-
1
-
-
20244384729
-
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 (2005) Saami and Berbers-an unexpected mitochondrial DNA link. Am J Hum Genet 76:883-886
-
(2005)
Am J Hum Genet
, vol.76
, pp. 883-886
-
-
Achilli, A.1
Rengo, C.2
Battaglia, V.3
Pala, M.4
Olivieri, A.5
Fornarino, S.6
Magri, C.7
Scozzari, R.8
Babudri, N.9
Santachiara-Benerecetti, A.S.10
Bandelt, H.J.11
Semino, O.12
Torroni, A.13
-
2
-
-
6344223665
-
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, Crucian! F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon J-M, Roostalu U, Loogväli E-L, Kivisild T, Bandelt H-J, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910-918
-
(2004)
Am J Hum Genet
, vol.75
, pp. 910-918
-
-
Achilli, A.1
Rengo, C.2
Magri, C.3
Battaglia, V.4
Olivieri, A.5
Scozzari, R.6
Crucian, F.7
Zeviani, M.8
Briem, E.9
Carelli, V.10
Moral, P.11
Dugoujon, J.-M.12
Roostalu, U.13
Loogväli, E.-L.14
Kivisild, T.15
Bandelt, H.-J.16
Richards, M.17
Villems, R.18
Santachiara-Benerecetti, A.S.19
Semino, O.20
Torroni, A.21
more..
-
3
-
-
12144291508
-
Respiratory complex III is required to maintain complex I in mammalian mitochondria
-
Acin-Perez R, Bayona-Bafaluy MP, Fernandez-Silva P, Moreno-Loshuertos R, Perez-Martos A, Bruno C, Moraes CT, Enriquez JA (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol Cell 13:805-815
-
(2004)
Mol Cell
, vol.13
, pp. 805-815
-
-
Acin-Perez, R.1
Bayona-Bafaluy, M.P.2
Fernandez-Silva, P.3
Moreno-Loshuertos, R.4
Perez-Martos, A.5
Bruno, C.6
Moraes, C.T.7
Enriquez, J.A.8
-
4
-
-
0032868141
-
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
-
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147
-
(1999)
Nat Genet
, vol.23
, pp. 147
-
-
Andrews, R.M.1
Kubacka, I.2
Chinnery, P.F.3
Lightowlers, R.N.4
Turnbull, D.M.5
Howell, N.6
-
5
-
-
2942750228
-
Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia
-
Autere J, Moilanen JS, Finnila S, Soininen H, Mannermaa A, Hartikainen P, Hallikainen M, Majamaa K (2004) Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. Hum Genet 115:29-35
-
(2004)
Hum Genet
, vol.115
, pp. 29-35
-
-
Autere, J.1
Moilanen, J.S.2
Finnila, S.3
Soininen, H.4
Mannermaa, A.5
Hartikainen, P.6
Hallikainen, M.7
Majamaa, K.8
-
6
-
-
0031034482
-
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
-
Brown MD, Sun F, Wallace DC (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60:381-387
-
(1997)
Am J Hum Genet
, vol.60
, pp. 381-387
-
-
Brown, M.D.1
Sun, F.2
Wallace, D.C.3
-
7
-
-
18744426519
-
Leber's hereditary optic neuropathy: Biochemical effect of the 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype
-
Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M (1997) Leber's hereditary optic neuropathy: biochemical effect of the 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology 48:1623-1632
-
(1997)
Neurology
, vol.48
, pp. 1623-1632
-
-
Carelli, V.1
Ghelli, A.2
Ratta, M.3
Bacchilega, E.4
Sangiorgi, S.5
Mancini, R.6
Leuzzi, V.7
Cortelli, P.8
Montagna, P.9
Lugaresi, E.10
Degli Esposti, M.11
-
9
-
-
11044238456
-
Heterologous mitochondrial DNA recombination in human cells
-
D'Aurelio M, Gajewski CD, Lin MT, Mauck WM, Shao LZ, Lenaz G, Moraes CT, Manfredi G (2004) Heterologous mitochondrial DNA recombination in human cells. Hum Mol Genet 13:3171-3179
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3171-3179
-
-
D'Aurelio, M.1
Gajewski, C.D.2
Lin, M.T.3
Mauck, W.M.4
Shao, L.Z.5
Lenaz, G.6
Moraes, C.T.7
Manfredi, G.8
-
10
-
-
0032851615
-
Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans
-
De Benedictis G, Rose G, Carrieri G, De Luca M, Falcone E, Passarino G, Bonafe M, Monti D, Baggio G, Bertolini S, Mari D, Mattace R, Franceschi C (1999) Mitochondrial DNA inherited variants are associated with successful aging and longevity in humans. FASEB J 13:1532-1536
-
(1999)
FASEB J
, vol.13
, pp. 1532-1536
-
-
De Benedictis, G.1
Rose, G.2
Carrieri, G.3
De Luca, M.4
Falcone, E.5
Passarino, G.6
Bonafe, M.7
Monti, D.8
Baggio, G.9
Bertolini, S.10
Mari, D.11
Mattace, R.12
Franceschi, C.13
-
11
-
-
14744270722
-
Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III
-
Dudkina NV, Eubel H, Keegstra W, Boekema EJ, Braun HP (2005) Structure of a mitochondrial supercomplex formed by respiratory-chain complexes I and III. Proc Natl Acad Sci USA 102:3225-3229
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 3225-3229
-
-
Dudkina, N.V.1
Eubel, H.2
Keegstra, W.3
Boekema, E.J.4
Braun, H.P.5
-
12
-
-
20544461885
-
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 (2005) Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet 13:748-752
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 748-752
-
-
Ghezzi, D.1
Marelli, C.2
Achilli, A.3
Goldwurm, S.4
Pezzoli, G.5
Barone, P.6
Pellecchia, M.T.7
Stanzione, P.8
Brusa, L.9
Bentivoglio, A.R.10
Bonuccelli, U.11
Petrozzi, L.12
Abbruzzese, G.13
Marchese, R.14
Cortelli, P.15
Grimaldi, D.16
Martinelli, P.17
Ferrarese, C.18
Garavaglia, B.19
Sangiorgi, S.20
Carelli, V.21
Torroni, A.22
Albanese, A.23
Zeviani, M.24
more..
-
13
-
-
0030813676
-
Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease
-
Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, Gerbitz KD (1997) Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 6:1835-1846
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1835-1846
-
-
Hofmann, S.1
Jaksch, M.2
Bezold, R.3
Mertens, S.4
Aholt, S.5
Paprotta, A.6
Gerbitz, K.D.7
-
14
-
-
2342572779
-
Leber's hereditary optic neuropathy: The spectrum of mitochondrial DNA mutations in Iranian patients
-
Houshmand M, Sharifpanah F, Tabasi A, Sanati MH, Vakilian M, Lavasani SH, Joughehdoust S (2004) Leber's hereditary optic neuropathy: the spectrum of mitochondrial DNA mutations in Iranian patients. Ann N Y Acad Sci 1011:345-349
-
(2004)
Ann N Y Acad Sci
, vol.1011
, pp. 345-349
-
-
Houshmand, M.1
Sharifpanah, F.2
Tabasi, A.3
Sanati, M.H.4
Vakilian, M.5
Lavasani, S.H.6
Joughehdoust, S.7
-
15
-
-
26444610665
-
DNA mutations and common neurodegenerative disorders
-
Howell N, Elson JL, Chinnery, PF, Turnbull, DM (2005) mtDNA mutations and common neurodegenerative disorders. Trends Genet 21:583-586
-
(2005)
Trends Genet
, vol.21
, pp. 583-586
-
-
Howell, N.1
Elson, J.L.2
Chinnery, P.F.3
Turnbull, D.M.4
-
16
-
-
0037677723
-
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy
-
Howell N, Oostra R-J, Bolhuis PA, Spruijt L, Clarke LA, Mackey DA, Preston G, Herrnstadt C (2003) Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 72:1460-1469
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1460-1469
-
-
Howell, N.1
Oostra, R.-J.2
Bolhuis, P.A.3
Spruijt, L.4
Clarke, L.A.5
Mackey, D.A.6
Preston, G.7
Herrnstadt, C.8
-
17
-
-
33645468662
-
The role of selection in the evolution of human mitochondrial genomes
-
Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis KK, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knjiff P, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2005) The role of selection in the evolution of human mitochondrial genomes. Genetics (http://www.genetics.org/cgi/ rapidpdf/genetics.105 .043901v1) (electronically published September 19, 2005; accessed January 20, 2006)
