Merlini L - Search Results

1

Collagen VI in the Musculoskeletal System.

Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Among authors: merlini l. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.

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

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.

6

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

7

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

8

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

9

Surgical treatment of neck hyperextension in myopathies.

Giannini S, Ceccarelli F, Faldini C, Pagkrati S, Merlini L. Giannini S, et al. Among authors: merlini l. Clin Orthop Relat Res. 2005 May;(434):151-6. doi: 10.1097/01.blo.0000150667.44293.e9. Clin Orthop Relat Res. 2005. PMID: 15864045

10

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.

Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognibene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, Maraldi NM. Squarzoni S, et al. Among authors: merlini l. J Cell Physiol. 2006 Jan;206(1):160-6. doi: 10.1002/jcp.20443. J Cell Physiol. 2006. PMID: 15965965

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