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TitleDOIcategoryYearcommentary
last author location
last author latitude
last author longitude
last author country
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Psychological aspects in neuromuscular patients: case series10.36185/2532-1900-1168clinical2025
including one BM case
NaplesItaly
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Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
10.3390/biom15101426clinical2025FerraraItaly
4
Generation and Characterization of Col6a1 knock-in mice: A Promising Pre-Clinical Model for Collagen VI-Related Dystrophies
10.1101/2025.03.11.642560 basic2025preprintBarcelonaSpain
5
Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems
10.1007/BF02864097clinical1930
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Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD
10.1212/nxg.0000000000200137clinical2024
7
Collagen VI regulates satellite cell self-renewal and muscle regeneration10.1038/ncomms2964basic1964
8
Systemic transplantation of human iPS-clerivotl MSCs to the neonates of Ullrich congenital muscular dystrophy model mice
10.1111//jog.14030therapy2019
9
Benign myopathy with autosomal dominant inheritance. A report on three pedigrees10.1093/brain/99.1.91clinical1976
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Type VI collagen is a major component of the human cornea10.1016/0014-5793(86)80297-6basic1986
11
Early‐onset benign autosomal dominant limb‐girdle myopathy with contractures (Bethlem myopathy)0.1212/WNL.38.4.573clinical1988
12
Structure of recombinant N-terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan
10.1002/j.1460-2075.1992.tb05527.xbasic1992
13
The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy10.1002/mus.880150510clinical1992
14
Collagen type VI in the human bone marrow microenvironment: a strong cytoadhesive component10.1182/blood.v86.5.1740.bloodjournal8651740basic1995
15
Spatial and temporal changes of type VI collagen expression during mouse development.
10.1002/(SICI)1097-0177(199608)206:4<447::AID-AJA10>3.0.CO;2-U
basic1996
16
Genetic localization of Bethlem myopathy10.1212/wnl.46.3.779basic1996
17
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures10.1038/ng0996-113basic1996
18
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37 10.1093/hmg/5.7.1043 basic1996
19
Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.310.1159/000154360 basic1996
20
Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen10.1074/jbc.272.42.26522basic1997
21
Missense Mutation in a Von Willebrand Factor Type a Domain of the α3(VI) Collagen Gene (COL6A3) in a Family with Bethlem Myopathy
10.1093/hmg/7.5.807basic1998
22
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
10.1093/hmg/7.6.981basic1998
23
Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy 10.1093/hmg/7.13.2135 basic1998
24
CA repeat polymorphism of the COL6A3 gene on chromosome 2q3710.1159/000022808 basic1998
25
Decreased expression of laminin β1 in chromosome 21-linked Bethlem myopathy10.1016/S0960-8966(99)00022-Xbasic1999
26
Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
10.1074/jbc.274.31.21817basic1999
27
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the a1(VI) collagen chain in an Italian family affected by Bethlem myopathy
10.1006/bbrc.1999.0680 basic1999
28
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures10.1093/brain/122.4.649clinical1999
29
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen
10.1016/S0960-8966(99)00014-0diagnostic1999
30
A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of the collagen alpha3(VI) chain interferes with protein folding
10.1096/fasebj.14.5.761basic2000
31
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI10.1073/pnas.121027598basic2001
32
Frameshift mutation in the collagen VI gene causes Ullrich's disease10.1002/ana.1120basic2001
33
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts10.1016/S0945-053X(01)00160-3basic2001
34
Bethlem myopathy in a taiwanese familyhttps://pubmed.ncbi.nlm.nih.gov/11480253/clinical2001case study
35
Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human
10.1016/s0945-053x(02)00009-4 basic2002
36
Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
10.1074/jbc.M207696200 basic2002
37
Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations
10.1074/jbc.M109932200basic2002
38
Fibronectin receptor reduction in skin and fibroblasts of patients with Ullrich's disease10.1002/mus.10250 basic2002
39
Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy 10.1002/mus.10100basic2002
40
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.10.1086/340608basic2002
41
Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness10.1212/wnl.59.6.920basic2002
42
Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study10.1212/wnl.58.9.1354basic2002
43
Antisense suppression of collagen VI synthesis results in reduced expression of collagen I in normal human osteoblast-like cells
10.1271/bbb.66.2743basic2002
44
Muscle MRI findings in a three-generation family affected by Bethlem myopathy10.1053/ejpn.2002.0618diagnostic2002
45
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
10.1086/377107basic2003
46
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotye10.1016/s0960-8966(03)00091-9clinical2003
47
Muscle Ultrasound in Bethlem Myopathy10.1055/s-2003-44665diagnostic2003
48
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency10.1038/ng1270therapy2003
49
Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen10.1016/j.yexcr.2004.03.002 basic2004
