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Page 1
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Achilli A, et al. Among authors: pala m. PLoS One. 2012;7(8):e42242. doi: 10.1371/journal.pone.0042242. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879922 Free PMC article.
Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.
La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. La Morgia C, et al. Among authors: pala m. Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0. Epub 2008 Jan 23. Neurology. 2008. PMID: 18216301
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A. Carelli V, et al. Among authors: pala m. Am J Hum Genet. 2006 Apr;78(4):564-74. doi: 10.1086/501236. Epub 2006 Jan 27. Am J Hum Genet. 2006. PMID: 16532388 Free PMC article.
The multifaceted origin of taurine cattle reflected by the mitochondrial genome.
Achilli A, Bonfiglio S, Olivieri A, Malusà A, Pala M, Hooshiar Kashani B, Perego UA, Ajmone-Marsan P, Liotta L, Semino O, Bandelt HJ, Ferretti L, Torroni A. Achilli A, et al. Among authors: pala m. PLoS One. 2009 Jun 1;4(6):e5753. doi: 10.1371/journal.pone.0005753. PLoS One. 2009. PMID: 19484124 Free PMC article.
Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole.
Achilli A, Olivieri A, Pala M, Hooshiar Kashani B, Carossa V, Perego UA, Gandini F, Santoro A, Battaglia V, Grugni V, Lancioni H, Sirolla C, Bonfigli AR, Cormio A, Boemi M, Testa I, Semino O, Ceriello A, Spazzafumo L, Gadaleta MN, Marra M, Testa R, Franceschi C, Torroni A. Achilli A, et al. Among authors: pala m. PLoS One. 2011;6(6):e21029. doi: 10.1371/journal.pone.0021029. Epub 2011 Jun 9. PLoS One. 2011. PMID: 21695278 Free PMC article.
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Caporali L, et al. Among authors: pala m. Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14. Biochim Biophys Acta. 2013. PMID: 23246842 Free PMC article.
Mitogenomes from two uncommon haplogroups mark late glacial/postglacial expansions from the near east and neolithic dispersals within Europe.
Olivieri A, Pala M, Gandini F, Hooshiar Kashani B, Perego UA, Woodward SR, Grugni V, Battaglia V, Semino O, Achilli A, Richards MB, Torroni A. Olivieri A, et al. Among authors: pala m. PLoS One. 2013 Jul 31;8(7):e70492. doi: 10.1371/journal.pone.0070492. Print 2013. PLoS One. 2013. PMID: 23936216 Free PMC article.
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
Carossa V, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, La Morgia C, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, De Nardo V, Rugolo M, Ferretti L, Gandini F, Pala M, Achilli A, Olivieri A, Torroni A, Carelli V. Carossa V, et al. Among authors: pala m. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
Saami and Berbers--an unexpected mitochondrial DNA link.
Achilli A, Rengo C, Battaglia V, Pala M, Olivieri A, Fornarino S, Magri C, Scozzari R, Babudri N, Santachiara-Benerecetti AS, Bandelt HJ, Semino O, Torroni A. Achilli A, et al. Among authors: pala m. Am J Hum Genet. 2005 May;76(5):883-6. doi: 10.1086/430073. Epub 2005 Mar 24. Am J Hum Genet. 2005. PMID: 15791543 Free PMC article.
307 results