-
1
-
-
0028829596
-
CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain
-
N. Aronin, K. Chase, C. Young, E. Sapp, C. Schwarz, N. Matta, R. Kornreich, B. Landwehrmeyer, E. Bird, M.F. Beal, J.P. Vonsattel, T. Smith, R. Carraway, F.M. Boyce, A.B. Young, J.B. Penney, and M. Difiglia CAG expansion affects the expression of mutant Huntingtin in the Huntington's disease brain Neuron 15 1995 1193 1201
-
(1995)
Neuron
, vol.15
, pp. 1193-1201
-
-
Aronin, N.1
Chase, K.2
Young, C.3
Sapp, E.4
Schwarz, C.5
Matta, N.6
Kornreich, R.7
Landwehrmeyer, B.8
Bird, E.9
Beal, M.F.10
Vonsattel, J.P.11
Smith, T.12
Carraway, R.13
Boyce, F.M.14
Young, A.B.15
Penney, J.B.16
Difiglia, M.17
-
2
-
-
0033681149
-
Chronic systemic pesticide exposure reproduces features of Parkinson's disease
-
R. Betarbet, T.B. Sherer, G. MacKenzie, M. Garcia-Osuna, A.V. Panov, and J.T. Greenamyre Chronic systemic pesticide exposure reproduces features of Parkinson's disease Nat. Neurosci. 3 2000 1301 1306
-
(2000)
Nat. Neurosci.
, vol.3
, pp. 1301-1306
-
-
Betarbet, R.1
Sherer, T.B.2
MacKenzie, G.3
Garcia-Osuna, M.4
Panov, A.V.5
Greenamyre, J.T.6
-
3
-
-
0017378110
-
DNA polymerase of mitochondria is a γ-polymerase
-
A. Bolden, G.P. Noy, and A. Weissbach DNA polymerase of mitochondria is a γ-polymerase J. Biol. Chem. 252 1977 3351 3356
-
(1977)
J. Biol. Chem.
, vol.252
, pp. 3351-3356
-
-
Bolden, A.1
Noy, G.P.2
Weissbach, A.3
-
4
-
-
0142217556
-
DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism
-
V. Bonifati, P. Rizzu, F. Squitieri, E. Krieger, N. Vanacore, J.C. van Swieten, A. Brice, C.M. van Duijn, B. Oostra, G. Meco, and P. Heutink DJ-1 (PARK7), a novel gene for autosomal recessive, early onset parkinsonism Neurol. Sci. 24 2003 159 160
-
(2003)
Neurol. Sci.
, vol.24
, pp. 159-160
-
-
Bonifati, V.1
Rizzu, P.2
Squitieri, F.3
Krieger, E.4
Vanacore, N.5
Van Swieten, J.C.6
Brice, A.7
Van Duijn, C.M.8
Oostra, B.9
Meco, G.10
Heutink, P.11
-
5
-
-
0035957304
-
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family
-
C. Casali, V. Bonifati, F.M. Santorelli, G. Casari, D. Fortini, A. Patrignani, G. Fabbrini, R. Carrozzo, G. d'Amati, N. Locuratolo, N. Vanacore, M. Damiano, A. Pierallini, F. Pierelli, G.A. Amabile, and G. Meco Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family Neurology 56 2001 802 805
-
(2001)
Neurology
, vol.56
, pp. 802-805
-
-
Casali, C.1
Bonifati, V.2
Santorelli, F.M.3
Casari, G.4
Fortini, D.5
Patrignani, A.6
Fabbrini, G.7
Carrozzo, R.8
D'Amati, G.9
Locuratolo, N.10
Vanacore, N.11
Damiano, M.12
Pierallini, A.13
Pierelli, F.14
Amabile, G.A.15
Meco, G.16
-
6
-
-
0030297454
-
Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
-
R.M. Chalmers, M. Brockington, R.S. Howard, B.R. Lecky, J.A. Morgan-Hughes, and A.E. Harding Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features J. Neurol. Sci. 143 1996 41 45
-
(1996)