-
(2005)
Genetics
-
-
Kivisild, T.1
Shen, P.2
Wall, D.P.3
Do, B.4
Sung, R.5
Davis, K.K.6
Passarino, G.7
Underhill, P.A.8
Scharfe, C.9
Torroni, A.10
Scozzari, R.11
Modiano, D.12
Coppa, A.13
De Knjiff, P.14
Feldman, M.W.15
Cavalli-Sforza, L.L.16
Oefner, P.J.17
-
18
-
-
2442609784
-
Recombination of human mitochondrial DNA
-
Kraytsberg Y, Schwartz M, Brown TA, Ebralidse K, Kunz WS, Clayton DA, Vissing J, Khrapko K (2004) Recombination of human mitochondrial DNA. Science 304:981
-
(2004)
Science
, vol.304
, pp. 981
-
-
Kraytsberg, Y.1
Schwartz, M.2
Brown, T.A.3
Ebralidse, K.4
Kunz, W.S.5
Clayton, D.A.6
Vissing, J.7
Khrapko, K.8
-
19
-
-
22544440855
-
A "fille du roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians
-
Laberge A-M, Jomphe M, Houde L, Vézina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B (2005) A "fille du roy" introduced the T14484C Leber hereditary optic neuropathy mutation in French Canadians. Am J Hum Genet 77:313-317
-
(2005)
Am J Hum Genet
, vol.77
, pp. 313-317
-
-
Laberge, A.-M.1
Jomphe, M.2
Houde, L.3
Vézina, H.4
Tremblay, M.5
Desjardins, B.6
Labuda, D.7
St-Hilaire, M.8
Macmillan, C.9
Shoubridge, E.A.10
Brais, B.11
-
20
-
-
0030786039
-
mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuroretinopathy
-
Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus ML (1997) mtDNA haplotype analysis in Finnish families with Leber hereditary optic neuroretinopathy. Eur J Hum Genet 5:271-279
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 271-279
-
-
Lamminen, T.1
Huoponen, K.2
Sistonen, P.3
Juvonen, V.4
Lahermo, P.5
Aula, P.6
Nikoskelainen, E.7
Savontaus, M.L.8
-
21
-
-
0036259160
-
Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy
-
Lodi R, Carelli V, Cortelli P, Iotti S, Valentino ML, Barboni P, Pallotti F, Montagna P, Barbiroli B (2002) Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 72:805-807
-
(2002)
J Neurol Neurosurg Psychiatry
, vol.72
, pp. 805-807
-
-
Lodi, R.1
Carelli, V.2
Cortelli, P.3
Iotti, S.4
Valentino, M.L.5
Barboni, P.6
Pallotti, F.7
Montagna, P.8
Barbiroli, B.9
-
22
-
-
0033847638
-
Secondary 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation
-
Lodi R, Montagna P, Cortelli P, Iotti S, Cevoli S, Carelli V, Barbiroli B (2000) Secondary 4216/ND1 and 13708/ND5 Leber's hereditary optic neuropathy mitochondrial DNA mutations do not further impair in vivo mitochondrial oxidative metabolism when associated with the 11778/ND4 mitochondrial DNA mutation. Brain 123:1896-1902
-
(2000)
Brain
, vol.123
, pp. 1896-1902
-
-
Lodi, R.1
Montagna, P.2
Cortelli, P.3
Iotti, S.4
Cevoli, S.5
Carelli, V.6
Barbiroli, B.7
-
23
-
-
20844445609
-
Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes
-
Macaulay V, Hill C, Achilli A, Rengo C, Clarke D, Meehan W, Blackburn J, Semino O, Scozzari R, Cruciani F, Taha A, Shaari NK, Raja JM, Ismail P, Zainuddin Z, Goodwin W, Bulbeck D, Bandelt HJ, Oppenheimer S, Torroni A, Richards M (2005) Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science 308:1034-1036
-
(2005)
Science
, vol.308
, pp. 1034-1036
-
-
Macaulay, V.1
Hill, C.2
Achilli, A.3
Rengo, C.4
Clarke, D.5
Meehan, W.6
Blackburn, J.7
Semino, O.8
Scozzari, R.9
Cruciani, F.10
Taha, A.11
Shaari, N.K.12
Raja, J.M.13
Ismail, P.14
Zainuddin, Z.15
Goodwin, W.16
Bulbeck, D.17
Bandelt, H.J.18
Oppenheimer, S.19
Torroni, A.20
Richards, M.21
more..
