Bordoni A - Search Results

1

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

Crimi M, Galbiati S, Sciacco M, Bordoni A, Natali MG, Raimondi M, Bresolin N, Comi GP. Crimi M, et al. Among authors: bordoni a. Mitochondrion. 2004 Apr;3(5):279-83. doi: 10.1016/j.mito.2004.02.004. Mitochondrion. 2004. PMID: 16120360

2

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

Del Bo R, Bordoni A, Martinelli Boneschi F, Crimi M, Sciacco M, Bresolin N, Scarlato G, Comi GP. Del Bo R, et al. Among authors: bordoni a. J Neurol Sci. 2002 Oct 15;202(1-2):85-91. doi: 10.1016/s0022-510x(02)00247-2. J Neurol Sci. 2002. PMID: 12220698

3

A collection of 33 novel human mtDNA homoplasmic variants.

Crimi M, Sciacco M, Galbiati S, Bordoni A, Malferrari G, Del Bo R, Biunno I, Bresolin N, Comi GP. Crimi M, et al. Among authors: bordoni a. Hum Mutat. 2002 Nov;20(5):409. doi: 10.1002/humu.9079. Hum Mutat. 2002. PMID: 12402350

4

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP. Crimi M, et al. Among authors: bordoni a. Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69. Neurology. 2003. PMID: 12796552

5

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study.

Del Bo R, Crimi M, Sciacco M, Malferrari G, Bordoni A, Napoli L, Prelle A, Biunno I, Moggio M, Bresolin N, Scarlato G, Pietro Comi G. Del Bo R, et al. Among authors: bordoni a. Neurobiol Aging. 2003 Oct;24(6):829-38. doi: 10.1016/s0197-4580(02)00233-6. Neurobiol Aging. 2003. PMID: 12927765

6

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.

Crimi M, Del Bo R, Galbiati S, Sciacco M, Bordoni A, Bresolin N, Comi GP. Crimi M, et al. Among authors: bordoni a. Eur J Hum Genet. 2003 Nov;11(11):896-8. doi: 10.1038/sj.ejhg.5201056. Eur J Hum Genet. 2003. PMID: 14571278

7

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP. Di Fonzo A, et al. Among authors: bordoni a. Hum Mutat. 2003 Dec;22(6):498-9. doi: 10.1002/humu.9203. Hum Mutat. 2003. PMID: 14635118

8

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

Crimi M, Papadimitriou A, Galbiati S, Palamidou P, Fortunato F, Bordoni A, Papandreou U, Papadimitriou D, Hadjigeorgiou GM, Drogari E, Bresolin N, Comi GP. Crimi M, et al. Among authors: bordoni a. Pediatr Res. 2004 May;55(5):842-6. doi: 10.1203/01.PDR.0000117844.73436.68. Epub 2004 Feb 5. Pediatr Res. 2004. PMID: 14764913

9

Skeletal muscle gene expression profiling in mitochondrial disorders.

Crimi M, Bordoni A, Menozzi G, Riva L, Fortunato F, Galbiati S, Del Bo R, Pozzoli U, Bresolin N, Comi GP. Crimi M, et al. Among authors: bordoni a. FASEB J. 2005 May;19(7):866-8. doi: 10.1096/fj.04-3045fje. Epub 2005 Feb 23. FASEB J. 2005. PMID: 15728662

10

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.

Sciacco M, Prelle A, Fagiolari G, Bordoni A, Crimi M, Di Fonzo A, Ciscato P, Lamperti C, D'Adda E, Jann S, Bresolin N, Comi GP, Moggio M. Sciacco M, et al. Among authors: bordoni a. J Neurol Sci. 2005 Dec 15;239(1):21-4. doi: 10.1016/j.jns.2005.07.008. Epub 2005 Sep 15. J Neurol Sci. 2005. PMID: 16168441

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