J. Neurol. Sci.
, vol.143
, pp. 41-45
-
-
Chalmers, R.M.1
Brockington, M.2
Howard, R.S.3
Lecky, B.R.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
7
-
-
9144275011
-
Annonacin, a lipophilic inhibitor of mitochondrial complex I, induces nigral and striatal neurodegeneration in rats: Possible relevance for atypical parkinsonism in Guadeloupe
-
P. Champy, G.U. Höglinger, J. Féger, C. Gleye, R. Hocquemiller, A. Laurens, V. Guérineau, O. Laprévote, F. Medja, A. Lombès, P.P. Michel, A. Lannuzel, E.C. Hirsch, and M. Ruberg Annonacin, a lipophilic inhibitor of mitochondrial complex I, induces nigral and striatal neurodegeneration in rats: possible relevance for atypical parkinsonism in Guadeloupe J. Neurochem. 88 2004 63 69
-
(2004)
J. Neurochem.
, vol.88
, pp. 63-69
-
-
Champy, P.1
Höglinger, G.U.2
Féger, J.3
Gleye, C.4
Hocquemiller, R.5
Laurens, A.6
Guérineau, V.7
Laprévote, O.8
Medja, F.9
Lombès, A.10
Michel, P.P.11
Lannuzel, A.12
Hirsch, E.C.13
Ruberg, M.14
-
8
-
-
0028229765
-
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy
-
N. Checcarelli, A. Prelle, M. Moggio, G. Comi, N. Bresolin, A. Papadimitriou, G. Fagiolari, A. Bordoni, and G. Scarlato Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy J. Neurol. Sci. 123 1994 74 79
-
(1994)
J. Neurol. Sci.
, vol.123
, pp. 74-79
-
-
Checcarelli, N.1
Prelle, A.2
Moggio, M.3
Comi, G.4
Bresolin, N.5
Papadimitriou, A.6
Fagiolari, G.7
Bordoni, A.8
Scarlato, G.9
-
10
-
-
0033949719
-
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder
-
D.A. Cottrell, P.G. Ince, E.L. Blakely, M.A. Johnson, P.F. Chinnery, M. Hanna, and D.M. Turnbull Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder J. Neuropathol. Exp. Neurol. 59 2000 621 627
-
(2000)
J. Neuropathol. Exp. Neurol.
, vol.59
, pp. 621-627
-
-
Cottrell, D.A.1
Ince, P.G.2
Blakely, E.L.3
Johnson, M.A.4
Chinnery, P.F.5
Hanna, M.6
Turnbull, D.M.7
-
11
-
-
0034640011
-
Fourteen and counting: Unraveling trinucleotide repeat diseases
-
C.J. Cummings, and H.Y. Zoghbi Fourteen and counting: unraveling trinucleotide repeat diseases Hum. Mol. Genet. 9 2000 909 916
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 909-916
-
-
Cummings, C.J.1
Zoghbi, H.Y.2
-
12
-
-
0031859395
-
Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
-
M. Gu, J.M. Cooper, J.-W. Taanman, and A.H.V. Schapira Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease Ann. Neurol. 44 1998 177 186
-
(1998)
Ann. Neurol.
, vol.44
, pp. 177-186
-
-
Gu, M.1
Cooper, J.M.2
Taanman, J.-W.3
Schapira, A.H.V.4
-
13
-
-
0028316759
-
Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease
-
B. Janetzky, S. Hauck, M.B. Youdim, P. Riederer, K. Jellinger, F. Pantucek, R. Zochling, K.W. Boissl, and H. Reichmann Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease Neurosci. Lett. 169 1994 126 128
-
(1994)
Neurosci. Lett.
, vol.169
, pp. 126-128
-
-
Janetzky, B.1
Hauck, S.2
Youdim, M.B.3
Riederer, P.4
Jellinger, K.5
Pantucek, F.6
Zochling, R.7
Boissl, K.W.8
Reichmann, H.9
-
14
-
-
0346055101
-
Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility
-
M. Jensen, H. Leffers, J.H. Petersen, A.A. Nyboe, N. Jørgensen, E. Carlsen, T. Kold Jensen, N.E. Skakkebæk, and E. Rajpert-De Meyts Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility Hum. Reprod. 19 2004 65 70
-
(2004)
Hum. Reprod.