-
24
-
-
0033925115
-
Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect
-
Macmillan C, Johns TA, Fu K, Shoubridge EA (2000) Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect. Am J Hum Genet 66:332-335
-
(2000)
Am J Hum Genet
, vol.66
, pp. 332-335
-
-
Macmillan, C.1
Johns, T.A.2
Fu, K.3
Shoubridge, E.A.4
-
25
-
-
0032497128
-
Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine
-
Majamaa K, Finnila S, Turkka J, Hassinen IE (1998) Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine. Lancet 352:455-456
-
(1998)
Lancet
, vol.352
, pp. 455-456
-
-
Majamaa, K.1
Finnila, S.2
Turkka, J.3
Hassinen, I.E.4
-
26
-
-
2342540462
-
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
-
Man PY, Howell N, Mackey DA, Norby S, Rosenberg T, Turnbull DM, Chinnery PF (2004) Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. J Med Genet 41:e41
-
(2004)
J Med Genet
, vol.41
-
-
Man, P.Y.1
Howell, N.2
Mackey, D.A.3
Norby, S.4
Rosenberg, T.5
Turnbull, D.M.6
Chinnery, P.F.7
-
27
-
-
7944219894
-
Mitochondrial DNA 3644T→C mutation associated with bipolar disorder
-
Munakata K, Tanaka M, Mori K, Washizuka S, Yoneda M, Tajima O, Akiyama T, Nanko S, Kunugi H, Tadokoro K, Ozaki N, Inada T, Sakamoto K, Fukunaga T, Iijima Y, Iwata N, Tatsumi M, Yamada K, Yoshikawa T, Kato T (2004) Mitochondrial DNA 3644T→C mutation associated with bipolar disorder. Genomics 84:1041-1050
-
(2004)
Genomics
, vol.84
, pp. 1041-1050
-
-
Munakata, K.1
Tanaka, M.2
Mori, K.3
Washizuka, S.4
Yoneda, M.5
Tajima, O.6
Akiyama, T.7
Nanko, S.8
Kunugi, H.9
Tadokoro, K.10
Ozaki, N.11
Inada, T.12
Sakamoto, K.13
Fukunaga, T.14
Iijima, Y.15
Iwata, N.16
Tatsumi, M.17
Yamada, K.18
Yoshikawa, T.19
Kato, T.20
more..
