-
1
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
-
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339:309-11.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
DiMauro, S.5
DiDonato, S.6
-
2
-
-
0034951975
-
Diseases caused by nuclear genes affecting mtDNA stability
-
Suomalainen A, Kaukonen J. Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet 2001; 106:53-61.
-
(2001)
Am J Med Genet
, vol.106
, pp. 53-61
-
-
Suomalainen, A.1
Kaukonen, J.2
-
3
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase gamma are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M. Mutations of mitochondrial DNA polymerase gamma are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 2002; 52:211-9.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
Toscano, A.4
Bono, F.5
Servidei, S.6
Papadimitriou, A.7
Spelbrink, H.8
Silvestri, L.9
Casari, G.10
Comi, G.P.11
Zeviani, M.12
-
4
-
-
0034604506
-
Role of adenine nucteotide translocator 1 in mtDNA maintenance
-
Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucteotide translocator 1 in mtDNA maintenance. Science 2000; 289:782-5.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
5
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28:211-2.
-
(2001)
Nat Genet
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
Van Broeckhoven, C.5
-
6
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 2001; 28:223-31.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
7
-
-
0035956482
-
ANT1, Twinkle, POLG, and TP: New genes open our eyes to ophthalmoplegia
-
Hirano M, DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001; 57:2163-5.
-
(2001)
Neurology
, vol.57
, pp. 2163-2165
-
-
Hirano, M.1
DiMauro, S.2
-
8
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
-
Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999; 283:689-92.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
9
-
-
0037105957
-
Clinical and molecular features of adPEO due to mutations in the Twinkle gene
-
Lewis S, Hutchison W, Thyagarajan D, Dahl HH. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. J Neurot Sci 2002; 201:39-44.
-
(2002)
J Neurot Sci
, vol.201
, pp. 39-44
-
-
Lewis, S.1
Hutchison, W.2
Thyagarajan, D.3
Dahl, H.H.4
-
10
-
-
37849003416
-
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
-
Sarzi E, Goffart S, Serre V, Chretien D, Slama A, Munnich A, Spelbrink JN, Rotig A. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol 2007; 62:579-87.
-
(2007)
Ann Neurol
, vol.62
, pp. 579-587
-
-
Sarzi, E.1
Goffart, S.2
Serre, V.3
Chretien, D.4
Slama, A.5
Munnich, A.6
Spelbrink, J.N.7
Rotig, A.8
-
11
-
-
3442880816
-
Two families with autosomal dominant progressive external ophthalmoplegia
-
Kiechl S, Horváth R, Luoma P, Kiechl-Kohlendorfer U, Wallacher-Scholz B, Stucka R, Thaler C, Wanschitz J, Suomalainen A, Jaksch M, Willeit J. Two families with autosomal dominant progressive external ophthalmoplegia. J Neurol Neurosurg Psychiatry 2004; 75:1125-8.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1125-1128
-
-
Kiechl, S.1
Horváth, R.2
Luoma, P.3
Kiechl-Kohlendorfer, U.4
Wallacher-Scholz, B.5
Stucka, R.6
Thaler, C.7
Wanschitz, J.8
Suomalainen, A.9
Jaksch, M.10
Willeit, J.11
-
12
-
-
0032834677
-
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24
-
Li FY, Tariq M, Croxen F, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C. Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. Neurology 1999; 53:1265-71.
-
(1999)
Neurology
, vol.53
, pp. 1265-1271
-
-
Li, F.Y.1
Tariq, M.2
Croxen, F.3
Morten, K.4
Squier, W.5
Newsom-Davis, J.6
Beeson, D.7
Larsson, C.8
-
13
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen AH, Isohanni P, Paetau A, Herva R, Suomalainen A, Lönnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007; 130:3032-40.
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lönnqvist, T.6
-
14
-
-
56149108073
-
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase
-
Rivera H, Blázquez A, Carretero J, Alvarez-Cermeño JC, Campos Y, Cabello A, Gonzalez-Vioque E, Borstein B, Garesse R, Arenas J, Martín MA. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. Neuromuscul Disord 2001; 17:1677-80.