, vol.19
, pp. 65-70
-
-
Jensen, M.1
Leffers, H.2
Petersen, J.H.3
Nyboe, A.A.4
Jørgensen, N.5
Carlsen, E.6
Kold Jensen, T.7
Skakkebæk, N.E.8
Rajpert-De Meyts, E.9
-
15
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
J. Kaukonen, J.K. Juselius, V. Tiranti, A. Kyttala, M. Zeviani, G.P. Comi, S. Keranen, L. Peltonen, and A. Suomalainen Role of adenine nucleotide translocator 1 in mtDNA maintenance Science 289 2000 782 785
-
(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
-
16
-
-
0346752132
-
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
-
L. Kennedy, E. Evans, C.M. Chen, L. Craven, P.J. Detloff, M. Ennis, and P.F. Shelbourne Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis Hum. Mol. Genet. 12 2003 3359 3367
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 3359-3367
-
-
Kennedy, L.1
Evans, E.2
Chen, C.M.3
Craven, L.4
Detloff, P.J.5
Ennis, M.6
Shelbourne, P.F.7
-
17
-
-
0034641887
-
Dramatic mutation instability in HD mouse striatum: Does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
-
L. Kennedy, and P.F. Shelbourne Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease? Hum. Mol. Genet. 9 2000 2539 2544
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2539-2544
-
-
Kennedy, L.1
Shelbourne, P.F.2
-
18
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase γa are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
E. Lamantea, V. Tiranti, A. Bordoni, A. Toscano, F. Bono, S. Servidei, A. Papadimitriou, H. Spelbrink, L. Silvestri, G. Casari, G.P. Comi, and M. Zeviani Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia Ann. Neurol. 52 2002 211 219
-
(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
-
19
-
-
0020680904
-
Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis
-
J.W. Langston, P. Ballard, J.W. Tetrud, and I. Irwin Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis Science 219 1983 979 980
-
(1983)
Science
, vol.219
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
20
-
-
0031032128
-
Mitochondrial DNA polymerases from yeast to man: A new family of polymerases
-
N. Lecrenier, P. Van Der Bruggen, and F. Foury Mitochondrial DNA polymerases from yeast to man: a new family of polymerases Gene. 185 1997 147 152
-
(1997)
Gene.
, vol.185
, pp. 147-152
-
-
Lecrenier, N.1
Van Der Bruggen, P.2
Foury, F.3
-
21
-
-
0030587492
-
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase γ
-
P.A. Ropp, and W.C. Copeland Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase γ Genomics 36 1996 449 458
-
(1996)
Genomics
, vol.36
, pp. 449-458
-
-
Ropp, P.A.1
Copeland, W.C.2
-
22
-
-
0032986615
-
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals
-
A. Rovio, V. Tiranti, A.L. Bednarz, A. Suomalainen, J.N. Spelbrink, N. Lecrenier, A. Melberg, M. Zeviani, J. Poulton, F. Foury, and H.T. Jacobs Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals Eur. J. Hum. Genet. 7 1999 140 146
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 140-146
-
-
Rovio, A.1
Tiranti, V.2
Bednarz, A.L.3
Suomalainen, A.4
Spelbrink, J.N.5
Lecrenier, N.6
Melberg, A.7
Zeviani, M.8
Poulton, J.9
Foury, F.10
Jacobs, H.T.11
-
23
-
-
0035185070
-
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
-
A.T. Rovio, D.R. Marchington, S. Donat, H.-C. Schuppe, J. Abel, E. Fritsche, D.J. Elliott, P. Laippala, A.L. Ahola, D. McNay, R.F. Harrison, B. Hughes, T. Barrett, D.M.D. Bailey, D. Mehmet, A.M. Jequier, T.B. Hargreave, S.-H. Kao, J.M. Cummins, D.E. Barton, H.J. Cooke, Y.-H. Wei, L. Wichmann, J. Poulton, and H.T. Jacobs Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility Nat. Genet. 29 2001 261 262
-
(2001)
Nat. Genet.
, vol.29
, pp. 261-262
-
-
Rovio, A.T.1
Marchington, D.R.2
Donat, S.3
Schuppe, H.-C.4
Abel, J.5
Fritsche, E.6
Elliott, D.J.7
Laippala, P.8
Ahola, A.L.9
McNay, D.10
Harrison, R.F.11
Hughes, B.12
Barrett, T.13
Bailey, D.M.D.14
Mehmet, D.15
Jequier, A.M.16
Hargreave, T.B.17
Kao, S.-H.18
Cummins, J.M.19
Barton, D.E.20
Cooke, H.J.21
Wei, Y.-H.22
Wichmann, L.23
Poulton, J.24
Jacobs, H.T.25
more..
