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Substitutions of nucleotides at the 3' ends of COL6A1/2/3 exons induce exon skipping associated with collagen VI-related muscular dystrophies and therapeutic strategies10.1016/j.gim.2025.101431therapy2025Tokyo
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Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder10.1007/s10072-025-08124-8.clinical2025Shanghai31.22121.47China
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Cardiac involvement in Bethlem myopathy10.1001/archneur.64.6.915-bclinical2007
a comment and the reply to it
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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T 10.1093/brain/awaf116 basic2025Bethesda38.9-77
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Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient10.1016/j.scr.2025.103673basic2025Melbourne-37.48144.57
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Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limbs-girdle muscular dystrophy families10.1016/j.genrep.2025.102218basic2025
has also a few patients with COL6A1
Mardan34.20672.0298Pakistan
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Nanomechanics of cell-derived matrices as a functional read-out in Collagen VI-related Congenital Muscular Dystrophies10.1101/2024.09.13.612824 basic2025preprintBarcelona41.232.11
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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants10.1002/acn3.52225basic2025COLXII
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Collagen VI-Related Dystrophieshttps://www.ncbi.nlm.nih.gov/books/NBK1503/basicongoing
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Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene10.1016/j.scr.2024.103648basic2025
stem cell line on the mutation COL6A1 c.930 + 189C > T in intron 11
London51.5-0.11
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Severe progressive respiratory involvement requiring ventilator support in autosomal recessive Bethlem myopathy. A case report10.36185/2532-1900-654clinical2024Naples40.814.3
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Type VI Collagen Deficiency Causes Enhanced Periodontal Tissue Destruction10.1177/00220345241256306basic2024Bethesda38.9-77
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Mutations in COL6A Gene Family Responsible for Muscular Dystrophies in Three Unrelated Families10.61186/ibj.4018basic2024
About three families with six patients in Iran
Tehran35.4251.24
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First year results and insights from the Mexican Rare Disease Patient Registry10.1016/j.rare.2024.100046basic2024
3 COL6 patients reported in Mexico
Santiago de Querétaro
20.5-99.51
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Collagen VI: Role in synaptic transmission and seizure-related excitability10.1016/j.expneurol.2024.114911 basic2024Lund55.4213.11
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Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures 10.3390/ijms25137118basic2024Milano45.469.18
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Identification of key genes affecting ventilator-induced diaphragmatic dysfunction in diabetic mice10.3389/fgene.2024.1387688basic2024Wuhan30.35114.18
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Collablots: Quantification of collagen VI levels and its structural disorganisation in cell cultures from patients with collagen VI-related dystrophies10.1101/2024.12.06.627141 basic2024Barakaldo43.17-2.59
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COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy.10.1159/000536344basic2024case report
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A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant 10.1101/2024.03.21.581572basic2024preprintBethesda
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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
10.1101/2024.03.29.24304673basic2024preprint
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Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD10.1212/NXG.0000000000200137basic2024new mutationKyoto35.1135.46
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Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy 10.3390/cells13050378basic2024Padova45.411.8
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Native collagen VI delays muscle stem cell early differentiation10.1242/jcs.261419basic2024Bologna45.4911.32
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The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction10.3389/fmolb.2024.1376091basic2024Bryan30.4-96.22
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Chapter 6 - Type VI collagen10.1016/B978-0-443-15617-5.00004-4basic2024
book chapter from Biochemistry of Collagens, Laminins and Elastin
Herlev55.7212.43
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Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy 10.3390/genes15111405 clinical2024case reportBuraidah26.243.97
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A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family
https://pmc.ncbi.nlm.nih.gov/articles/PMC11551527/
clinical2024case reportBamako12.398
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Studyhttps://doi.org/10.1155/2024/3503253clinical2024Shanghai31.22121.47
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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy10.1007/s12031-024-02266-8clinical2024Cairo3031.23
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Bethlem myopathy: A novel homozygous variant of c.385C>T (p.Arg129Cys) in the COL6A2 gene10.1002/ccr3.9306clinical2024Tehran
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Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India10.1007/s10048-024-00776-6clinical2024Bengaluru
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Identification and validation of COL6A1 as a novel target for tumor electric field therapy in glioblastoma10.1111/cns.14802 clinical2024Beijing
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Identification of novel variations in three cases with rare inherited neuromuscular disorder10.3892/etm.2024.12558clinical2024
case report, new mutation
Shijiazhuang
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A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 - Almost Overlooked10.1212/WNL.0000000000209476clinical2024
case report, new mutation
Berlin
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Anaesthesia management of a patient with Bethlem Myopathy for elective tonsillectomy: a case report10.1186/s12871-024-02539-0clinical2024Drogheda
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Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts10.3390/biom14111412 therapy2024Modena
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Identifying Hub Genes and Metabolic Pathways in Collagen VI-Related Dystrophies: A Roadmap to Therapeutic Intervention 10.3390/biom14111376therapy2024Stockholm
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Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice10.1186/s13287-024-03951-6therapy2024Kyoto
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Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy10.1101/2024.03.22.586265. therapy2024Bethesda
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Salbutamol repurposing ameliorates neuromuscular junction defects and muscle atrophy in Col6a1−/− mouse model of collagen VI‐related myopathies10.1002/ctm2.1688therapy2024Padova
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Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing10.1016/j.omtn.2024.102237therapy2024London
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Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy10.1212/NXG.0000000000200148therapy2024Bethesda
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Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy10.1016/j.omtn.2024.102178therapy2024Bethesda
46
Apelin stimulation of the vascular skeletal muscle stem cell niche enhances endogenous repair in dystrophic mice10.1126/scitranslmed.abn8529therapy2024Sherbrooke
