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Items: 16

1.

Sarcopenia and sarcopenic obesity in patients with muscular dystrophy.

Merlini L, Vagheggini A, Cocchi D.

Front Aging Neurosci. 2014 Oct 7;6:274. doi: 10.3389/fnagi.2014.00274. eCollection 2014.

2.

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.

Bolduc V, Zou Y, Ko D, Bönnemann CG.

Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74.

3.

Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy.

Miscione MT, Bruno F, Ripamonti C, Nervuti G, Orsini R, Faldini C, Pellegrini M, Cocchi D, Merlini L.

ScientificWorldJournal. 2013 Sep 12;2013:152684. doi: 10.1155/2013/152684. eCollection 2013.

4.

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results.

Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, Michelini ME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P, Bernardi P.

Oxid Med Cell Longev. 2011;2011:139194. doi: 10.1155/2011/139194. Epub 2011 Oct 17.

5.

ColVI myopathies: where do we stand, where do we go?

Allamand V, Briñas L, Richard P, Stojkovic T, Quijano-Roy S, Bonne G.

Skelet Muscle. 2011 Sep 23;1:30. doi: 10.1186/2044-5040-1-30.

6.

The collagen VI-related myopathies: muscle meets its matrix.

Bönnemann CG.

Nat Rev Neurol. 2011 Jun 21;7(7):379-90. doi: 10.1038/nrneurol.2011.81. Review.

7.

The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.

Bönnemann CG.

Handb Clin Neurol. 2011;101:81-96. doi: 10.1016/B978-0-08-045031-5.00005-0. Review.

8.

Therapy of collagen VI-related myopathies (Bethlem and Ullrich).

Merlini L, Bernardi P.

Neurotherapeutics. 2008 Oct;5(4):613-8. doi: 10.1016/j.nurt.2008.08.004. Review.

9.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR.

Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439.

10.

Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins.

Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P.

Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6. Epub 2007 Jan 10.

11.

Collagen VI related muscle disorders.

Lampe AK, Bushby KM.

J Med Genet. 2005 Sep;42(9):673-85. Review.

12.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.

J Med Genet. 2005 Feb;42(2):108-20.

13.

Genomewide linkage and linkage disequilibrium analyses identify COL6A1, on chromosome 21, as the locus for ossification of the posterior longitudinal ligament of the spine.

Tanaka T, Ikari K, Furushima K, Okada A, Tanaka H, Furukawa K, Yoshida K, Ikeda T, Ikegawa S, Hunt SC, Takeda J, Toh S, Harata S, Nakajima T, Inoue I.

Am J Hum Genet. 2003 Oct;73(4):812-22. Epub 2003 Sep 4.

14.

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.

Am J Hum Genet. 2003 Aug;73(2):355-69. Epub 2003 Jul 1.

15.

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. Epub 2002 Apr 24.

16.

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G.

Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. Epub 2001 May 29.

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