-
1
-
-
0000238410
-
Diffuse progressive degeneration of the gray matter of the cerebrum
-
B.J. Alpers Diffuse progressive degeneration of the gray matter of the cerebrum Arch Neurol Psychiatry 25 1931 469 505
-
(1931)
Arch Neurol Psychiatry
, vol.25
, pp. 469-505
-
-
Alpers, B.J.1
-
2
-
-
84862021181
-
Diffuse cortical sclerosis of the brain in children
-
W.M. Bullard Diffuse cortical sclerosis of the brain in children J Nerv Ment Dis 15 1890 699 709
-
(1890)
J Nerv Ment Dis
, vol.15
, pp. 699-709
-
-
Bullard, W.M.1
-
3
-
-
0017260560
-
Infantile diffuse cerebral degeneration with hepatic cirrhosis
-
P.R. Huttenlocher, G.B. Solitare, and G. Adams Infantile diffuse cerebral degeneration with hepatic cirrhosis Arch Neurol 33 1976 186 192
-
(1976)
Arch Neurol
, vol.33
, pp. 186-192
-
-
Huttenlocher, P.R.1
Solitare, G.B.2
Adams, G.3
-
4
-
-
0015464199
-
Progressive cerebral poliodystrophy-Alpers' disease: Disorganized giant neuronal mitochondria on electron microscopy
-
U. Sandback, and P. Lerman Progressive cerebral poliodystrophy-Alpers' disease: Disorganized giant neuronal mitochondria on electron microscopy J Neurol Neurosurg Psychiatry 35 1972 749 755
-
(1972)
J Neurol Neurosurg Psychiatry
, vol.35
, pp. 749-755
-
-
Sandback, U.1
Lerman, P.2
-
5
-
-
0024999128
-
Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review
-
B.N. Harding Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review J Child Neurol 5 1990 273 287
-
(1990)
J Child Neurol
, vol.5
, pp. 273-287
-
-
Harding, B.N.1
-
6
-
-
0023145963
-
Progressive neuronal degeneration of childhood (PNDC) with liver disease
-
J. Eggar, B.N. Harding, S.G. Boyd, J. Wilson, and M. Erdohazi Progressive neuronal degeneration of childhood (PNDC) with liver disease Clin Pediatr (Phila) 26 1987 167 173
-
(1987)
Clin Pediatr (Phila)
, vol.26
, pp. 167-173
-
-
Eggar, J.1
Harding, B.N.2
Boyd, S.G.3
Wilson, J.4
Erdohazi, M.5
-
7
-
-
33746891876
-
Molecular diagnosis of Alpers syndrome
-
K.V. Nguyen, F.S. Sharief, S.S.L. Chan, W.C. Copeland, and R.K. Naviaux Molecular diagnosis of Alpers syndrome J Hepatol 45 2006 108 116
-
(2006)
J Hepatol
, vol.45
, pp. 108-116
-
-
Nguyen, K.V.1
Sharief, F.S.2
Chan, S.S.L.3
Copeland, W.C.4
Naviaux, R.K.5
-
8
-
-
0030587492
-
Cloning and characterization of the human mitochondrial DNA polymerase gamma
-
P.A. Ropp, and W.C. Copeland Cloning and characterization of the human mitochondrial DNA polymerase gamma Genomics 35 1996 449 458
-
(1996)
Genomics
, vol.35
, pp. 449-458
-
-
Ropp, P.A.1
Copeland, W.C.2
-
9
-
-
0032900339
-
Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers syndrome
-
R.K. Naviaux, W.J. Nyhan, and B.A. Barshop Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers syndrome Ann Neurol 25 1999 54 58
-
(1999)
Ann Neurol
, vol.25
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.J.2
Barshop, B.A.3
-
10
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterization by mtDNA deletions
-
G. Van Goethem, B. Dermaut, A. Lofgren, J.J. Martin, and C. Van Broeckhoven Mutation of POLG is associated with progressive external ophthalmoplegia characterization by mtDNA deletions Nat Genet 28 2001 211 212
-
(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
-
11
-
-
2142705756
-
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
-
R.K. Naviaux, and K.V. Nguyen POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion Ann Neurol 55 2004 706 712
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
12
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
L.-J.C. Wong, R.K. Naviaux, and N. Brunetti-Pierri Molecular and clinical genetics of mitochondrial diseases due to POLG mutations Hum Mutat 29 2008 E150 E172
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.-J.C.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
-
13
-
-
80955158521
-
Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum
