Marrosu G - Search Results

1

Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.

Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E. Gavassini BF, et al. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26. Muscle Nerve. 2011. PMID: 21953594

2

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. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2011 Nov;44(5):826-8. doi: 10.1002/mus.22228. Muscle Nerve. 2011. PMID: 22006699

3

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations.

Carboni N, Mateddu A, Marrosu G, Cocco E, Marrosu MG. Carboni N, et al. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2013 Aug;48(2):161-70. doi: 10.1002/mus.23827. Epub 2013 Jun 28. Muscle Nerve. 2013. PMID: 23450819 Review.

4

Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin.

Carboni N, Brancati F, Cocco E, Solla E, D'Apice MR, Mateddu A, McIntyre A, Fadda E, Mura M, Lattanzi G, Piras R, Maioli MA, Marrosu G, Novelli G, Marrosu MG, Hegele RA. Carboni N, et al. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2014 Jun;49(6):928-30. doi: 10.1002/mus.24157. Muscle Nerve. 2014. PMID: 24375490 No abstract available.

5

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: marrosu g, marrosu mg. Muscle Nerve. 2007 Dec;36(6):828-32. doi: 10.1002/mus.20879. Muscle Nerve. 2007. PMID: 17701980

6

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. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2010 Apr;41(4):458-63. doi: 10.1002/mus.21514. Muscle Nerve. 2010. PMID: 19882644

7

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. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2011 May;43(5):688-93. doi: 10.1002/mus.21937. Epub 2011 Apr 1. Muscle Nerve. 2011. PMID: 21462202

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. Among authors: marrosu g, marrosu mg. 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

Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation.

Carboni N, Sardu C, Cocco E, Marrosu G, Manzi RC, Nissardi V, Isola F, Mateddu A, Solla E, Maioli MA, Oppo V, Piras R, Coghe G, Lai C, Marrosu MG. Carboni N, et al. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2012 Aug;46(2):187-92. doi: 10.1002/mus.23294. Muscle Nerve. 2012. PMID: 22806367

10

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. Among authors: marrosu g, marrosu mg. 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

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