50
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy10.1093/hmg/ddi025basic2004
51
Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci
10.1055/s-2004-815832clinical2004
52
Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease10.1002/ana.20107 therapy2004
53
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
10.1002/ajmg.a.30443basic2005
54
A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
10.1007/s00439-005-1318-8 basic2005
55
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy10.1212/01.WNL.0000163990.00057.66basic2005
56
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy10.1002/ana.20586basic2005
57
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency10.1016/j.mcn.2005.08.005basic2005
58
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
10.1136/jmg.2004.023754basic2005
59
Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy 10.1016/j.nmd.2005.01.004clinical2005
60
Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)https://pubmed.ncbi.nlm.nih.gov/16447767/therapy2005
article in japanese, english abstract
61
Analysis of the expression of collagen VI in congenital muscular dystrophy10.1590/s0004-282x20050003000272005
auf portugiesisch (abstract englisch)
62
Cardiac and pulmonary investigations in Bethlem myopathy 10.1001/archneur.63.11.1617 clinical2006
63
COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy10.1002/ana.20705 basic2006
64
Pharmacometrics of Stilbenes: Seguing Towards the Clinic10.2174/157488406775268246basic2006
65
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations
10.1016/j.nmd.2006.07.015basic2006
66
Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency10.1002/mus.20449 basic2006
67
Cardiac and Pulmonary Investigations in Bethlem Myopathy10.1001/archneur.63.11.1617clinical2006
68
Cardiac involvement in Bethlem myopathy10.1001/archneur.64.6.915-bclinical2007
a comment and the reply to it
69
Molecular consequences of dominant Bethlem myopathy collagen VI mutations10.1002/ana.21213basic2007
70
Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease10.1212/01.wnl.0000271386.89878.22basic2007
71
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis
10.1016/j.nmd.2007.04.010basic2007
72
Variable penetrance of COL6A1 null mutations: Implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families
10.1016/j.nmd.2007.03.017clinical2007
73
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan10.1212/01.wnl.0000271387.10404.4eepidemiologic2007
74
A therapy for myopathy caused by collagen VI mutations?10.1016/j.matbio.2007.02.004therapy2007
75
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes10.1002/mus.21030basic2008
76
Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem
10.1097/nen.0b013e3181634ef7basic2008
77
Predominant fiber atrophy and fiber type disproportion in early ullrich disease10.1002/mus.21088basic2008
78
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies10.1073/pnas.0800962105therapy2008
79
Dysfunction of Mitochondria and Sarcoplasmic Reticulum in the Pathogenesis of Collagen VI Muscular Dystrophies10.1196/annals.1427.009therapy2008
80
Metabolic dysregulation and adipose tissue fibrosis: role of collagen VI10.1128/MCB.01300-08basic2009
81
Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy
10.1002/humu.21022 basic2009
82
Collagen VI Glycine Mutations: Perturbed Assembly and a Spectrum of Clinical Severity10.1002/ana.21439clinical2009
83
Congenital Dystrophy and Bethlem Myopathy: Current Knowledge on the Clinical Spectrum, Pathogenesis, and Future Therapeutic Avenues of Collagen VI Related
10.2174/157339609787587573review2009
84
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice
10.1111/j.1476-5381.2009.00316.xtherapy2009
85
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
10.1186/1471-2350-11-44basic2010
86
Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy10.1074/jbc.M109.093666basic2010
87
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
10.1016/j.nmd.2010.04.009clinical2010
88
Early onset collagen VI myopathies: genetic and clinical correlations10.1002/ana.22087clinical2010
89
Whole-body muscle magnetic resonance imaging in collagen type VI -related myopathies(Ullrich congenital muscular dystrophy and Bethlem myopathy)
10.1594/ecr2010/C-2378diagnostic2010poster
90
Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy
10.1007/s00256-009-0861-0diagnostic2010
91
Oxidative stress by monoamine oxidases is causally involved in myofiber damage in muscular dystrophy10.1093/hmg/ddq339therapy2010
92
Debio-025 is more effective than prednisone in reducing muscular pathology in mdx mice10.1016/j.nmd.2010.06.016therapy2010
93
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration10.1038/nm.2247therapy2010
94
Physical exercise stimulates autophagy in normal skeletal muscles but is detrimental for collagen VI-deficient muscles
10.4161/auto.7.12.17877basic2011
95
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy10.1002/ana.22283clinical2011
96
Searching for pulmonary outcome measures in ’Early Onset’ COL6-related myopathy10.1016/j.nmd.2011.06.827clinical2011
97
Dysfunctional tendon collagen fibrillogenesis in collagen VI null mice10.1016/j.matbio.2010.10.0012011
98
Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results10.1155/2011/139194therapy2011
99
Type VI collagen deficiency induces osteopenia with distortion of osteoblastic cell morphology10.1016/j.tice.2011.08.002basic2012
100
Altered trabecular bone structure and delayed cartilage degeneration in the knees of collagen VI null mice10.1371/journal.pone.0033397basic2012