-
S. Tang, J. Wang, and N.-C. Lee Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum J Med Genet 48 2011 669 681
-
(2011)
J Med Genet
, vol.48
, pp. 669-681
-
-
Tang, S.1
Wang, J.2
Lee, N.-C.3
-
14
-
-
77956251381
-
Polymerase gamma disease through the ages
-
R.P. Saneto, and R.K. Naviaux Polymerase gamma disease through the ages Dev Disabil Res Rev 16 2010 163 174
-
(2010)
Dev Disabil Res Rev
, vol.16
, pp. 163-174
-
-
Saneto, R.P.1
Naviaux, R.K.2
-
16
-
-
77955269817
-
The clinical diagnosis of POLG disease and other mitochondrial DNA depletions disorders
-
B.H. Cohen, and R.K. Naviaux The clinical diagnosis of POLG disease and other mitochondrial DNA depletions disorders Methods 51 2010 364 373
-
(2010)
Methods
, vol.51
, pp. 364-373
-
-
Cohen, B.H.1
Naviaux, R.K.2
-
17
-
-
72449155684
-
The unfolding clinical spectrum of POLG mutations
-
M.J. Blok, B.J. van den Bosch, and E. Jongen The unfolding clinical spectrum of POLG mutations J Med Genet 46 2009 776 785
-
(2009)
J Med Genet
, vol.46
, pp. 776-785
-
-
Blok, M.J.1
Van Den Bosch, B.J.2
Jongen, E.3
-
18
-
-
58149333245
-
Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk
-
A. Spinazzola, and M. Zeviani Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk J Intern Med 265 2009 174 192
-
(2009)
J Intern Med
, vol.265
, pp. 174-192
-
-
Spinazzola, A.1
Zeviani, M.2
-
19
-
-
41549151612
-
135th ENMC Workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007. Naarden, the Netherlands
-
P.F. Chinnery, and M. Zeviani 135th ENMC Workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007. Naarden, The Netherlands Neuromuscul Disord 18 2008 257 267
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 257-267
-
-
Chinnery, P.F.1
Zeviani, M.2
-
20
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
-
R. Horvath, G. Hudson, and G. Ferrari Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene Brain 129 2006 1674 1684
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
-
21
-
-
33745685519
-
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases
-
C. Tzoulis, B.A. Engelsen, and W. Telstad The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases Brain 129 2006 1685 1692
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
-
22
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γ A
-
G. Ferrari, E. Lamanea, and A. Donati Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γ A Brain 128 2005 723 731
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamanea, E.2
Donati, A.3
-
23
-
-
33644635644
-
DNA polymerase gamma in mitochondrial DNA replication and repair
-
M.A. Graziewicz, M.J. Longley, and W.C. Copeland DNA polymerase gamma in mitochondrial DNA replication and repair Chem Rev 106 2006 383 405
-
(2006)
Chem Rev
, vol.106
, pp. 383-405
-
-
Graziewicz, M.A.1
Longley, M.J.2
Copeland, W.C.3
-
25
-
-
33847612847
-
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
-
M.C. De Vries, R.J. Rodenburg, and E. Morava Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations Eur J Pediatr 166 2007 229 234
-
(2007)
Eur J Pediatr
, vol.166
, pp. 229-234
-
-
De Vries, M.C.1
Rodenburg, R.J.2
Morava, E.3
-
27
-
-
44849107452
-
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome
-
J. Uusimaa, R. Hinttala, and H. Rantala Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome Epilepsia 49 2008 1038 1045
-
(2008)
Epilepsia
, vol.49
, pp. 1038-1045
-
-
Uusimaa, J.1
Hinttala, R.2
Rantala, H.3
-
28
-
-
0028955157
-
Progressive neurological degeneration of childhood with liver disease (Alpers' disease) presenting in young adults
-
B.N. Harding Progressive neurological degeneration of childhood with liver disease (Alpers' disease) presenting in young adults J Neurol Neurosurg Psychiatry 58 1995 320 325
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.58
, pp. 320-325
-
-
Harding, B.N.1
-
29
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
