-
1
-
-
39649120348
-
Inherited mitochondrial diseases of DNA replication
-
DOI 10.1146/annurev.med.59.053006.104646
-
WC Copeland 2008 Inherited mitochondrial diseases of DNA replication Annu Rev Med 59 131 146 17892433 10.1146/annurev.med.59.053006.104646 1:CAS:528:DC%2BD1cXis12ntbw%3D (Pubitemid 351287928)
-
(2008)
Annual Review of Medicine
, vol.59
, pp. 131-146
-
-
Copeland, W.C.1
-
2
-
-
0019978703
-
Replication of animal mitochondrial DNA
-
DA Clayton 1982 Replication of animal mitochondrial DNA Cell 28 693 705 6178513 10.1016/0092-8674(82)90049-6 1:CAS:528:DyaL38XitFWltro%3D (Pubitemid 12084326)
-
(1982)
Cell
, vol.28
, Issue.4
, pp. 693-705
-
-
Clayton, D.A.1
-
3
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
DOI 10.1038/90034
-
G Van Goethem B Dermaut A Löfgren JJ Martin C Van Broeckhoven 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat Genet 28 211 212 11431686 10.1038/90034 (Pubitemid 32626018)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.-J.4
Van Broeckhoven, C.5
-
4
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: Clinical and molecular genetic study
-
DOI 10.1016/S0140-6736(04)16983-3, PII S0140673604169833
-
P Luoma A Melberg JO Rinne JA Kaukonen NN Nupponen RM Chalmers A Oldfors I Rautakorpi L Peltonen K Majamaa H Somer A Suomalainen 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study Lancet 364 875 882 15351195 10.1016/S0140-6736(04) 16983-3 1:CAS:528:DC%2BD2cXntlaqsLo%3D (Pubitemid 39221065)
-
(2004)
Lancet
, vol.364
, Issue.9437
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
Kaukonen, J.A.4
Nupponen, N.N.5
Chalmers, R.M.6
Oldfors, P.A.7
Rautakorpi, I.8
Peltonen, P.L.9
Majamaa, P.K.10
Somer, H.11
Suomalainen, A.12
-
5
-
-
62149098339
-
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
-
19251978 10.1136/jmg.2008.058180 1:CAS:528:DC%2BD1MXktlKktbk%3D
-
JD Stewart S Tennant H Powell S Omer AA Morris R Roxburgh JH Livingston R McFarland DM Turnbull PF Chinnery RW Taylor 2009 Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children J Med Genet 46 209 214 19251978 10.1136/jmg.2008.058180 1:CAS:528:DC%2BD1MXktlKktbk%3D
-
(2009)
J Med Genet
, vol.46
, pp. 209-214
-
-
Stewart, J.D.1
Tennant, S.2
Powell, H.3
Omer, S.4
Morris, A.A.5
Roxburgh, R.6
Livingston, J.H.7
McFarland, R.8
Turnbull, D.M.9
Chinnery, P.F.10
Taylor, R.W.11
-
6
-
-
3543017697
-
A novel polymerase γ mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism
-
DOI 10.1001/archneur.61.11.1777
-
M Mancuso M Filosto SJ Oh S DiMauro 2004 A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism Arch Neurol 61 1777 1779 15534189 10.1001/archneur.61.11.1777 (Pubitemid 39463436)
-
(2004)
Archives of Neurology
, vol.61
, Issue.11
, pp. 1777-1779
-
-
Mancuso, M.1
Filosto, M.2
Oh, S.J.3
DiMauro, S.4
-
7
-
-
34247122280
-
Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism
-
G Hudson AM Schaefer RW Taylor W Tiangyou A Gibson G Venables P Griffiths DJ Burn DM Turnbull PF Chinnery 2007 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism Arch Neurol 64 553 557 17420318 10.1001/archneur.64.4.553 (Pubitemid 46588345)
-
(2007)
Archives of Neurology
, vol.64
, Issue.4
, pp. 553-557
-
-
Hudson, G.1
Schaefer, A.M.2
Taylor, R.W.3
Tiangyou, W.4
Gibson, A.5
Venables, G.6
Griffiths, P.7
Burn, D.J.8
Turnbull, D.M.9
Chinnery, P.F.10
-
8
-
-
55749085460
-
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
-
18321754 10.1016/j.parkreldis.2008.01.009 1:STN:280: DC%2BD1cjktVekug%3D%3D
-
AM Remes R Hinttala M Kärppä H Soini R Takalo J Uusimaa K Majamaa 2008 Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene Parkinsonism Relat Disord 14 652 654 18321754 10.1016/j.parkreldis. 2008.01.009 1:STN:280:DC%2BD1cjktVekug%3D%3D
-
(2008)
Parkinsonism Relat Disord
, vol.14
, pp. 652-654
-
-
Remes, A.M.1
Hinttala, R.2
Kärppä, M.3
Soini, H.4
Takalo, R.5
Uusimaa, J.6
Majamaa, K.7
-
9
-
-
45449101303
-
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
-
18502641 10.1016/j.nmd.2008.04.005
-
F Invernizzi S Varanese A Thomas F Carrara M Onofrj M Zeviani 2008 Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism Neuromuscul Disord 18 460 464 18502641 10.1016/j.nmd.2008.04.005
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 460-464
-
-
Invernizzi, F.1
Varanese, S.2
Thomas, A.3
Carrara, F.4
Onofrj, M.5
Zeviani, M.6
-
10
-
-
34447249263
-
