Mazzeo A - Search Results

1

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

Musumeci O, Bassi MT, Mazzeo A, Grandis M, Crimella C, Martinuzzi A, Toscano A. Musumeci O, et al. Among authors: mazzeo a. Neurol Sci. 2011 Aug;32(4):665-8. doi: 10.1007/s10072-010-0445-8. Epub 2010 Nov 24. Neurol Sci. 2011. PMID: 21107874

2

Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in Lamp-2 gene.

Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Messina C, Vita G, Toscano A. Musumeci O, et al. Among authors: mazzeo a. Neuromuscul Disord. 2005 Jun;15(6):409-11. doi: 10.1016/j.nmd.2005.02.008. Epub 2005 Apr 19. Neuromuscul Disord. 2005. PMID: 15907287

3

Diffuse metabolic changes in the brain of patients with familial amyloid polyneuropathy. A proton MRSI study.

Mazzeo A, Toscano A, Stromillo ML, Battaglini M, Messina C, Federico A, Vita G, De Stefano N. Mazzeo A, et al. J Neurol Sci. 2006 Jul 15;246(1-2):31-5. doi: 10.1016/j.jns.2006.01.017. Epub 2006 Mar 10. J Neurol Sci. 2006. PMID: 16530227

4

Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.

Stancanelli C, Fabrizi GM, Ferrarini M, Cavallaro T, Taioli F, Di Leo R, Russo M, Gentile L, Toscano A, Vita G, Mazzeo A. Stancanelli C, et al. Among authors: mazzeo a. Neurol Sci. 2015 Jun;36(6):1003-6. doi: 10.1007/s10072-014-2050-8. Epub 2014 Dec 30. Neurol Sci. 2015. PMID: 25547330

5

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Gentile L, Russo M, Fabrizi GM, Taioli F, Ferrarini M, Testi S, Alfonzo A, Aguennouz M, Toscano A, Vita G, Mazzeo A. Gentile L, et al. Among authors: mazzeo a. Neurol Sci. 2020 May;41(5):1239-1243. doi: 10.1007/s10072-019-04219-1. Epub 2020 Jan 4. Neurol Sci. 2020. PMID: 31902012

6

Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects.

Russo M, Gentile L, Toscano A, Aguennouz M, Vita G, Mazzeo A. Russo M, et al. Among authors: mazzeo a. Brain Sci. 2020 Dec 9;10(12):952. doi: 10.3390/brainsci10120952. Brain Sci. 2020. PMID: 33316911 Free PMC article.

7

From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis.

Russo M, Gentile L, Toscano A, Vita G, Mazzeo A. Russo M, et al. Among authors: mazzeo a. Amyloid. 2020 Dec;27(4):279-280. doi: 10.1080/13506129.2020.1773425. Epub 2020 Jun 9. Amyloid. 2020. PMID: 32515606 No abstract available.

8

Multifocal motor neuropathy and asymptomatic Hashimoto's thyroiditis: first report of an association.

Toscano A, Rodolico C, Benvenga S, Girlanda P, Laurà M, Mazzeo A, Nobile-Orazio E, Trimarchi F, Vita G, Messina C. Toscano A, et al. Among authors: mazzeo a. Neuromuscul Disord. 2002 Aug;12(6):566-8. doi: 10.1016/s0960-8966(01)00311-x. Neuromuscul Disord. 2002. PMID: 12117481

9

"Dropped-head" syndrome due to isolated myositis of neck extensor muscles: MRI findings.

Gaeta M, Mazziotti S, Toscano A, Rodolico C, Mazzeo A, Blandino A. Gaeta M, et al. Among authors: mazzeo a. Skeletal Radiol. 2006 Feb;35(2):110-2. doi: 10.1007/s00256-005-0011-2. Epub 2005 Oct 12. Skeletal Radiol. 2006. PMID: 16220272

10

Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy.

Graceffa A, Russo M, Vita GL, Toscano A, Dattola R, Messina C, Vita G, Mazzeo A. Graceffa A, et al. Among authors: mazzeo a. Neuromuscul Disord. 2009 Jan;19(1):44-8. doi: 10.1016/j.nmd.2008.09.017. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084401

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