155 related articles for article (PubMed ID: 16169245)
1. 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]
2. Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.
Petrini S; Tessa A; Carrozzo R; Verardo M; Pierini R; Rizza T; Bertini E
Mol Cell Neurosci; 2003 Jun; 23(2):219-31. PubMed ID: 12812755
[TBL] [Abstract][Full Text] [Related]
3. Abnormal expression of proteoglycans in Ullrich's disease with collagen VI deficiency.
Higashi K; Higuchi I; Niiyama T; Uchida Y; Shiraishi T; Hashiguchi A; Saito A; Horikiri T; Suehara M; Arimura K; Osame M
Muscle Nerve; 2006 Jan; 33(1):120-6. PubMed ID: 16258947
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.
Paco S; Kalko SG; Jou C; Rodríguez MA; Corbera J; Muntoni F; Feng L; Rivas E; Torner F; Gualandi F; Gomez-Foix AM; Ferrer A; Ortez C; Nascimento A; Colomer J; Jimenez-Mallebrera C
PLoS One; 2013; 8(10):e77430. PubMed ID: 24223098
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Reduced cell anchorage may cause sarcolemma-specific collagen VI deficiency in Ullrich disease.
Kawahara G; Okada M; Morone N; Ibarra CA; Nonaka I; Noguchi S; Hayashi YK; Nishino I
Neurology; 2007 Sep; 69(10):1043-9. PubMed ID: 17785674
[TBL] [Abstract][Full Text] [Related]
11. Zebrafish models of collagen VI-related myopathies.
Telfer WR; Busta AS; Bonnemann CG; Feldman EL; Dowling JJ
Hum Mol Genet; 2010 Jun; 19(12):2433-44. PubMed ID: 20338942
[TBL] [Abstract][Full Text] [Related]
12. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Demir E; Sabatelli P; Allamand V; Ferreiro A; Moghadaszadeh B; Makrelouf M; Topaloglu H; Echenne B; Merlini L; Guicheney P
Am J Hum Genet; 2002 Jun; 70(6):1446-58. PubMed ID: 11992252
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Negative result in search for human alpha-dystrobrevin deficiency.
Ishikawa H; Nonaka I; Nishino I
Muscle Nerve; 2003 Sep; 28(3):387-8. PubMed ID: 12929204
[No Abstract] [Full Text] [Related]
15. Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.
Tagliavini F; Pellegrini C; Sardone F; Squarzoni S; Paulsson M; Wagener R; Gualandi F; Trabanelli C; Ferlini A; Merlini L; Santi S; Maraldi NM; Faldini C; Sabatelli P
Biochim Biophys Acta; 2014 Sep; 1842(9):1604-12. PubMed ID: 24907562
[TBL] [Abstract][Full Text] [Related]
16. Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
Petrini S; D'Amico A; Sale P; Lucarini L; Sabatelli P; Tessa A; Giusti B; Verardo M; Carrozzo R; Mattioli E; Scarpelli M; Chu ML; Pepe G; Russo MA; Bertini E
Neuromuscul Disord; 2007 Aug; 17(8):587-96. PubMed ID: 17588753
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Ullrich disease due to deficiency of collagen VI in the sarcolemma.
Ishikawa H; Sugie K; Murayama K; Awaya A; Suzuki Y; Noguchi S; Hayashi YK; Nonaka I; Nishino I
Neurology; 2004 Feb; 62(4):620-3. PubMed ID: 14981181
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]