Bordoni A - Search Results

1

A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia.

Franceschina L, Salani S, Bordoni A, Sciacco M, Napoli L, Comi GP, Prelle A, Fortunato F, Hadjigeorgiou GM, Farina E, Bresolin N, D'Angelo MG, Scarlato G. Franceschina L, et al. Among authors: bordoni a. J Neurol. 1998 Nov;245(11):755-8. doi: 10.1007/s004150050283. J Neurol. 1998. PMID: 9808249 No abstract available.

2

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP. Napoli L, et al. Among authors: bordoni a. Neurology. 2001 Dec 26;57(12):2295-8. doi: 10.1212/wnl.57.12.2295. Neurology. 2001. PMID: 11756613

3

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

Sciacco M, Prelle A, D'Adda E, Lamperti C, Bordoni A, Rango M, Crimi M, Comi GP, Bresolin N, Moggio M. Sciacco M, et al. Among authors: bordoni a. J Neurol. 2003 Dec;250(12):1498-500. doi: 10.1007/s00415-003-0246-6. J Neurol. 2003. PMID: 14673588 No abstract available.

4

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Virgilio R, et al. Among authors: bordoni a. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575922

5

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, Rizzuti M, Sciacco M, Collotta M, Cagdas S, Capovilla G, Moggio M, Berardinelli A, Veggiotti P, Comi GP. Ronchi D, et al. Among authors: bordoni a. BMC Neurol. 2011 Jul 12;11:85. doi: 10.1186/1471-2377-11-85. BMC Neurol. 2011. PMID: 21749722 Free PMC article.

6

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G. Moroni I, et al. Among authors: bordoni a. J Neurol. 1995 Feb;242(3):127-33. doi: 10.1007/BF00936884. J Neurol. 1995. PMID: 7751854

7

Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

Bet L, Moggio M, Comi GP, Mariani C, Prelle A, Checcarelli N, Bordoni A, Bresolin N, Scarpini E, Scarlato G. Bet L, et al. Among authors: bordoni a. J Neurol. 1994 Jul;241(8):511-6. doi: 10.1007/BF00919714. J Neurol. 1994. PMID: 7964921

8

Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.

Fassati A, Bordoni A, Amboni P, Fortunato F, Fagiolari G, Bresolin N, Prelle A, Comi G, Scarlato G. Fassati A, et al. Among authors: bordoni a. J Neurol Sci. 1994 May;123(1-2):140-6. doi: 10.1016/0022-510x(94)90216-x. J Neurol Sci. 1994. PMID: 8064307

9

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW, Scarlato G. Comi GP, et al. Among authors: bordoni a. Ann Neurol. 1998 Jan;43(1):110-6. doi: 10.1002/ana.410430119. Ann Neurol. 1998. PMID: 9450776

10

Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.

Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L, Prelle A, Moggio M, Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis G, Divari R, Scarlato G. Papadimitriou A, et al. Among authors: bordoni a. Neurology. 1998 Oct;51(4):1086-92. doi: 10.1212/wnl.51.4.1086. Neurology. 1998. PMID: 9781534

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