-
24
-
-
0025254401
-
Mitochondrial complex I deficiency in Parkinson's disease
-
A.H.V. Schapira, J.M. Cooper, D. Dexter, J.B. Clark, P. Jenner, and C.D. Marsden Mitochondrial complex I deficiency in Parkinson's disease J. Neurochem. 54 1990 823 827
-
(1990)
J. Neurochem.
, vol.54
, pp. 823-827
-
-
Schapira, A.H.V.1
Cooper, J.M.2
Dexter, D.3
Clark, J.B.4
Jenner, P.5
Marsden, C.D.6
-
25
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
J.N. Spelbrink, F.-Y. Li, V. Tiranti, K. Nikali, Q.-P. Yuan, M. Tariq, S. Wanrooij, N. Garrido, G. Comi, L. Morandi, L. Santoro, A. Toscano, G.M. Fabrizi, H. Somer, R. Croxen, D. Beeson, J. Poulton, A. Suomalainen, H.T.J. acobs, M. Zeviani, and C. Larsson 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 2001 223 231
-
(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
Acobs, H.T.J.19
Zeviani, M.20
Larsson, C.21
more..
-
26
-
-
0029908226
-
Origin and functional consequences of the complex I defect in Parkinson's disease
-
R.H. Swerdlow, J.K. Parks, S.W. Miller, J.B. Tuttle, P.A. Trimmer, J.P. Sheehan, J.P. Bennett Jr., R.E. Davis, and W.D. Parker Jr. Origin and functional consequences of the complex I defect in Parkinson's disease Ann. Neurol. 40 1996 663 671
-
(1996)
Ann. Neurol.
, vol.40
, pp. 663-671
-
-
Swerdlow, R.H.1
Parks, J.K.2
Miller, S.W.3
Tuttle, J.B.4
Trimmer, P.A.5
Sheehan, J.P.6
Bennett Jr., J.P.7
Davis, R.E.8
Parker Jr., W.D.9
-
27
-
-
0033060854
-
The mitochondrial genome: Structure, transcription, translation and replication
-
J.-W. Taanman The mitochondrial genome: structure, transcription, translation and replication Biochim. Biophys. Acta. 1410 1999 103 123
-
(1999)
Biochim. Biophys. Acta.
, vol.1410
, pp. 103-123
-
-
Taanman, J.-W.1
-
28
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
H. Telenius, B. Kremer, Y.P. Goldberg, J. Theilmann, S.E. Andrew, J. Zeisler, S. Adam, C. Greenberg, E.J. Ives, L.A. Clarke, and M.R. Hayden Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm Nat. Genet. 6 1994 409 414
-
(1994)
Nat. Genet.
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
Theilmann, J.4
Andrew, S.E.5
Zeisler, J.6
Adam, S.7
Greenberg, C.8
Ives, E.J.9
Clarke, L.A.10
Hayden, M.R.11
-
29
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
E.M. Valente, P.M. Abou-Sleiman, V. Caputo, M.M.K. Muqit, K. Harvey, S. Gispert, Z. Ali, D. Del Turco, A.R. Bentivoglio, D.G. Healy, A. Albanese, R. Nussbaum, R. González-Maldonado, T. Deller, S. Salvi, P. Cortelli, W.P. Gilks, D.S. Latchman, R.J. Harvey, B. Dallapiccola, G. Auburger, and N.W. Wood Hereditary early-onset Parkinson's disease caused by mutations in PINK1 Science 304 2004 1158 1160
-
(2004)
Science
, vol.304
, 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
González-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..
-
30
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
G. Van Goethem, B. Dermaut, A. Löfgren, J.-J. Martin, and C. Van Broeckhoven Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions Nat. Genet. 28 2001 211 212
-
(2001)
Nat. Genet.
, vol.28
, pp. 211-212
-
-
Van Goethem, G.1
Dermaut, B.2
Löfgren, A.3
Martin, J.-J.4
Van Broeckhoven, C.5
-
31
-
-
0043033148
-
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle
-
G. Van Goethem, A. Löfgren, B. Dermaut, C. Ceuterick, J.-J. Martin, and C. Van Broeckhoven Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle Hum. Mutat. 22 2003 175 176
-
(2003)
Hum. Mutat.
, vol.22
, pp. 175-176
-
-
Van Goethem, G.1
Löfgren, A.2
Dermaut, B.3
Ceuterick, C.4
Martin, J.-J.5
Van Broeckhoven, C.6
|