Carboni N - Search Results

1

Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles.

Cocco E, Meloni A, Murru MR, Corongiu D, Tranquilli S, Fadda E, Murru R, Schirru L, Secci MA, Costa G, Asunis I, Cuccu S, Fenu G, Lorefice L, Carboni N, Mura G, Rosatelli MC, Marrosu MG. Cocco E, et al. Among authors: carboni n. PLoS One. 2012;7(7):e41678. doi: 10.1371/journal.pone.0041678. Epub 2012 Jul 25. PLoS One. 2012. PMID: 22848563 Free PMC article.

2

A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.

Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG. Maioli MA, et al. Among authors: carboni n. Muscle Nerve. 2007 Dec;36(6):828-32. doi: 10.1002/mus.20879. Muscle Nerve. 2007. PMID: 17701980

3

Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation.

Carboni N, Mura M, Marrosu G, Cocco E, Ahmad M, Solla E, Mateddu A, Maioli MA, Marini S, Nissardi V, Frau J, Mallarini G, Mercuro G, Marrosu MG. Carboni N, et al. Neuromuscul Disord. 2008 Apr;18(4):291-8. doi: 10.1016/j.nmd.2008.01.009. Epub 2008 Mar 11. Neuromuscul Disord. 2008. PMID: 18337098

4

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.

Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG. Carboni N, et al. Muscle Nerve. 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. Muscle Nerve. 2010. PMID: 19768759

5

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.

Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, Mateddu A, Maioli MA, Piras R, Mallarini G, Mercuro G, Porcu M, Marrosu MG. Carboni N, et al. Muscle Nerve. 2010 Apr;41(4):458-63. doi: 10.1002/mus.21514. Muscle Nerve. 2010. PMID: 19882644

6

Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5.

Carboni N, Floris M, Mateddu A, Porcu M, Marrosu G, Solla E, Cocco E, Mura M, Marini S, Maioli MA, Piras R, Aste R, Marrosu MG. Carboni N, et al. Muscle Nerve. 2011 May;43(5):688-93. doi: 10.1002/mus.21937. Epub 2011 Apr 1. Muscle Nerve. 2011. PMID: 21462202

7

Epidemiology of multiple sclerosis in south-western Sardinia.

Cocco E, Sardu C, Massa R, Mamusa E, Musu L, Ferrigno P, Melis M, Montomoli C, Ferretti V, Coghe G, Fenu G, Frau J, Lorefice L, Carboni N, Contu P, Marrosu MG. Cocco E, et al. Among authors: carboni n. Mult Scler. 2011 Nov;17(11):1282-9. doi: 10.1177/1352458511408754. Epub 2011 Jun 7. Mult Scler. 2011. PMID: 21652610

8

Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.

Carboni N, Mura M, Mercuri E, Marrosu G, Manzi RC, Cocco E, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Marini S, Lai C, Politano L, Marrosu MG. Carboni N, et al. Neuromuscul Disord. 2012 Feb;22(2):152-8. doi: 10.1016/j.nmd.2011.09.001. Epub 2011 Oct 10. Neuromuscul Disord. 2012. PMID: 21993399

9

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: a chance association or a novel phenotype?

Carboni N, Marrosu G, Porcu M, Mateddu A, Solla E, Cocco E, Maioli MA, Oppo V, Piras R, Marrosu MG. Carboni N, et al. Muscle Nerve. 2011 Nov;44(5):826-8. doi: 10.1002/mus.22228. Muscle Nerve. 2011. PMID: 22006699

10

HLA-DRB1-DQB1 haplotypes confer susceptibility and resistance to multiple sclerosis in Sardinia.

Cocco E, Sardu C, Pieroni E, Valentini M, Murru R, Costa G, Tranquilli S, Frau J, Coghe G, Carboni N, Floris M, Contu P, Marrosu MG. Cocco E, et al. Among authors: carboni n. PLoS One. 2012;7(4):e33972. doi: 10.1371/journal.pone.0033972. Epub 2012 Apr 11. PLoS One. 2012. PMID: 22509268 Free PMC article.

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