-
28
-
-
33645466437
-
Leber's optic neuropathy
-
Miller NR, Newman NJ, Biousse V, Kerrison JB (eds). Williams & Wilkins, Baltimore
-
Newman NJ (2005) Leber's optic neuropathy. In: Miller NR, Newman NJ, Biousse V, Kerrison JB (eds) Walsh and Hoyt's clinical neuroophthalmology. Williams & Wilkins, Baltimore, pp 466-476
-
(2005)
Walsh and Hoyt's Clinical Neuroophthalmology
, pp. 466-476
-
-
Newman, N.J.1
-
29
-
-
0037209210
-
Mitochondrial DNA polymorphisms associated with longevity in a Finnish population
-
Niemi AK, Hervonen A, Hurme M, Karhunen PJ, Jylha M, Majamaa K (2003) Mitochondrial DNA polymorphisms associated with longevity in a Finnish population. Hum Genet 112:29-33
-
(2003)
Hum Genet
, vol.112
, pp. 29-33
-
-
Niemi, A.K.1
Hervonen, A.2
Hurme, M.3
Karhunen, P.J.4
Jylha, M.5
Majamaa, K.6
-
30
-
-
23644445367
-
Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes
-
Niemi AK, Majamaa K (2005) Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet 13:965-969
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 965-969
-
-
Niemi, A.K.1
Majamaa, K.2
-
31
-
-
8844274059
-
Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: Implications for the peopling of South Asia
-
Palanichamy Mg, Sun C, Agrawal S, Bandelt H-J, Kong Q-P, Khan F, Wang C-Y, Chaudhuri TK, Palla V, Zhang Y-P (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 75:966-978
-
(2004)
Am J Hum Genet
, vol.75
, pp. 966-978
-
-
Palanichamy, Mg.1
Sun, C.2
Agrawal, S.3
Bandelt, H.-J.4
Kong, Q.-P.5
Khan, F.6
Wang, C.-Y.7
Chaudhuri, T.K.8
Palla, V.9
Zhang, Y.-P.10
-
32
-
-
20144389920
-
Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD
-
Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J, Lewis SJ, Perry RH, Barker R, Burn DJ, Chinnery PF (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 57:564-567
-
(2005)
Ann Neurol
, vol.57
, pp. 564-567
-
-
Pyle, A.1
Foltynie, T.2
Tiangyou, W.3
Lambert, C.4
Keers, S.M.5
Allcock, L.M.6
Davison, J.7
Lewis, S.J.8
Perry, R.H.9
Barker, R.10
Burn, D.J.11
Chinnery, P.F.12
-
33
-
-
2342575654
-
Where West meets East: The complex mtDNA landscape of the southwest and central Asian corridor
-
Quintana-Murci L, Chaix R, Wells RS, Behar DM, Sayar H, Scozzari R, Rengo C, Al-Zahery N, Semino O, Santachiara-Benerecetti AS, Coppa A, Ayub Q, Mohyuddin A, Tyler-Smith C, Qasim Mehdi S, Torroni A, McElreavey K (2004) Where West meets East: the complex mtDNA landscape of the southwest and central Asian corridor. Am J Hum Genet 74:827-845
-
(2004)
Am J Hum Genet
, vol.74
, pp. 827-845
-
-
Quintana-Murci, L.1
Chaix, R.2
Wells, R.S.3
Behar, D.M.4
Sayar, H.5
Scozzari, R.6
Rengo, C.7
Al-Zahery, N.8
Semino, O.9
Santachiara-Benerecetti, A.S.10
Coppa, A.11
Ayub, Q.12
Mohyuddin, A.13
Tyler-Smith, C.14
Qasim Mehdi, S.15
Torroni, A.16
McElreavey, K.17
-
34
-
-
0032904495
-
mtDNA haplogroup J: A contributing factor of optic neuritis
-
Reynier P, Penisson-Besnier I, Moreau C, Savagner F, Vielle B, Emile J, Dubas F, Malthiery Y (1999) mtDNA haplogroup J: a contributing factor of optic neuritis. Eur J Hum Genet 7:404-406
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 404-406
-
-
Reynier, P.1
Penisson-Besnier, I.2
Moreau, C.3
Savagner, F.4
Vielle, B.5
Emile, J.6
Dubas, F.7
Malthiery, Y.8
-
35
-
-
0034973482
-
Mitochondrial DNA polymorphism: Its role in longevity of the Irish population
-
Ross OA, McCormack R, Curran MD, Duguid RA, Barnett YA, Rea IM, Middleton D (2001) Mitochondrial DNA polymorphism: its role in longevity of the Irish population. Exp Gerontol 36:1161-1178
-
(2001)
Exp Gerontol
, vol.36
, pp. 1161-1178
-
-
Ross, O.A.1
McCormack, R.2
Curran, M.D.3
