Reference health
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes
21/21 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.
3 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 21 checked references that resolve
resolves10.1093/glycob/cwf065
Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases
resolves10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
resolves10.1073/pnas.121027598
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
resolves10.1080/01913120050132859
The Ultrastructural and Histophotometric Study of Elastic and Collagen Fibers in Type II Ehlers-Danlos Syndrome and Subclinical Forms
resolves10.1086/340608
Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy
resolves10.1007/BF00201664
Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I?IV as a means of diagnostics and classification
resolves10.1016/S0021-9258(17)43189-9
Type VI collagen. Studies on its localization, structure, and biosynthetic form with monoclonal antibodies.
resolves10.1038/ng1270
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
resolves10.1212/01.WNL.0000113023.84421.00
Ullrich disease due to deficiency of collagen VI in the sarcolemma
resolves10.1093/brain/122.4.649
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
resolves10.1002/0471221929.ch2
The Collagen Family: Structure, Assembly, and Organization in the Extracellular Matrix
resolves10.1016/S0960-8966(02)00068-8
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE
resolves10.1055/s-2008-1059651
A CLINICAL AND HISTOLOGICAL STUDY OF ULLRICH'S DISEASE (CONGENITAL ATONIC-SCLEROTIC 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
resolves10.1016/S0960-8966(02)00139-6
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands
resolves10.1016/S0174-173X(88)80019-0
Morphometric Study of Cauliflower Collagen Fibrils in Ehlers-Danlos Syndrome Type I
resolves10.1007/BF02864097
Kongenitale, atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegenerativen Erkrankungen des neuromuskulären Systems
resolves10.1074/jbc.M304638200
Complexes of Matrilin-1 and Biglycan or Decorin Connect Collagen VI Microfibrils to Both Collagen II and Aggrecan
The 3 references without a DOI — listed, not checked
no DOI — not checkedMutations in the COL5A1 gene are causal in the Ehlers–Danlos syndromes I and II
no DOI — not checkedExtracellular matrix 1: Fibril‐forming collagens
no DOI — not checkedAbnormal collagen fibril structure in the gravis form (type I) of Ehlers–Danlos syndrome
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