Marrosu MG - Search Results

1

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

2

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. Among authors: marrosu g, marrosu mg. Muscle Nerve. 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443. Muscle Nerve. 2010. PMID: 19768759

3

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

4

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

5

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.

6

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

7

Muscle MRI in female carriers of emerinopathy.

Carboni N, Mura M, Politano L, Cocco E, Marrosu G, Marrosu MG. Carboni N, et al. Among authors: marrosu g, marrosu mg. Eur J Neurol. 2013 Nov;20(11):e127. doi: 10.1111/ene.12246. Eur J Neurol. 2013. PMID: 24118169 No abstract available.

8

Is multiple sclerosis severity a genetically influenced trait?

Cocco E, Marrosu MG. Cocco E, et al. Among authors: marrosu mg. Neurol Sci. 2000;21(4 Suppl 2):S843-7. doi: 10.1007/s100720070023. Neurol Sci. 2000. PMID: 11205360 Review.

9

A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A.

Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. Marrosu MG, et al. Among authors: marrosu g. Neurology. 1997 Feb;48(2):489-93. doi: 10.1212/wnl.48.2.489. Neurology. 1997. PMID: 9040744

10

A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities.

Murru MR, Vannelli A, Marrosu G, Cocco E, Corongiu D, Tranquilli S, Cherchi MV, Mura M, Barberini L, Mallarini G, Marrosu MG. Murru MR, et al. Among authors: marrosu g, marrosu mg. Neurol Sci. 2006 Apr;27(1):18-23. doi: 10.1007/s10072-006-0560-8. Neurol Sci. 2006. PMID: 16688595

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