A.H. Hakonen, P. Isohanni, A. Paetau, R. Herva, A. Suomalainen, and T. Lonnqvist Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion Brain 130 2007 3032 3040
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lonnqvist, T.6
-
30
-
-
0026469782
-
Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity
-
A.R. Bicknese, W. May, W.R. Hickey, and W.E. Dodson Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity Ann Neurol 32 1992 767 775
-
(1992)
Ann Neurol
, vol.32
, pp. 767-775
-
-
Bicknese, A.R.1
May, W.2
Hickey, W.R.3
Dodson, W.E.4
-
31
-
-
77649188407
-
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
-
R.P. Saneto, I.-C. Lee, and M.K. Koenig POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders Seizure 19 2010 140 146
-
(2010)
Seizure
, vol.19
, pp. 140-146
-
-
Saneto, R.P.1
Lee, I.-C.2
Koenig, M.K.3
-
32
-
-
66849089743
-
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI findings
-
N.I. Wolf, S. Rahman, and B. Schmitt Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI findings Epilepsia 50 2009 1596 1607
-
(2009)
Epilepsia
, vol.50
, pp. 1596-1607
-
-
Wolf, N.I.1
Rahman, S.2
Schmitt, B.3
-
33
-
-
39749121457
-
POLG1 mutations cause syndromic epilepsy with occipital lobe predilection
-
B.A. Engelsen, C. Tzoulis, and B. Karlsen POLG1 mutations cause syndromic epilepsy with occipital lobe predilection Brain 131 2008 818 828
-
(2008)
Brain
, vol.131
, pp. 818-828
-
-
Engelsen, B.A.1
Tzoulis, C.2
Karlsen, B.3
-
34
-
-
0025785934
-
EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases
-
M.H. Tulinius, and I. Hagne EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases Brain and Develop 13 1991 167 173
-
(1991)
Brain and Develop
, vol.13
, pp. 167-173
-
-
Tulinius, M.H.1
Hagne, I.2
-
35
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
A.H. Hakonen, S. Heiskanen, and V. Juvonen Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin Am J Hum Genet 77 2005 430 441
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
-
36
-
-
16844382687
-
Autosomal recessive mitochondrial ataxia syndrome due to mitochondrial polymerase gamma mutation
-
S. Winterhun, G. Ferrara, and L. He Autosomal recessive mitochondrial ataxia syndrome due to mitochondrial polymerase gamma mutation Neurology 64 2005 1204 1208
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterhun, S.1
Ferrara, G.2
He, L.3
-
40
-
-
84856695733
-
Sensory neuronopathy in patients harboring recessive polymerase γ mutations
-
N.Z. Lax, R.G. Whittaker, and P.D. Hepplewhite Sensory neuronopathy in patients harboring recessive polymerase γ mutations Brain 135 2012 62 71
-
(2012)
Brain
, vol.135
, pp. 62-71
-
-
Lax, N.Z.1
Whittaker, R.G.2
Hepplewhite, P.D.3
-
41
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
G. Van Goethem, P. Luoma, and M. Rantamaki POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement Neurology 63 2004 1251 1257
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
Van Goethem, G.1
Luoma, P.2
Rantamaki, M.3
-
42
-
-
0038082200
-
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
-
A. Simonati, M. Filosto, and C. Savio Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease) Acta Neuropathol 106 2003 57 65
-
(2003)
Acta Neuropathol
, vol.106
, pp. 57-65
-
-
Simonati, A.1
Filosto, M.2
Savio, C.3
-
43
-
-
0022510479
-
Progressive neuronal degeneration of childhood with liver disease ("Alpers disease"): Characteristic neurophysiological features
-
S.G. Boyd, A. Harden, J. Egger, and G. Pampiglione Progressive neuronal degeneration of childhood with liver disease ("Alpers disease"): Characteristic neurophysiological features Neuropediatrics 17 1986 75 80
-
(1986)
Neuropediatrics
, vol.17
, pp. 75-80
-
-
Boyd, S.G.1
Harden, A.2
Egger, J.3
Pampiglione, G.4
-
44
-
-
0035933079
-
Effect of L-carnitine treatment for valproate-induced hepatotoxicity
-