Duguid, R.A.4
Barnett, Y.A.5
Rea, I.M.6
Middleton, D.7
-
36
-
-
0037380725
-
mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish
-
Ross OA, McCormack R, Maxwell LD, Duguid RA, Quinn DJ, Barnett YA, Rea IM, El-Agnaf OM, Gibson JM, Wallace A, Middleton D, Curran MD (2003) mt4216C variant in linkage with the mtDNA TJ cluster may confer a susceptibility to mitochondrial dysfunction resulting in an increased risk of Parkinson's disease in the Irish. Exp Gerontol 38:397-405
-
(2003)
Exp Gerontol
, vol.38
, pp. 397-405
-
-
Ross, O.A.1
McCormack, R.2
Maxwell, L.D.3
Duguid, R.A.4
Quinn, D.J.5
Barnett, Y.A.6
Rea, I.M.7
El-Agnaf, O.M.8
Gibson, J.M.9
Wallace, A.10
Middleton, D.11
Curran, M.D.12
-
37
-
-
0033842465
-
Human mtDNA haplogroups associated with high or reduced spermatozoa motility
-
Ruiz-Pesini E, Lapeña AC, Diez-Sánchez C, Pérez-Martos A, Montoya J, Alvarez E, Diaz M, Urriés A, Montoro L, López-Pérez MJ, Enriquez JA (2000) Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet 67:682-696
-
(2000)
Am J Hum Genet
, vol.67
, pp. 682-696
-
-
Ruiz-Pesini, E.1
Lapeña, A.C.2
Diez-Sánchez, C.3
Pérez-Martos, A.4
Montoya, J.5
Alvarez, E.6
Diaz, M.7
Urriés, A.8
Montoro, L.9
López-Pérez, M.J.10
Enriquez, J.A.11
-
38
-
-
0042850443
-
Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy
-
Sadun AA, Carelli V, Salomao SR, Berezovsky A, Quiros PA, Sadun F, DeNegri AM, Andrade R, Moraes M, Passos A, Kjaer P, Pereira J, Valentino ML, Schein S, Belfort R (2003) Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 136:231-238
-
(2003)
Am J Ophthalmol
, vol.136
, pp. 231-238
-
-
Sadun, A.A.1
Carelli, V.2
Salomao, S.R.3
Berezovsky, A.4
Quiros, P.A.5
Sadun, F.6
Denegri, A.M.7
Andrade, R.8
Moraes, M.9
Passos, A.10
Kjaer, P.11
Pereira, J.12
Valentino, M.L.13
Schein, S.14
Belfort, R.15
-
39
-
-
10744227920
-
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, Bastos Da Rosa A, Quiros P, Sadun AA (2004) Ophthalmologic findings in a large pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol 137:271-277
-
(2004)
Am J Ophthalmol
, vol.137
, pp. 271-277
-
-
Sadun, F.1
De Negri, A.M.2
Carelli, V.3
Salomao, S.R.4
Berezovsky, A.5
Andrade, R.6
Moraes, M.7
Passos, A.8
Belfort, R.9
Bastos Da Rosa, A.10
Quiros, P.11
Sadun, A.A.12
-
40
-
-
4344672593
-
Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy
-
Salomao SR, Berezovsky A, Andrade RE, Belfort R, Carelli V, Sadun AA (2004) Visual electrophysiologic findings in patients from an extensive Brazilian family with Leber's hereditary optic neuropathy. Doc Ophthalmol 108:147-155
-
(2004)
Doc Ophthalmol
, vol.108
, pp. 147-155
-
-
Salomao, S.R.1
Berezovsky, A.2
Andrade, R.E.3
Belfort, R.4
Carelli, V.5
Sadun, A.A.6
-
41
-
-
0345701481
-
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation
-
Torroni A, Campos Y, Rengo C, Sellitto D, Achilli A, Magri C, Semino O, Garcia A, Jara P, Arenas J, Scozzari R (2003) Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet 72:1005-1012
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1005-1012
-
-
Torroni, A.1
Campos, Y.2
Rengo, C.3
Sellitto, D.4
Achilli, A.5
Magri, C.6
Semino, O.7
Garcia, A.8
Jara, P.9
Arenas, J.10
Scozzari, R.11
-
42
-
-
16944363113
-
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
-
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107-1121
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1107-1121
-
-
Torroni, A.1
Petrozzi, M.2
D'Urbano, L.3
Sellitto, D.4
Zeviani, M.5
Carrara, F.6
Carducci, C.7
Leuzzi, V.8
Carelli, V.9
Barboni, P.10
De Negri, A.11
Scozzari, R.12
-
43
-
-
0035205417
-
Do the four clades of the mtDNA haplogroup L2 evolve at different rates?
