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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. J Neurol. 2003 Dec;250(12):1498-500. doi: 10.1007/s00415-003-0246-6. J Neurol. 2003. PMID: 14673588 No abstract available.
New mutations in TK2 gene associated with mitochondrial DNA depletion.
Galbiati S, Bordoni A, Papadimitriou D, Toscano A, Rodolico C, Katsarou E, Sciacco M, Garufi A, Prelle A, Aguennouz M', Bonsignore M, Crimi M, Martinuzzi A, Bresolin N, Papadimitriou A, Comi GP. Galbiati S, et al. Pediatr Neurol. 2006 Mar;34(3):177-85. doi: 10.1016/j.pediatrneurol.2005.07.013. Pediatr Neurol. 2006. PMID: 16504786
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. 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
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. 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
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. Hum Mutat. 2003 Dec;22(6):498-9. doi: 10.1002/humu.9203. Hum Mutat. 2003. PMID: 14635118
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. Neurobiol Aging. 2003 Oct;24(6):829-38. doi: 10.1016/s0197-4580(02)00233-6. Neurobiol Aging. 2003. PMID: 12927765
The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects.
Del Bo R, Comi GP, Giorda R, Crimi M, Locatelli F, Martinelli-Boneschi F, Pozzoli U, Castelli E, Bresolin N, Scarlato G. Del Bo R, et al. J Neurol. 2003 Jun;250(6):688-92. doi: 10.1007/s00415-003-1057-5. J Neurol. 2003. PMID: 12796830
Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. ...However, we found a significantly faster rate of decline in intellec …
Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 h …
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. Neurology. 2003 Jun 10;60(11):1857-61. doi: 10.1212/01.wnl.0000066048.72780.69. Neurology. 2003. PMID: 12796552
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