T.P. Bohan, E. Helton, and I. McDonald Effect of L-carnitine treatment for valproate-induced hepatotoxicity Neurology 56 2001 1405 1409
-
(2001)
Neurology
, vol.56
, pp. 1405-1409
-
-
Bohan, T.P.1
Helton, E.2
McDonald, I.3
-
45
-
-
38849125647
-
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1)
-
R. McFarland, G. Hudson, and R.W. Taylor Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1) Arch Dis Child 93 2008 151 153
-
(2008)
Arch Dis Child
, vol.93
, pp. 151-153
-
-
McFarland, R.1
Hudson, G.2
Taylor, R.W.3
-
46
-
-
79959869854
-
Mitochondrial hepatopathies in the newborn period
-
V. Fellman, and H. Kotarsky Mitochondrial hepatopathies in the newborn period Semin Fetal Neonatal Med 16 2011 222 228
-
(2011)
Semin Fetal Neonatal Med
, vol.16
, pp. 222-228
-
-
Fellman, V.1
Kotarsky, H.2
-
47
-
-
21244438012
-
Respiratory chain defects may present only with hypoglycemia
-
F. Mochel, A. Slama, and G. Touati Respiratory chain defects may present only with hypoglycemia J Clin Endocrinol Metab 90 2005 3780 3785
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3780-3785
-
-
Mochel, F.1
Slama, A.2
Touati, G.3
-
48
-
-
67650366898
-
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations
-
C. Giordano, H. Powell, and M. Leopizzi Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations Neurology 72 2009 11103 11105
-
(2009)
Neurology
, vol.72
, pp. 11103-11105
-
-
Giordano, C.1
Powell, H.2
Leopizzi, M.3
-
49
-
-
53149083738
-
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion
-
C. Giordano, M. Sebastiani, and R. De Giorgio Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion Am J Pathol 173 2008 1120 1128
-
(2008)
Am J Pathol
, vol.173
, pp. 1120-1128
-
-
Giordano, C.1
Sebastiani, M.2
De Giorgio, R.3
-
50
-
-
80053627112
-
Novel characterization of drug-associated pancreatitis in children
-
H.X. Bai, M.H. Ma, A.I. Orabi, S.U. Latif, V. Bhandari, and S.Z. Husain Novel characterization of drug-associated pancreatitis in children J Pediatr Gastroenterol Nutr 53 2011 423 428
-
(2011)
J Pediatr Gastroenterol Nutr
, vol.53
, pp. 423-428
-
-
Bai, H.X.1
Ma, M.H.2
Orabi, A.I.3
Latif, S.U.4
Bhandari, V.5
Husain, S.Z.6
-
51
-
-
58849102108
-
Biochemical and genetic analysis of 3-mtehylglutaconic aciduria type IV: A diagnostic strategy
-
S.B. Wortmann, R.J.T. Rodenburg, and A. Jonckheere Biochemical and genetic analysis of 3-mtehylglutaconic aciduria type IV: A diagnostic strategy Brain 132 2009 136 146
-
(2009)
Brain
, vol.132
, pp. 136-146
-
-
Wortmann, S.B.1
Rodenburg, R.J.T.2
Jonckheere, A.3
-
52
-
-
59749083796
-
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion
-
J.-W. Taanman, S. Rahman, and A.T. Pagnamenta Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion Hum Mutat 30 2009 248 254
-
(2009)
Hum Mutat
, vol.30
, pp. 248-254
-
-
Taanman, J.-W.1
Rahman, S.2
Pagnamenta, A.T.3
-
53
-
-
77954371509
-
Quantitative evaluation of the mitochondrial DNA depletion syndrome
-
D. Dimmock, L.-Y. Tang, E.S. Schmitt, and L.J. Wong Quantitative evaluation of the mitochondrial DNA depletion syndrome Clin Chem 56 2010 1119 1127
-
(2010)
Clin Chem
, vol.56
, pp. 1119-1127
-
-
Dimmock, D.1
Tang, L.-Y.2
Schmitt, E.S.3
Wong, L.J.4
-
54
-
-
33746882137
-
POLG1 mutations associated with progressive encephalopathy in childhood
-
G. Kollberg, A.-R. Moslemi, and N. Darin POLG1 mutations associated with progressive encephalopathy in childhood J Neuropathol Exp Neurol 65 2006 463 469
-
(2006)
J Neuropathol Exp Neurol
, vol.65
, pp. 463-469
-
-
Kollberg, G.1
Moslemi, A.-R.2
Darin, N.3
-
55
-
-
0037378780
-
Occipital epilepsies: Identification of specific and newly recognized syndromes
-
I. Taylor, I.E. Scheffer, and S.F. Berkovic Occipital epilepsies: Identification of specific and newly recognized syndromes Brain 126 2003 753 769
-
(2003)
Brain
, vol.126
, pp. 753-769
-
-
Taylor, I.1
Scheffer, I.E.2
Berkovic, S.F.3
