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Items: 1 to 20 of 33

1.

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans.

Achilli A, Olivieri A, Pala M, Metspalu E, Fornarino S, Battaglia V, Accetturo M, Kutuev I, Khusnutdinova E, Pennarun E, Cerutti N, Di Gaetano C, Crobu F, Palli D, Matullo G, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Semino O, Villems R, Bandelt HJ, Piazza A, Torroni A.

Am J Hum Genet. 2007 Apr;80(4):759-68. Epub 2007 Feb 6.

2.

Harvesting the fruit of the human mtDNA tree.

Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ.

Trends Genet. 2006 Jun;22(6):339-45. Epub 2006 May 4. Review.

PMID:
16678300
3.

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.

Am J Hum Genet. 2006 Apr;78(4):564-74. Epub 2006 Jan 27.

4.

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF.

Am J Hum Genet. 2005 Dec;77(6):1086-91. Epub 2005 Oct 11.

5.

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.

Eur J Hum Genet. 2005 Jun;13(6):748-52.

6.

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.

Am J Hum Genet. 2005 May;76(5):883-6. Epub 2005 Mar 24.

7.

Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III.

Dudkina NV, Eubel H, Keegstra W, Boekema EJ, Braun HP.

Proc Natl Acad Sci U S A. 2005 Mar 1;102(9):3225-9. Epub 2005 Feb 15.

8.

Significance of respirasomes for the assembly/stability of human respiratory chain complex I.

Schägger H, de Coo R, Bauer MF, Hofmann S, Godinot C, Brandt U.

J Biol Chem. 2004 Aug 27;279(35):36349-53. Epub 2004 Jun 18.

9.

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.

Yu-Wai-Man P, Howell N, Mackey DA, Nørby S, Rosenberg T, Turnbull DM, Chinnery PF.

J Med Genet. 2004 Apr;41(4):e41. No abstract available.

10.

Respiratory complex III is required to maintain complex I in mammalian mitochondria.

Acín-Pérez R, Bayona-Bafaluy MP, Fernández-Silva P, Moreno-Loshuertos R, Pérez-Martos A, Bruno C, Moraes CT, Enríquez JA.

Mol Cell. 2004 Mar 26;13(6):805-15.

11.

Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy.

Sadun F, De Negri AM, Carelli V, Salomao SR, Berezovsky A, Andrade R, Moraes M, Passos A, Belfort R, da Rosa AB, Quiros P, Sadun AA.

Am J Ophthalmol. 2004 Feb;137(2):271-7. Erratum in: Am J Ophthalmol. 2004 Apr;137(4):following 793.

PMID:
14962416
12.

Mitochondrial dysfunction as a cause of optic neuropathies.

Carelli V, Ross-Cisneros FN, Sadun AA.

Prog Retin Eye Res. 2004 Jan;23(1):53-89. Review.

PMID:
14766317
13.

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C.

Muscle Nerve. 2003 Oct;28(4):508-11.

PMID:
14506725
14.

Low penetrance of the 14484 LHON mutation when it arises in a non-haplogroup J mtDNA background.

Howell N, Herrnstadt C, Shults C, Mackey DA.

Am J Med Genet A. 2003 Jun 1;119A(2):147-51.

PMID:
12749053
15.

Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease.

van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, Hubble JP, Haines JL, Koller WC, Lyons K, Pahwa R, Stern MB, Colcher A, Hiner BC, Jankovic J, Ondo WG, Allen FH Jr, Goetz CG, Small GW, Mastaglia F, Stajich JM, McLaurin AC, Middleton LT, Scott BL, Schmechel DE, Pericak-Vance MA, Vance JM.

Am J Hum Genet. 2003 Apr;72(4):804-11. Epub 2003 Feb 28.

16.

The epidemiology of Leber hereditary optic neuropathy in the North East of England.

Y-W-Man P, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF.

Am J Hum Genet. 2003 Feb;72(2):333-9. Epub 2002 Jan 7.

17.

From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.

Newman NJ.

J Neuroophthalmol. 2002 Dec;22(4):257-61. Review. No abstract available.

PMID:
12464728
18.

Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.

Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N.

Am J Hum Genet. 2002 May;70(5):1152-71. Epub 2002 Apr 5. Erratum in: Am J Hum Genet 2002 Aug;71(2):448-9.

19.

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

Chinnery PF, Andrews RM, Turnbull DM, Howell NN.

Am J Med Genet. 2001 Jan 22;98(3):235-43.

PMID:
11169561
20.

A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.

Kerrison JB, Miller NR, Hsu F, Beaty TH, Maumenee IH, Smith KH, Savino PJ, Stone EM, Newman NJ.

Am J Ophthalmol. 2000 Dec;130(6):803-12.

PMID:
11124301

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