Neurol (2013) 0.75
Ullrich Congenital Muscular Dystrophy Possibly Related With COL6A1 p.Gly302Arg Variant. Ann Rehabil Med (2014) 0.75
"Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies. Chin Med J (Engl) (2016) 0.75
Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging. Aging (Albany NY) (2016) 0.75
Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis. Ann Indian Acad Neurol (2013) 0.75
Respiratory Proteomics Today: Are Technological Advances for the Identification of Biomarker Signatures Catching up with Their Promise? A Critical Review of the Literature in the Decade 2004-2013. Proteomes (2014) 0.75
Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge? Iran J Pediatr (2010) 0.75
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing. J Clin Neurol (2014) 0.75
Teaching NeuroImages: characteristic phenotype of Ullrich congenital muscular dystrophy. Neurology (2013) 0.75
Authentication of collagen VI antibodies. BMC Res Notes (2017) 0.75
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