-
57
-
-
2342429459
-
DNA polymerase gamma, the mitochondrial replicase
-
L.S. Kaguni DNA polymerase gamma, the mitochondrial replicase Annu Rev Biochem 73 2004 293 320
-
(2004)
Annu Rev Biochem
, vol.73
, pp. 293-320
-
-
Kaguni, L.S.1
-
58
-
-
0032514627
-
Identification of 5′deoxyribose phosphate lyase activity to human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro
-
M.J. Longley, R. Prasad, D.K. Srivastava, S.H. Wilson, and W.C. Copeland Identification of 5′deoxyribose phosphate lyase activity to human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro Proc Natl Acad Sci USA 95 1998 12244 12248
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 12244-12248
-
-
Longley, M.J.1
Prasad, R.2
Srivastava, D.K.3
Wilson, S.H.4
Copeland, W.C.5
-
59
-
-
0031032128
-
Mitochondrial DNA polymerase from yeast to man: A new family of polymerases
-
N. Lecrenier, P. Van Der Gruggen, and F. Poury Mitochondrial DNA polymerase 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 Gruggen, P.2
Poury, F.3
-
60
-
-
70349807756
-
Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations
-
Y.-S. Lee, W.D. Kennedy, and Y.W. Yin Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations Cell 139 2009 312 324
-
(2009)
Cell
, vol.139
, pp. 312-324
-
-
Lee, Y.-S.1
Kennedy, W.D.2
Yin, Y.W.3
-
61
-
-
77956245940
-
A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities, but only as a holoenzyme
-
Y.-S. Lee, I.J. Molineux, and Y.W. Yin A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities, but only as a holoenzyme J Biol Chem 285 2010 28105 28116
-
(2010)
J Biol Chem
, vol.285
, pp. 28105-28116
-
-
Lee, Y.-S.1
Molineux, I.J.2
Yin, Y.W.3
-
62
-
-
24744464580
-
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
-
S.S.L. Chan, M.J. Longley, and W.C. Copeland The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit J Biol Chem 36 2005 31341 31346
-
(2005)
J Biol Chem
, vol.36
, pp. 31341-31346
-
-
Chan, S.S.L.1
Longley, M.J.2
Copeland, W.C.3
-
63
-
-
81155124660
-
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
-
L. Euro, G.A. Farnum, E. Palin, A. Suomalainen, and L.S. Kaguni Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ Nucleic Acids Res 39 2011 9072 9084
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 9072-9084
-
-
Euro, L.1
Farnum, G.A.2
Palin, E.3
Suomalainen, A.4
Kaguni, L.S.5
-
64
-
-
33751384305
-
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders
-
S.S.L. Chan, M. Longley, and W.C. Copeland Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders Hum Mol Genet 15 2006 3473 3483
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3473-3483
-
-
Chan, S.S.L.1
Longley, M.2
Copeland, W.C.3
-
65
-
-
77953499335
-
Mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
-
J.D. Stumpf, C.M. Bailey, D. Spell, M. Stillwagon, K.S. Anderson, and W.C. Copeland Mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae Hum Mol Genet 19 2010 2123 2133
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2123-2133
-
-
Stumpf, J.D.1
Bailey, C.M.2
Spell, D.3
Stillwagon, M.4
Anderson, K.S.5
Copeland, W.C.6
-
66
-
-
77956123004
-
A cluster of pathogenic mutations in the 3′-5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation
-
K. Szczepanowska, and F. Foury A cluster of pathogenic mutations in the 3′-5′ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation Hum Mol Genet 19 2010 3516 3529
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3516-3529
-
-
Szczepanowska, K.1
Foury, F.2
-
67
-
-
67349191588
-
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations
-
S.S. Chan, and W.C. Copeland DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations Biochim Biophys Acta 1787 2009 312 319
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 312-319
-
-
Chan, S.S.1
Copeland, W.C.2
-
68
-
-
78049516212
-
Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity
