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Page 1
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: achilli a. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.
Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli EL, Kivisild T, Bandelt HJ, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A. Achilli A, et al. Am J Hum Genet. 2004 Nov;75(5):910-8. doi: 10.1086/425590. Epub 2004 Sep 20. Am J Hum Genet. 2004. PMID: 15382008 Free PMC article.
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. 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.
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, Pellecchia MT, Stanzione P, Brusa L, Bentivoglio AR, Bonuccelli U, Petrozzi L, Abbruzzese G, Marchese R, Cortelli P, Grimaldi D, Martinelli P, Ferrarese C, Garavaglia B, Sangiorgi S, Carelli V, Torroni A, Albanese A, Zeviani M. Ghezzi D, et al. Among authors: achilli a. Eur J Hum Genet. 2005 Jun;13(6):748-52. doi: 10.1038/sj.ejhg.5201425. Eur J Hum Genet. 2005. PMID: 15827561 Free article.
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: achilli a. 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.
Harvesting the fruit of the human mtDNA tree.
Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ. Torroni A, et al. Among authors: achilli a. Trends Genet. 2006 Jun;22(6):339-45. doi: 10.1016/j.tig.2006.04.001. Epub 2006 May 4. Trends Genet. 2006. PMID: 16678300 Review.
187 results