Merlini L - Search Results

1

Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.

Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Sabatelli P, et al. Among authors: merlini l. J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30. J Invest Dermatol. 2011. PMID: 20882040 Free article.

2

Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy.

Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G. Vanegas OC, et al. Among authors: merlini l. Muscle Nerve. 2002 Apr;25(4):513-9. doi: 10.1002/mus.10100. Muscle Nerve. 2002. PMID: 11932968

3

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. Demir E, et al. Among authors: merlini l. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992252 Free PMC article.

4

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.

Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Pepe G, et al. Among authors: merlini l. Neuromuscul Disord. 2002 Dec;12(10):984-93. doi: 10.1016/s0960-8966(02)00139-6. Neuromuscul Disord. 2002. PMID: 12467756 No abstract available.

5

Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts.

Lattanzi G, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, Squarzoni S, Maraldi NM. Lattanzi G, et al. Among authors: merlini l. Biochem Biophys Res Commun. 2003 Apr 11;303(3):764-70. doi: 10.1016/s0006-291x(03)00415-7. Biochem Biophys Res Commun. 2003. PMID: 12670476

6

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltràn-Valero de Barnabè D, van Bokoven H, Squarzoni S, Merlini L. Sabatelli P, et al. Among authors: merlini l. Biochim Biophys Acta. 2003 May 20;1638(1):57-62. doi: 10.1016/s0925-4439(03)00040-1. Biochim Biophys Acta. 2003. PMID: 12757935 Free article.

7

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

Irwin WA, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, Braghetta P, Columbaro M, Volpin D, Bressan GM, Bernardi P, Bonaldo P. Irwin WA, et al. Among authors: merlini l. Nat Genet. 2003 Dec;35(4):367-71. doi: 10.1038/ng1270. Epub 2003 Nov 16. Nat Genet. 2003. PMID: 14625552

8

Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition.

Capanni C, Sabatelli P, Mattioli E, Ognibene A, Columbaro M, Lattanzi G, Merlini L, Minetti C, Maraldi NM, Squarzoni S. Capanni C, et al. Among authors: merlini l. Exp Mol Med. 2003 Dec 31;35(6):538-44. doi: 10.1038/emm.2003.70. Exp Mol Med. 2003. PMID: 14749532

9

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: merlini l. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

10

Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2.

Merlini L, Sabatelli P, Columbaro M, Bonifazi E, Pisani V, Massa R, Novelli G. Merlini L, et al. Muscle Nerve. 2005 Jun;31(6):764-7. doi: 10.1002/mus.20289. Muscle Nerve. 2005. PMID: 15704146

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