Familial Parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
-
DOI 10.1001/archneur.64.7.998
-
RH Baloh E Salavaggione J Milbrandt A Pestronk 2007 Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle Arch Neurol 64 998 1000 17620490 10.1001/archneur.64.7.998 (Pubitemid 47048000)
-
(2007)
Archives of Neurology
, vol.64
, Issue.7
, pp. 998-1000
-
-
Baloh, R.H.1
Salavaggione, E.2
Milbrandt, J.3
Pestronk, A.4
-
11
-
-
45449120033
-
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
-
18504126 10.1016/j.nmd.2008.03.013
-
G Galassi E Lamantea F Invernizzi F Tavani I Pisano I Ferrero L Palmieri M Zeviani 2008 Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy Neuromuscul Disord 18 465 470 18504126 10.1016/j.nmd.2008.03. 013
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 465-470
-
-
Galassi, G.1
Lamantea, E.2
Invernizzi, F.3
Tavani, F.4
Pisano, I.5
Ferrero, I.6
Palmieri, L.7
Zeviani, M.8
-
12
-
-
0042922454
-
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ
-
DOI 10.1001/archneur.60.9.1279
-
M Filosto M Mancuso Y Nishigaki J Pancrudo Y Harati C Gooch A Mankodi L Bayne E Bonilla S Shanske M Hirano S DiMauro 2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma Arch Neurol 60 1279 1284 12975295 10.1001/archneur.60.9.1279 (Pubitemid 37099636)
-
(2003)
Archives of Neurology
, vol.60
, Issue.9
, 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
-
13
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
DOI 10.1038/90058
-
JN Spelbrink FY Li V Tiranti K Nikali QP Yuan M Tariq S Wanrooij N Garrido G Comi L Morandi L Santoro A Toscano GM Fabrizi H Somer R Croxen D Beeson J Poulton A Suomalainen HT Jacobs M Zeviani C Larsson 2001 Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria Nat Genet 28 223 231 11431692 10.1038/90058 1:STN:280:DC%2BD3MznsV2jsQ%3D%3D (Pubitemid 32626024)
-
(2001)
Nature Genetics
, vol.28
, Issue.3
, 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..
-
14
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
DOI 10.1126/science.289.5480.782
-
J Kaukonen JK Juselius V Tiranti A Kyttälä M Zeviani GP Comi S Keränen L Peltonen A Suomalainen 2000 Role of adenine nucleotide translocator 1 in mtDNA maintenance Science 289 782 785 10926541 10.1126/science.289.5480.782 1:CAS:528:DC%2BD3cXlvVCnu74%3D (Pubitemid 30650199)
-
(2000)
Science
, vol.289
, Issue.5480
, 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
-
15
-
-
48249120297
-
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
-
18487244 10.1093/hmg/ddn150 1:CAS:528:DC%2BD1cXptVertLs%3D
-
N Ashley A O'Rourke C Smith S Adams V Gowda M Zeviani GK Brown C Fratter J Poulton 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations Hum Mol Genet 17 2496 2506 18487244 10.1093/hmg/ddn150 1:CAS:528:DC%2BD1cXptVertLs%3D
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2496-2506
-
-
Ashley, N.1
O'Rourke, A.2
Smith, C.3
Adams, S.4
Gowda, V.5
Zeviani, M.6
Brown, G.K.7
Fratter, C.8
Poulton, J.9
-
16
-
-
72449155684
-
The unfolding clinical spectrum of POLG mutations
-
19578034 10.1136/jmg.2009.067686 1:CAS:528:DC%2BD1MXhsFait73P
-
MJ Blok BJ van den Bosch E Jongen A Hendrickx CE de Die-Smulders JE Hoogendijk E Brusse M de Visser BT Poll-The J Bierau IF de Coo HJ Smeets 2009 The unfolding clinical spectrum of POLG mutations J Med Genet 46 776 785 19578034 10.1136/jmg.2009.067686 1:CAS:528:DC%2BD1MXhsFait73P
-
(2009)
J Med Genet
, vol.46
, pp. 776-785
-
-
Blok, M.J.1
Van Den Bosch, B.J.2
Jongen, E.3
Hendrickx, A.4
De Die-Smulders, C.E.5
Hoogendijk, J.E.6
Brusse, E.7
De Visser, M.8
Poll-The, B.T.9
Bierau, J.10
De Coo, I.F.11
Smeets, H.J.12
-
17
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
18546365 10.1002/humu.20824
-
LJ Wong RK Naviaux N Brunetti-Pierri Q Zhang ES Schmitt C Truong M Milone BH Cohen B Wical J Ganesh AA Basinger BK Burton K Swoboda DL Gilbert A Vanderver RP Saneto B Maranda G Arnold JE Abdenur PJ Waters WC Copeland 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations Hum Mutat 29 E150 E172 18546365 10.1002/humu.20824
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
Zhang, Q.4
Schmitt, E.S.5
Truong, C.6
Milone, M.7
Cohen, B.H.8
Wical, B.9
Ganesh, J.10
Basinger, A.A.11
Burton, B.K.12
Swoboda, K.13
Gilbert, D.L.14
Vanderver, A.15
Saneto, R.P.16
Maranda, B.17
Arnold, G.18
Abdenur, J.E.19
Waters, P.J.20
Copeland, W.C.21
more..