-
J.D. Stewart, R. Horvath, and E. Baruffini Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity Hepatology 52 2010 1791 1796
-
(2010)
Hepatology
, vol.52
, pp. 1791-1796
-
-
Stewart, J.D.1
Horvath, R.2
Baruffini, E.3
-
69
-
-
34248212745
-
Novel mutation of human DNA polymerase γ associated with mitochondrial toxicity induced by anti-HIV treatment
-
H. Yamanaka, H. Gatanaga, and P. Kosalaraksa Novel mutation of human DNA polymerase γ associated with mitochondrial toxicity induced by anti-HIV treatment J Infect Dis 195 2007 1419 1425
-
(2007)
J Infect Dis
, vol.195
, pp. 1419-1425
-
-
Yamanaka, H.1
Gatanaga, H.2
Kosalaraksa, P.3
-
70
-
-
67049145568
-
R964C mutation of DNA polymerase γ imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity
-
C.M. Bailey, R. Kasiviswanathan, W.C. Copeland, and K.S. Anderson R964C mutation of DNA polymerase γ imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity Antimicrob Agents Chemother 53 2009 2610 2612
-
(2009)
Antimicrob Agents Chemother
, vol.53
, pp. 2610-2612
-
-
Bailey, C.M.1
Kasiviswanathan, R.2
Copeland, W.C.3
Anderson, K.S.4
-
71
-
-
33645052713
-
Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders
-
J.A. Smeitink, M. Zeviani, D.M. Turnbull, and H.T. Jacobs Mitochondrial medicine: A metabolic perspective on the pathology of oxidative phosphorylation disorders Cell Metabol 3 2006 9 13
-
(2006)
Cell Metabol
, vol.3
, pp. 9-13
-
-
Smeitink, J.A.1
Zeviani, M.2
Turnbull, D.M.3
Jacobs, H.T.4
-
72
-
-
84873948507
-
-
Naviaux RK. Alpers syndrome. Available at Orphan Net: http://www.orpha.net/consor/cgi-bin/OC-Exp.php?lng=EN&Expert=726.
-
Alpers Syndrome
-
-
Naviaux, R.K.1
-
73
-
-
34250834964
-
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European origin
-
A.H. Hakonen, G. Davidzon, and R. Salemi Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European origin Eur J Hum Genet 15 2007 779 783
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 779-783
-
-
Hakonen, A.H.1
Davidzon, G.2
Salemi, R.3
-
74
-
-
79955678344
-
Gender variability in presentation with Alpers' syndrome: A report of eight patients for the UAE
-
K. Mohamed, W. FathAllah, and E. Ahmed Gender variability in presentation with Alpers' syndrome: A report of eight patients for the UAE J Inherit Metab Dis 34 2011 439 441
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 439-441
-
-
Mohamed, K.1
Fathallah, W.2
Ahmed, E.3
-
75
-
-
30344443067
-
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population
-
E. Gonzalez-Vioque, A. Bazquez, and D. Ferandez-Moreira Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population Arch Neurol 63 2006 107 111
-
(2006)
Arch Neurol
, vol.63
, pp. 107-111
-
-
Gonzalez-Vioque, E.1
Bazquez, A.2
Ferandez-Moreira, D.3
-
76
-
-
71949129761
-
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease
-
O. Hasselmann, N. Blau, V.T. Ramaekers, E.V. Quadros, J.M. Sequeira, and M. Weissert Cerebral folate deficiency and CNS inflammatory markers in Alpers disease Mol Genet Metab 99 2010 58 61
-
(2010)
Mol Genet Metab
, vol.99
, pp. 58-61
-
-
Hasselmann, O.1
Blau, N.2
Ramaekers, V.T.3
Quadros, E.V.4
Sequeira, J.M.5
Weissert, M.6
-
77
-
-
84855355930
-
Initial experience in the treatment of inherited mitochondrial disease with EPI-743
-
G.M. Enns, S.L. Kinsman, and S.L. Perlman Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Mol Genet Metab 105 2012 91 102
-
(2012)
Mol Genet Metab
, vol.105
, pp. 91-102
-
-
Enns, G.M.1
Kinsman, S.L.2
Perlman, S.L.3
-
78
-
-
79952753140
-
Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice
-
A. Safdar, J.M. Bourgeois, and D.I. Ogborn Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice Proc Natl Acad Sci USA 108 2011 4135 4140
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 4135-4140
-
-
Safdar, A.1
Bourgeois, J.M.2
Ogborn, D.I.3
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