Associated Papers
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Diagnostic Precision in Pediatric Neuromuscular Disorders: A Case Study of Bethlem Myopathy Mimicking Duchenne Muscular Dystrophy.
Alyami NH et al.
Cureus, 2025
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Hu C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.
Méndez-Vidal C et al.
Journal of Translational Medicine, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 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
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
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
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 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
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Koppolu AA et al.
Folia Neuropathologica, 2017
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
Deconinck N et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Y et al.
Neuromuscular Disorders : Nmd, 2015
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
Yonekawa T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
Valencia CA et al.
Plos One, 2013
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.
Deconinck N et al.
Neuromuscular Disorders : Nmd, 2010
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Kawahara G et al.
Muscle & Nerve, 2008
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker NL et al.
Annals of Neurology, 2007
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA et al.
The Journal of Molecular Diagnostics : Jmd, 0
Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.
Kutluk MG et al.
Annals of Indian Academy of Neurology, 0
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0