-
18
-
-
62149098339
-
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
-
19251978 10.1136/jmg.2008.058180 1:CAS:528:DC%2BD1MXktlKktbk%3D
-
JD Stewart S Tennant H Powell A Pyle EL Blakely L He G Hudson M Roberts D du Plessis 2009 Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children J Med Genet 46 209 214 19251978 10.1136/jmg.2008.058180 1:CAS:528:DC%2BD1MXktlKktbk%3D
-
(2009)
J Med Genet
, vol.46
, pp. 209-214
-
-
Stewart, J.D.1
Tennant, S.2
Powell, H.3
Pyle, A.4
Blakely, E.L.5
He, L.6
Hudson, G.7
Roberts, M.8
Du Plessis, D.9
-
19
-
-
77952518584
-
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
-
20479361 10.1212/WNL.0b013e3181df099f 1:STN:280:DC%2BC3czkt1Ojtg%3D%3D
-
C Fratter GS Gorman JD Stewart M Buddles C Smith J Evans A Seller J Poulton M Roberts MG Hanna S Rahman SE Omer T Klopstock B Schoser C Kornblum B Czermin B Lecky EL Blakely K Craig PF Chinnery DM Turnbull R Horvath RW Taylor 2010 The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO Neurology 74 1619 1626 20479361 10.1212/WNL. 0b013e3181df099f 1:STN:280:DC%2BC3czkt1Ojtg%3D%3D
-
(2010)
Neurology
, vol.74
, pp. 1619-1626
-
-
Fratter, C.1
Gorman, G.S.2
Stewart, J.D.3
Buddles, M.4
Smith, C.5
Evans, J.6
Seller, A.7
Poulton, J.8
Roberts, M.9
Hanna, M.G.10
Rahman, S.11
Omer, S.E.12
Klopstock, T.13
Schoser, B.14
Kornblum, C.15
Czermin, B.16
Lecky, B.17
Blakely, E.L.18
Craig, K.19
Chinnery, P.F.20
Turnbull, D.M.21
Horvath, R.22
Taylor, R.W.23
more..