-
Torroni A, Rengo C, Guida V, Cruciani E, Sellitto D, Coppa A, Calderon FL, Simionati B, Valle G, Richards M, Macaulay V, Scozzari R (2001) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348-1356
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1348-1356
-
-
Torroni, A.1
Rengo, C.2
Guida, V.3
Cruciani, E.4
Sellitto, D.5
Coppa, A.6
Calderon, F.L.7
Simionati, B.8
Valle, G.9
Richards, M.10
Macaulay, V.11
Scozzari, R.12
-
44
-
-
0028332916
-
Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance
-
Torroni A, Wallace DC (1994) Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr 26:261-271
-
(1994)
J Bioenerg Biomembr
, vol.26
, pp. 261-271
-
-
Torroni, A.1
Wallace, D.C.2
-
45
-
-
0036260961
-
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
-
Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V (2002) Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann Neurol 51:774-778
-
(2002)
Ann Neurol
, vol.51
, pp. 774-778
-
-
Valentino, M.L.1
Avoni, P.2
Barboni, P.3
Pallotti, F.4
Rengo, C.5
Torroni, A.6
Bellan, M.7
Baruzzi, A.8
Carelli, V.9
-
46
-
-
0037385480
-
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, et al (2003) Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 72:804-811
-
(2003)
Am J Hum Genet
, vol.72
, pp. 804-811
-
-
Van Der Walt, J.M.1
Nicodemus, K.K.2
Martin, E.R.3
Scott, W.K.4
Nance, M.A.5
Watts, R.L.6
Hubble, J.P.7
-
47
-
-
0029118005
-
MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells
-
Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, Carrozzo R, Angelini C, Lugaresi E (1995) MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun 210:880-888
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 880-888
-
-
Vergani, L.1
Martinuzzi, A.2
Carelli, V.3
Cortelli, P.4
Montagna, P.5
Schievano, G.6
Carrozzo, R.7
Angelini, C.8
Lugaresi, E.9
-
48
-
-
23844558266
-
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
-
Wallace DC (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39:359-407
-
(2005)
Annu Rev Genet
, vol.39
, pp. 359-407
-
-
Wallace, D.C.1
-
49
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK (1988) Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242:1427-1430
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
Singh, G.2
Lott, M.T.3
Hodge, J.A.4
Schurr, T.G.5
Lezza, A.M.6
Elsas, L.J.7
Nikoskelainen, E.K.8
-
50
-
-
7244251717
-
Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome
-
Wang Q, Ito M, Adams K, Li BU, Klopstock T, Maslim A, Higashimoto T, Herzog J, Boles RG (2004) Mitochondrial DNA control region sequence variation in migraine headache and cyclic vomiting syndrome. Am J Med Genet A 131:50-58
-
(2004)
Am J Med Genet A
, vol.131
, pp. 50-58
-
-
Wang, Q.1
Ito, M.2
Adams, K.3
Li, B.U.4
Klopstock, T.5
Maslim, A.6
Higashimoto, T.7
Herzog, J.8
Boles, R.G.9
-
51
-
-
23044500257
-
Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy
-
Zsurka G, Kraytsberg Y, Kudina T, Kornblum C, Elger CE, Khrapko K, Kunz WS (2005) Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy. Nat Genet 37:873-877
-
(2005)
Nat Genet
, vol.37
, pp. 873-877
-
-
Zsurka, G.1
Kraytsberg, Y.2
Kudina, T.3
Kornblum, C.4
Elger, C.E.5
Khrapko, K.6
Kunz, W.S.7
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