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7. Frameshift mutation in the collagen VI gene causes Ullrich's disease. Higuchi I; Shiraishi T; Hashiguchi T; Suehara M; Niiyama T; Nakagawa M; Arimura K; Maruyama I; Osame M Ann Neurol; 2001 Aug; 50(2):261-5. PubMed ID: 11506412 [TBL] [Abstract][Full Text] [Related]
8. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci. Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P Neuropediatrics; 2004 Apr; 35(2):103-12. PubMed ID: 15127309 [TBL] [Abstract][Full Text] [Related]
9. Merosin (laminin-2) localization in basal lamina of normal skeletal muscle fibers and changes in plasma membrane of merosin-deficient skeletal muscle fibers. Shibuya S; Wakayama Y; Inoue M; Kojima H; Oniki H Med Electron Microsc; 2003 Dec; 36(4):213-20. PubMed ID: 16228654 [TBL] [Abstract][Full Text] [Related]
10. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem. Zou Y; Zhang RZ; Sabatelli P; Chu ML; Bönnemann CG J Neuropathol Exp Neurol; 2008 Feb; 67(2):144-54. PubMed ID: 18219255 [TBL] [Abstract][Full Text] [Related]
11. Collagen VI deficiency in Ullrich's disease. Higuchi I; Suehara M; Iwaki H; Nakagawa M; Arimura K; Osame M Ann Neurol; 2001 Apr; 49(4):544. PubMed ID: 11310637 [No Abstract] [Full Text] [Related]
12. Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy. Rollins S; Prayson RA; McMahon JT; Cohen BH Am J Clin Pathol; 2001 Sep; 116(3):326-30. PubMed ID: 11554158 [TBL] [Abstract][Full Text] [Related]
13. Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling. Paco S; Ferrer I; Jou C; Cusí V; Corbera J; Torner F; Gualandi F; Sabatelli P; Orozco A; Gómez-Foix AM; Colomer J; Nascimento A; Jimenez-Mallebrera C J Neuropathol Exp Neurol; 2012 Oct; 71(10):894-906. PubMed ID: 22975586 [TBL] [Abstract][Full Text] [Related]
14. Different pattern of HSP47 expression in skeletal muscle of patients with neuromuscular diseases. Higuchi I; Hashiguchi A; Matsuura E; Higashi K; Shiraishi T; Hirata N; Arimura K; Osame M Neuromuscul Disord; 2007 Mar; 17(3):221-6. PubMed ID: 17324572 [TBL] [Abstract][Full Text] [Related]
15. Enhanced degradation of proteins of the basal lamina and stroma by matrix metalloproteinases from the salivary glands of Sjögren's syndrome patients: correlation with reduced structural integrity of acini and ducts. Goicovich E; Molina C; Pérez P; Aguilera S; Fernández J; Olea N; Alliende C; Leyton C; Romo R; Leyton L; González MJ Arthritis Rheum; 2003 Sep; 48(9):2573-84. PubMed ID: 13130477 [TBL] [Abstract][Full Text] [Related]
16. Basement membrane remodeling in skeletal muscles of patients with limb ischemia involves regulation of matrix metalloproteinases and tissue inhibitor of matrix metalloproteinases. Baum O; Ganster M; Baumgartner I; Nieselt K; Djonov V J Vasc Res; 2007; 44(3):202-13. PubMed ID: 17337906 [TBL] [Abstract][Full Text] [Related]
17. Molecular consequences of dominant Bethlem myopathy collagen VI mutations. Baker NL; Mörgelin M; Pace RA; Peat RA; Adams NE; Gardner RJ; Rowland LP; Miller G; De Jonghe P; Ceulemans B; Hannibal MC; Edwards M; Thompson EM; Jacobson R; Quinlivan RC; Aftimos S; Kornberg AJ; North KN; Bateman JF; Lamandé SR Ann Neurol; 2007 Oct; 62(4):390-405. PubMed ID: 17886299 [TBL] [Abstract][Full Text] [Related]
18. Type V and VI collagen for cohesion of dermal fibrillar structures. Kobayasi T; Karlsmark T J Submicrosc Cytol Pathol; 2006; 38(2-3):103-8. PubMed ID: 17784637 [TBL] [Abstract][Full Text] [Related]
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20. Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. 1975. Mokri B; Engel AG Neurology; 1998 Jul; 51(1):1 and 10 pages following. PubMed ID: 9674765 [No Abstract] [Full Text] [Related] [Next] [New Search]