-
20
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
-
15824347 10.1212/01.WNL.0000156516.77696.5A 1:STN:280: DC%2BD2M7ptFektg%3D%3D
-
S Winterthun G Ferrari L He RW Taylor RW Taylor M Zeviani DM Turnbull BA Engelsen G Moen LA Bindoff 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations Neurology 64 1204 1208 15824347 10.1212/01.WNL.0000156516.77696.5A 1:STN:280:DC%2BD2M7ptFektg%3D%3D
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
Taylor, R.W.4
Taylor, R.W.5
Zeviani, M.6
Turnbull, D.M.7
Engelsen, B.A.8
Moen, G.9
Bindoff, L.A.10
-
21
-
-
0033452122
-
Prevalence of Parkinson's disease in Lower Aragon, Spain
-
DOI 10.1002/1531-8257(199907)14: 4<596::AID-MDS1008>3.0.CO;2-U
-
JM Errea JR Ara C Aibar J de Pedro-Cuesta 1999 Prevalence of Parkinson's disease in lower Aragon, Spain Mov Disord 14 596 604 10435496 10.1002/1531-8257(199907)14:4<596::AID-MDS1008>3.0.CO;2-U 1:STN:280:DyaK1MzmtFynuw%3D%3D (Pubitemid 30011452)
-
(1999)
Movement Disorders
, vol.14
, Issue.4
, pp. 596-604
-
-
Errea, J.M.1
Ara, J.R.2
Aibar, C.3
De Pedro-Cuesta, J.4
-
22
-
-
0020677984
-
Epidemiology of Parkinson's disease in a Japanese city
-
H Harada S Nishikawa K Takahashi 1983 Epidemiology of Parkinson's disease in a Japanese city Arch Neurol 40 151 154 6830454 1:STN:280: DyaL3s7lt1emtg%3D%3D (Pubitemid 13139115)
-
(1983)
Archives of Neurology
, vol.40
, Issue.3
, pp. 151-154
-
-
Harada, H.1
Nishikawa, S.2
Takahashi, K.3
-
23
-
-
0020680904
-
Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
-
JW Langston P Ballard JW Tetrud I Irwin 1983 Chronic parkinsonism in humans due to a product of meperidine-analog synthesis Science 219 979 980 6823561 10.1126/science.6823561 1:STN:280:DyaL3s7hvF2mtg%3D%3D (Pubitemid 13189531)
-
(1983)
Science
, vol.219
, Issue.4587
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
24
-
-
0033555287
-
+) selectively inhibits the replication of mitochondrial DNA
-
DOI 10.1046/j.1432-1327.1999.00056.x
-
K Miyako T Irie T Muta S Umeda Y Kai T Fujiwara K Takeshige D Kang 1999 1-Methyl-4-phenylpyridinium ion (MPP+) selectively inhibits the replication of mitochondrial DNA Eur J Biochem 259 412 418 9914521 10.1046/j.1432-1327.1999. 00056.x 1:CAS:528:DyaK1MXlt1KksQ%3D%3D (Pubitemid 29030864)
-
(1999)
European Journal of Biochemistry
, vol.259
, Issue.1-2
, pp. 412-418
-
-
Miyako, K.1
Irie, T.2
Muta, T.3
Umeda, S.4
Kai, Y.5
Fujiwara, T.6
Takeshige, K.7
Kang, D.8
-
25
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
DOI 10.1126/science.1096284
-
EM Valente PM Abou-Sleiman V Caputo MM Muqit K Harvey S Gispert Z Ali D Del Turco AR Bentivoglio DG Healy A Albanese R Nussbaum R González- Maldonado T Deller S Salvi P Cortelli WP Gilks DS Latchman RJ Harvey B Dallapiccola G Auburger NW Wood 2004 Hereditary early-onset Parkinson's disease caused by mutations in PINK1 Science 304 1158 1160 15087508 10.1126/science. 1096284 1:CAS:528:DC%2BD2cXktVyit7k%3D (Pubitemid 38661852)
-
(2004)
Science
, vol.304
, Issue.5674
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.K.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del Turco, D.8
Bentivoglio, A.R.9
Healy, D.G.10
Albanese, A.11
Nussbaum, R.12
Gonzalez-Maldonado, R.13
Deller, T.14
Salvi, S.15
Cortelli, P.16
Gilks, W.P.17
Latchman, D.S.18
Harvey, R.J.19
Dallapiccola, B.20
Auburger, G.21
Wood, N.W.22
more..
-
26
-
-
33751008071
-
POLG1 in idiopathic Parkinson disease
-
DOI 10.1212/01.wnl.0000238963.07425.d5, PII 0000611420061114000039
-
W Tiangyou G Hudson D Ghezzi G Ferrari M Zeviani DJ Burn PF Chinnery 2006 POLG1 in idiopathic Parkinson disease Neurology 67 1698 1700 16943369 10.1212/01.wnl.0000238963.07425.d5 1:CAS:528:DC%2BD28XhtFChsLjI (Pubitemid 44747953)
-
(2006)
Neurology
, vol.67
, Issue.9
, pp. 1698-1700
-
-
Tiangyou, W.1
Hudson, G.2
Ghezzi, D.3
Ferrari, G.4
Zeviani, M.5
Burn, D.J.6
Chinnery, P.F.7
-
27
-
-
67651148267
-
No association between common POLG1 variants and sporadic idiopathic Parkinson's disease
-
19243043 10.1002/mds.22310
-
G Hudson W Tiangyou A Stutt M Eccles L Robinson DJ Burn PF Chinnery 2009 No association between common POLG1 variants and sporadic idiopathic Parkinson's disease Mov Disord 24 1092 1094 19243043 10.1002/mds.22310
-
(2009)
Mov Disord
, vol.24
, pp. 1092-1094
-
-
Hudson, G.1
Tiangyou, W.2
Stutt, A.3
Eccles, M.4
Robinson, L.5
Burn, D.J.6
Chinnery, P.F.7
|