Tonali P - Search Results

1

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

Silvestri G, Rana M, DiMuzio A, Uncini A, Tonali P, Servidei S. Silvestri G, et al. Among authors: tonali p. Neuromuscul Disord. 1998 Jun;8(5):291-5. doi: 10.1016/s0960-8966(98)00037-6. Neuromuscul Disord. 1998. PMID: 9673981

2

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions.

Odoardi F, Rana M, Broccolini A, Mirabella M, Modoni A, D'Amico A, Papacci M, Tonali P, Servidei S, Silvestri G. Odoardi F, et al. Among authors: tonali p. Am J Med Genet A. 2003 Apr 30;118A(3):247-54. doi: 10.1002/ajmg.a.20006. Am J Med Genet A. 2003. PMID: 12673655

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. Among authors: tonali p. 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. Among authors: tonali p. 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

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.

Mirabella M, Di Giovanni S, Silvestri G, Tonali P, Servidei S. Mirabella M, et al. Among authors: tonali p. Brain. 2000 Jan;123 ( Pt 1):93-104. doi: 10.1093/brain/123.1.93. Brain. 2000. PMID: 10611124

6

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

Silvestri G, Mongini T, Odoardi F, Modoni A, deRosa G, Doriguzzi C, Palmucci L, Tonali P, Servidei S. Silvestri G, et al. Among authors: tonali p. Neurology. 2000 Apr 25;54(8):1693-6. doi: 10.1212/wnl.54.8.1693. Neurology. 2000. PMID: 10762520

7

Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype.

Silvestri G, Rana M, Odoardi F, Modoni A, Paris E, Papacci M, Tonali P, Servidei S. Silvestri G, et al. Among authors: tonali p. Am J Med Genet. 2000 Sep 18;94(3):201-6. doi: 10.1002/1096-8628(20000918)94:3<201::aid-ajmg5>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10995506

8

Disorders associated with depletion of mitochondrial DNA.

Ricci E, Moraes CT, Servidei S, Tonali P, Bonilla E, DiMauro S. Ricci E, et al. Among authors: tonali p. Brain Pathol. 1992 Apr;2(2):141-7. doi: 10.1111/j.1750-3639.1992.tb00682.x. Brain Pathol. 1992. PMID: 1341955 Review.

9

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: tonali p. Muscle Nerve. 1994 Jun;17(6):667-74. doi: 10.1002/mus.880170616. Muscle Nerve. 1994. PMID: 8196710

10

Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy.

Mirabella M, Servidei S, Manfredi G, Ricci E, Frustaci A, Bertini E, Rana M, Tonali P. Mirabella M, et al. Among authors: tonali p. Neurology. 1993 Nov;43(11):2342-5. doi: 10.1212/wnl.43.11.2342. Neurology. 1993. PMID: 8232953

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