Silvestri G - Search Results

1

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S. Silvestri G, et al. Hum Mutat. 1994;3(1):37-43. doi: 10.1002/humu.1380030107. Hum Mutat. 1994. PMID: 7906985

2

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Silvestri G, Moraes CT, Shanske S, Oh SJ, DiMauro S. Silvestri G, et al. Am J Hum Genet. 1992 Dec;51(6):1213-7. Am J Hum Genet. 1992. PMID: 1361099 Free PMC article.

3

MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Among authors: silvestri g. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140

4

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. Ciafaloni E, et al. Among authors: silvestri g. Neurology. 1991 Oct;41(10):1663-4. doi: 10.1212/wnl.41.10.1663. Neurology. 1991. PMID: 1922812 No abstract available.

5

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S, Tonali P. Servidei S, et al. Among authors: silvestri g. Neurology. 1991 Jul;41(7):1053-9. doi: 10.1212/wnl.41.7.1053. Neurology. 1991. PMID: 2067633

6

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF.

Calabresi PA, Silvestri G, DiMauro S, Griggs RC. Calabresi PA, et al. Among authors: silvestri g. Muscle Nerve. 1994 Aug;17(8):943-5. doi: 10.1002/mus.880170815. Muscle Nerve. 1994. PMID: 8041403

7

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Silvestri G, et al. Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200. Neurology. 1993. PMID: 8170567

8

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name.

Uncini A, Servidei S, Silvestri G, Manfredi G, Sabatelli M, Di Muzio A, Ricci E, Mirabella M, Di Mauro S, Tonali P. Uncini A, et al. Among authors: silvestri g. Muscle Nerve. 1994 Jun;17(6):667-74. doi: 10.1002/mus.880170616. Muscle Nerve. 1994. PMID: 8196710

9

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.

Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S. Moraes CT, et al. Among authors: silvestri g. Neuromuscul Disord. 1993 Jan;3(1):43-50. doi: 10.1016/0960-8966(93)90040-q. Neuromuscul Disord. 1993. PMID: 8392410

10

MELAS point mutation with unusual clinical presentation.

Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S. Shanske AL, et al. Among authors: silvestri g. Neuromuscul Disord. 1993 May;3(3):191-3. doi: 10.1016/0960-8966(93)90058-r. Neuromuscul Disord. 1993. PMID: 8400859

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