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Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

https://doi.org/10.1016/j.nmd.2007.04.010
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25/25 checkable references clean · checked 2026-07-23

Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.

4 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.

The 25 checked references that resolve
resolves10.1016/S0960-8966(02)00139-6
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands
resolves10.1073/pnas.121027598
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
resolves10.1086/340608
Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy
resolves10.1074/jbc.M207696200
Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of Three COL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy
resolves10.1002/jcp.20443
Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10‐N7 domains
resolves10.1002/ana.20586
Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy
resolves10.1016/B978-0-12-775170-2.50012-3
Microfibrillar Collagen Type VI
resolves10.1053/ejpn.2002.0593
Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
resolves10.1086/377107
New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
resolves10.1093/hmg/ddi025
Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy
resolves10.1093/brain/awl146
A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21
resolves10.1016/j.mcn.2005.08.005
Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency
resolves10.1212/01.WNL.0000163990.00057.66
Detection of common and private mutations in the <i>COL6A1</i> gene of patients with Bethlem myopathy
resolves10.1002/j.1460-2075.1992.tb05527.x
Structure of recombinant N‐terminal globule of type VI collagen alpha 3 chain and its binding to heparin and hyaluronan.
resolves10.1016/S0960-8966(03)00091-9
Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype
resolves10.1136/jmg.2004.023754
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy
resolves10.1074/jbc.272.42.26522
Type VI Collagen Anchors Endothelial Basement Membranes by Interacting with Type IV Collagen
resolves10.1111/j.1432-1033.1994.tb18727.x
Recombinant expression and structural and binding properties of α1(VI) and α2(VI) chains of human collagen type VI
resolves10.1002/ana.1120
Frameshift mutation in the collagen VI gene causes Ullrich's disease
resolves10.1212/WNL.59.6.920
Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
resolves10.1212/01.WNL.0000113023.84421.00
Ullrich disease due to deficiency of collagen VI in the sarcolemma
resolves10.1016/j.nmd.2006.05.228
P.P.7 05 Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle
resolves10.1038/ng0598-94
Mutations in the integrin α7 gene cause congenital myopathy
resolves10.1016/S0002-9440(10)61162-5
Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology
resolves10.1016/j.yexcr.2004.03.002
Deficiency of tenascin-X causes a decrease in the level of expression of type VI collagen
The 4 references without a DOI — listed, not checked
no DOI — not checkedCloning and chromosomal localization of human genes encoding the three chains of type VI collagen
no DOI — not checkedCollagen VI related muscle disorders
no DOI — not checkedSmooth muscle cell to elastic lamina connections in developing mouse aorta. Role in aortic medial organization
no DOI — not checkedExtracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker–Warburg syndrome caused by POMT1 mutation
What this badge says. CiteStamped means the CHECKABLE references of this work were clean at the dated check: each resolved to a known work in a public registry, and none carried a retraction notice at that time. It says nothing about the quality, findings, or importance of the work itself, and nothing about references deposited without a DOI.

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