Silvestri G - Search Results

1

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, Ricci E, Silvestri G, Giglio V, Messano L, Zachara E, Bellocci F. Sanna T, et al. Among authors: silvestri g. Eur Heart J. 2003 Dec;24(24):2227-36. doi: 10.1016/j.ehj.2003.09.020. Eur Heart J. 2003. PMID: 14659775

2

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family.

Manfredi G, Silvestri G, Servidei S, Ricci E, Mirabella M, Bertini E, Papacci M, Rana M, Tonali P. Manfredi G, et al. Among authors: silvestri g. J Neurol Sci. 1993 Mar;115(1):91-4. doi: 10.1016/0022-510x(93)90071-6. J Neurol Sci. 1993. PMID: 8468596

3

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia.

Silvestri G, Servidei S, Rana M, Ricci E, Spinazzola A, Paris E, Tonali P. Silvestri G, et al. Biochem Biophys Res Commun. 1996 Mar 27;220(3):623-7. doi: 10.1006/bbrc.1996.0453. Biochem Biophys Res Commun. 1996. PMID: 8607814

4

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation).

Silvestri G, Bertini E, Servidei S, Rana M, Zachara E, Ricci E, Tonali P. Silvestri G, et al. Muscle Nerve. 1997 Feb;20(2):221-5. doi: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5. Muscle Nerve. 1997. PMID: 9040662

5

Functional involvement of central nervous system in mitochondrial disorders.

Di Lazzaro V, Restuccia D, Servidei S, Valeriani M, Nardone R, Manfredi G, Silvestri G, Ricci E, Tonali P. Di Lazzaro V, et al. Among authors: silvestri g. Electroencephalogr Clin Neurophysiol. 1997 Jun;105(3):171-80. doi: 10.1016/s0924-980x(97)96671-6. Electroencephalogr Clin Neurophysiol. 1997. PMID: 9216485

6

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Ricci E, et al. Among authors: silvestri g. Ann Neurol. 1999 Jun;45(6):751-7. doi: 10.1002/1531-8249(199906)45:6<751::aid-ana9>3.0.co;2-m. Ann Neurol. 1999. PMID: 10360767

7

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene.

Broccolini A, Pescatori M, D'Amico A, Sabino A, Silvestri G, Ricci E, Servidei S, Tonali PA, Mirabella M. Broccolini A, et al. Among authors: silvestri g. Neurology. 2002 Dec 10;59(11):1808-9. doi: 10.1212/01.wnl.0000031808.04545.e0. Neurology. 2002. PMID: 12473780 No abstract available.

8

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M. Broccolini A, et al. Among authors: silvestri g. Hum Mutat. 2004 Jun;23(6):632. doi: 10.1002/humu.9252. Hum Mutat. 2004. PMID: 15146476

9

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy.

Modoni A, Mirabella M, Madia F, Sanna T, Lanza G, Tonali PA, Silvestri G. Modoni A, et al. Among authors: silvestri g. Neurology. 2007 Jan 9;68(2):161-2. doi: 10.1212/01.wnl.0000251194.82212.75. Neurology. 2007. PMID: 17210903 No abstract available.

10

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

Santoro M, Modoni A, Sabatelli M, Madia F, Piemonte F, Tozzi G, Ricci E, Tonali PA, Silvestri G. Santoro M, et al. Among authors: silvestri g. Mol Genet Metab. 2007 May;91(1):111-4. doi: 10.1016/j.ymgme.2006.12.004. Epub 2007 Jan 23. Mol Genet Metab. 2007. PMID: 17251047

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