-
(2001)
Neuromuscul Disord
, vol.17
, pp. 1677-1680
-
-
Rivera, H.1
Blázquez, A.2
Carretero, J.3
Alvarez-Cermeño, J.C.4
Campos, Y.5
Cabello, A.6
Gonzalez-Vioque, E.7
Borstein, B.8
Garesse, R.9
Arenas, J.10
Martín, M.A.11
-
15
-
-
33745754532
-
Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic, progressive external opthalmoplagia
-
Houshmand M, Panahi MS, Hosseini BN, Dorraj GH, Tabassi AR. Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic, progressive external opthalmoplagia. Neurol India 2006; 54:182-5.
-
(2006)
Neurol India
, vol.54
, pp. 182-185
-
-
Houshmand, M.1
Panahi, M.S.2
Hosseini, B.N.3
Dorraj, G.H.4
Tabassi, A.R.5
-
16
-
-
55149119156
-
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia
-
Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol. 2008
-
(2008)
J Neurol
-
-
Virgilio, R.1
Ronchi, D.2
Hadjigeorgiou, G.M.3
Bordoni, A.4
Saladino, F.5
Moggio, M.6
Adobbati, L.7
Kafetsouli, D.8
Tsironi, E.9
Previtali, S.10
Papadimitriou, A.11
Bresolin, N.12
Comi, G.P.13
-
17
-
-
0043073110
-
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia
-
Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord 2003; 13:568-72.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 568-572
-
-
Deschauer, M.1
Kiefer, R.2
Blakely, E.L.3
He, L.4
Zierz, S.5
Turnbull, D.M.6
Taylor, R.W.7
-
18
-
-
0035956491
-
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
-
Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 2001; 57:2295-8.
-
(2001)
Neurology
, vol.57
, pp. 2295-2298
-
-
Napoli, L.1
Bordoni, A.2
Zeviani, M.3
Hadjigeorgiou, G.M.4
Sciacco, M.5
Tiranti, V.6
Terentiou, A.7
Moggio, M.8
Papadimitriou, A.9
Scarlato, G.10
Comi, G.P.11
-
19
-
-
0042922454
-
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase-gamma
-
Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase-gamma. Arch Neurol 2003; 60:1279-84.
-
(2003)
Arch Neurol
, vol.60
, pp. 1279-1284
-
-
Filosto, M.1
Mancuso, M.2
Nishigaki, Y.3
Pancrudo, J.4
Harati, Y.5
Gooch, C.6
Mankodi, A.7
Bayne, L.8
Bonilla, E.9
Shanske, S.10
Hirano, M.11
DiMauro, S.12
-
20
-
-
34447249263
-
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
-
Baloh RH, Salavaggione E, Milbrandt J, Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch Neurol 2007; 64:998-1000.
-
(2007)
Arch Neurol
, vol.64
, pp. 998-1000
-
-
Baloh, R.H.1
Salavaggione, E.2
Milbrandt, J.3
Pestronk, A.4
-
21
-
-
40849097478
-
Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia
-
Korhonen JA, Pande V, Holmlund T, Farge G, Pham XH, Nilsson L, Falkenberg M. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. J Mol Biol 2008; 377:691-705.
-
(2008)
J Mol Biol
, vol.377
, pp. 691-705
-
-
Korhonen, J.A.1
Pande, V.2
Holmlund, T.3
Farge, G.4
Pham, X.H.5
Nilsson, L.6
Falkenberg, M.7
-
22
-
-
33745637944
-
Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic: Radiation and may also be the mitochondrial DNA primase in most eukaryotes
-
Shutt TE, Gray MW. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic: radiation and may also be the mitochondrial DNA primase in most eukaryotes. J Mol Evol 2006; 62:588-99.
-
(2006)
J Mol Evol
, vol.62
, pp. 588-599
-
-
Shutt, T.E.1
Gray, M.W.2
|