These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. De Palma S; Capitanio D; Vasso M; Braghetta P; Scotton C; Bonaldo P; Lochmüller H; Muntoni F; Ferlini A; Gelfi C J Proteome Res; 2014 Nov; 13(11):5022-30. PubMed ID: 25211533 [TBL] [Abstract][Full Text] [Related]
5. Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy. Butterfield RJ; Dunn DM; Hu Y; Johnson K; Bönnemann CG; Weiss RB PLoS One; 2017; 12(12):e0189664. PubMed ID: 29244830 [TBL] [Abstract][Full Text] [Related]
6. Collagen VI is required for the structural and functional integrity of the neuromuscular junction. Cescon M; Gregorio I; Eiber N; Borgia D; Fusto A; Sabatelli P; Scorzeto M; Megighian A; Pegoraro E; Hashemolhosseini S; Bonaldo P Acta Neuropathol; 2018 Sep; 136(3):483-499. PubMed ID: 29752552 [TBL] [Abstract][Full Text] [Related]
7. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. Antoniel M; Traina F; Merlini L; Andrenacci D; Tigani D; Santi S; Cenni V; Sabatelli P; Faldini C; Squarzoni S Cells; 2020 Feb; 9(2):. PubMed ID: 32053901 [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. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Hicks D; Lampe AK; Laval SH; Allamand V; Jimenez-Mallebrera C; Walter MC; Muntoni F; Quijano-Roy S; Richard P; Straub V; Lochmüller H; Bushby KM Brain; 2009 Jan; 132(Pt 1):147-55. PubMed ID: 19015158 [TBL] [Abstract][Full Text] [Related]
10. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Mercuri E; Yuva Y; Brown SC; Brockington M; Kinali M; Jungbluth H; Feng L; Sewry CA; Muntoni F Neurology; 2002 May; 58(9):1354-9. PubMed ID: 12011280 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. Petrini S; Tessa A; Stallcup WB; Sabatelli P; Pescatori M; Giusti B; Carrozzo R; Verardo M; Bergamin N; Columbaro M; Bernardini C; Merlini L; Pepe G; Bonaldo P; Bertini E Mol Cell Neurosci; 2005 Nov; 30(3):408-17. PubMed ID: 16169245 [TBL] [Abstract][Full Text] [Related]
14. Skin Biopsy for Diagnosis of Ullrich Congenital Muscular Dystrophy: An Observational Study. Chakrabarty B; Sharma MC; Gulati S; Sarkar C J Child Neurol; 2017 Dec; 32(14):1099-1103. PubMed ID: 29129153 [TBL] [Abstract][Full Text] [Related]
15. 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. Jimenez-Mallebrera C; Maioli MA; Kim J; Brown SC; Feng L; Lampe AK; Bushby K; Hicks D; Flanigan KM; Bonnemann C; Sewry CA; Muntoni F Neuromuscul Disord; 2006 Oct; 16(9-10):571-82. PubMed ID: 16935502 [TBL] [Abstract][Full Text] [Related]
16. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Baker NL; Mörgelin M; Peat R; Goemans N; North KN; Bateman JF; Lamandé SR Hum Mol Genet; 2005 Jan; 14(2):279-93. PubMed ID: 15563506 [TBL] [Abstract][Full Text] [Related]
17. Collagen-VI supplementation by cell transplantation improves muscle regeneration in Ullrich congenital muscular dystrophy model mice. Takenaka-Ninagawa N; Kim J; Zhao M; Sato M; Jonouchi T; Goto M; Yoshioka CKB; Ikeda R; Harada A; Sato T; Ikeya M; Uezumi A; Nakatani M; Noguchi S; Sakurai H Stem Cell Res Ther; 2021 Aug; 12(1):446. PubMed ID: 34372931 [TBL] [Abstract][Full Text] [Related]