Merlini L - Search Results

1

Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.

Cardone N, Moula M, Baelde RJ, Biquand A, Villanova M, Metay C, Fiorillo C, Baratto S, Merlini L, Sabatelli P, Romero NB, Relaix F, Authier FJ, Taglietti V, Savarese M, de Winter J, Ottenheijm C, Richard I, Malfatti E. Cardone N, et al. Among authors: merlini l. Acta Neuropathol Commun. 2023 Mar 21;11(1):48. doi: 10.1186/s40478-023-01539-4. Acta Neuropathol Commun. 2023. PMID: 36945066 Free PMC 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

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.

5

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

6

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

7

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

8

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. Petrini S, et al. Among authors: merlini l. Mol Cell Neurosci. 2005 Nov;30(3):408-17. doi: 10.1016/j.mcn.2005.08.005. Mol Cell Neurosci. 2005. PMID: 16169245

9

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.

Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F. Neri M, et al. Among authors: merlini l. Neuromuscul Disord. 2007 Dec;17(11-12):913-8. doi: 10.1016/j.nmd.2007.07.005. Epub 2007 Sep 7. Neuromuscul Disord. 2007. PMID: 17826093

10

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.

Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, Ferlini A, Maraldi NM, Bonaldo P, Bernardi P. Merlini L, et al. Proc Natl Acad Sci U S A. 2008 Apr 1;105(13):5225-9. doi: 10.1073/pnas.0800962105. Epub 2008 Mar 24. Proc Natl Acad Sci U S A. 2008. PMID: 18362356 Free PMC article.

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