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Exome sequencing identifies genes associated with sleep-related traits (COL6 in the brain)https://doi.org/10.1038/s41562-023-01785-52024Shanghai
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Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence 10.1016/j.celrep.2023.113371basic2023
49
Collagen VI promotes recovery from colitis by inducing lymphangiogenesis and drainage of inflammatory cells10.1002/path.6092basic2023
50
Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy.10.1093/qjmed/hcad209basic2023
51
Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility10.1038/s41598-023-41632-1basic2023
52
Collagen type VI regulates TGFβ bioavailability in skeletal muscle10.1101/2023.06.22.545964basic2023preprint
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Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy.10.1097/MD.0000000000033122basic2023
54
Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease.10.3389/fcell.2023.1129000basic2023
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Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy10.4103/0028-3886.391402clinical2023about COL12
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Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome studydoi:10.1016/j.nmd.2023.03.003clinical2023
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Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center10.3389/fgene.2023.1242277clinical2023
58
New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients 10.3390/ijms241512474clinical2023
59
 Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2 10.1007/s11033-023-08644-6 clinical2023
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Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy10.1016/j.nmd.2023.05.007clinical2023
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Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype10.3390/ijms24076678clinical2023
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Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes10.3390/ijms24065551clinical2023
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Collagen VI in the Musculoskeletal System10.3390/ijms24065095clinical2023
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Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course10.1097/BPO.0000000000002283clinical2023
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A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report10.3390/jpm13111577diagnostic2023
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Data augmentation study for rare diseases assessment with Deep Learning: Confocal Imaging analysis of Congenital Muscular Dystrophy
https://repositorio.upct.es/bitstream/handle/10317/13673/das.pdf?sequence=1&isAllowed=y
ML2023
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Surgical Outcome on Bethlem Myopathy-A Case Report10.1016/j.neurom.2023.04.367therapy2023
68
Sustained oral spermidine supplementation rescues functional and structural defects in COL6-deficient myopathic mice10.1080/15548627.2023.2241125 therapy2023
69
Human intestinal myofibroblasts deposited collagen VI enhances adhesiveness for T cells – A novel mechanism for maintenance of intestinal inflammation10.1016/j.matbio.2022.09.001basic2022
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Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages10.1016/j.matbio.2022.08.004basic2022
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Reprogramming the piRNA pathway for multiplexed and transgenerational gene silencing in C. elegans10.1038/s41592-021-01369-zbasic2022
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Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report10.36185/2532-1900-073clinical2022new case
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A woman in her fifties with chronic muscle weakness10.4045/tidsskr.21.0038clinical2022
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Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy10.1111/pde.14862clinical2022
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Inherited myopathies in patients from Sub-Saharan Africa: Results from a retrospective cohort10.1016/j.jocn.2022.10.007clinical2022
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Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction10.1242/dmm.049481clinical2022
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Using in situ hybridization to delineate collagen VI genes’ expression patterns in skeletal muscles of wild-type and COL6-related dystrophies mice10.1016/j.nmd.2022.07.332clinical2022
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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene10.3390/ijms232012127clinical2022
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Computer vision tools for the automatic evaluation of collagen VI deficiencieshttp://hdl.handle.net/2117/368133diagnosis2022
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Severity classification in cases of collagen vi-related myopathy with convolutional neural networks and handcrafted texture featureshttps://arxiv.org/pdf/2202.13853.pdfML2022
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Deep learning for automatic segmentation of thigh and leg muscles10.1007/s10334-021-00967-4ML2022
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Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies10.1212/CON.0000000000001203review2022
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the Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy10.3390/ijms23147651therapy2022
84
RNA-based therapeutics for neurological diseases10.1080/15476286.2021.2021650therapy2022
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CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts10.3390/ijms23084410therapy2022
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Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy10.1007/978-3-030-80614-9_14basic2021book chapter
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Ablation of collagen VI leads to the release of platelets with altered function 10.1182/bloodadvances.2020002671basic2021
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Endotrophin is associated with chronic multimorbidity and all-cause mortality in a cohort of elderly women10.1016/j.ebiom.2021.103391basic2021
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Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies10.3233/JND-200577basic2021
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Integrated Cells and Collagen Fibers Spatial Image Analysis
https://www.frontiersin.org/articles/10.3389/fbinf.2021.758775/full
basic2021
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Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies10.1002/acn3.51450basic2021
92
The critical role of collagen VI in lung development and chronic lung disease 10.1016/j.mbplus.2021.100058basic2021
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Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy10.3892/ijmm.2021.4861clinical2021c.736‑1G>C
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Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family10.1097/CND.0000000000000320clinical2021
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A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report10.1186/s12883-021-02134-7clinical2021p.Gly556Val hom
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Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey10.4103/aian.AIAN_1182_20clinical2021
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Causative variant profile of collagen VI-related dystrophy in Japan10.1186/s13023-021-01921-2clinical2021
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Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies10.1212/WNL.0000000000011499clinical2021
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Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene10.3233/JND-200476clinical2021
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Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation10.33470/2379-9536.1328clinical2021