1 |
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
61
54
|
Weiss MD...Saneto RP
|
20513108 |
2010 |
2 |
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
61
54
|
Stumpf JD...Copeland WC
|
20185557 |
2010 |
3 |
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
61
54
|
Tzoulis C...Bindoff LA
|
20400524 |
2010 |
4 |
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
61
54
|
Fratter C...Taylor RW
|
20479361 |
2010 |
5 |
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
61
54
|
Hong D...Yuan Y
|
19705478 |
2010 |
6 |
Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo.
61
54
|
Baqri RM...Miller KE
|
19924234 |
2009 |
7 |
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
61
54
|
Stewart JD...Taylor RW
|
19251978 |
2009 |
8 |
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
61
54
|
Goffart S...Spelbrink JN
|
18971204 |
2009 |
9 |
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
54
61
|
Tzoulis C...Bindoff LA
|
19566497 |
2009 |
10 |
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
61
54
|
Virgilio R...Comi GP
|
18575922 |
2008 |
11 |
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
54
61
|
Invernizzi F...Zeviani M
|
18502641 |
2008 |
12 |
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.
61
54
|
Graziewicz MA...Copeland WC
|
17725985 |
2007 |
13 |
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions.
61
54
|
Wilcox RA...Thyagarajan D
|
17357142 |
2007 |
14 |
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
61
54
|
Hudson G...Chinnery PF
|
17420318 |
2007 |
15 |
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
61
54
|
Pagnamenta AT...Rahman S
|
16595552 |
2006 |
16 |
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
54
61
|
Baruffini E...Ferrero I
|
16940310 |
2006 |
17 |
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
54
61
|
Longley MJ...Chinnery PF
|
16685652 |
2006 |
18 |
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
61
54
|
Kasahara T...Kato T
|
16619054 |
2006 |
19 |
Early-onset familial parkinsonism due to POLG mutations.
54
61
|
Davidzon G...DiMauro S
|
16634032 |
2006 |
20 |
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
61
54
|
Gonzalez-Vioque E...Martin MA
|
16401742 |
2006 |
21 |
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia.
61
54
|
Stuart GR...Copeland WC
|
16368709 |
2006 |
22 |
Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility.
54
61
|
Yin H...Pardue MT
|
16303948 |
2005 |
23 |
The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.
54
61
|
Sharer JD
|
16203679 |
2005 |
24 |
Consequences of mutations in human DNA polymerase gamma.
61
54
|
Longley MJ...Copeland WC
|
15913923 |
2005 |
25 |
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
54
61
|
Deschauer M...Zierz S
|
15792871 |
2005 |
26 |
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
61
54
|
Mancuso M...DiMauro S
|
15534189 |
2004 |
27 |
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
54
61
|
Van Goethem G...Van Broeckhoven C
|
15477547 |
2004 |
28 |
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
61
54
|
Luoma P...Suomalainen A
|
15351195 |
2004 |
29 |
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
54
61
|
Graziewicz MA...Copeland WC
|
15258572 |
2004 |
30 |
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
61
54
|
Mancuso M...Carelli V
|
14745080 |
2004 |
31 |
Patient homozygous for a recessive POLG mutation presents with features of MERRF.
61
54
|
Van Goethem G...Van Broeckhoven C
|
14694057 |
2003 |
32 |
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
54
61
|
Del Bo R...Comi GP
|
14557557 |
2003 |
33 |
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
54
61
|
Filosto M...DiMauro S
|
12975295 |
2003 |
34 |
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
61
54
|
Van Goethem G...Van Broeckhoven C
|
12872260 |
2003 |
35 |
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
61
54
|
Van Goethem G...Vissing J
|
12825077 |
2003 |
36 |
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
54
61
|
Agostino A...Zeviani M
|
12707443 |
2003 |
37 |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
54
61
|
Van Goethem G...Van Broeckhoven C
|
12565911 |
2003 |
38 |
Error catastrophe in mutant mitochondria.
54
61
|
Hoopes LL
|
14603013 |
2002 |
39 |
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
61
54
|
Lamantea E...Zeviani M
|
12210792 |
2002 |
40 |
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
61
54
|
Ponamarev MV...Copeland WC
|
11897778 |
2002 |
41 |
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases.
54
61
|
Filosto M...Tomelleri G
|
11907800 |
2002 |
42 |
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
61
54
|
Hirano M...Vu TH
|
11735376 |
2001 |
43 |
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
54
61
|
Napoli L...Comi GP
|
11756613 |
2001 |
44 |
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
54
61
|
Van Goethem G...Van Broeckhoven C
|
11431686 |
2001 |
45 |
Flux control of cytochrome c oxidase in human skeletal muscle.
61
54
|
Kunz WS...Villani G
|
10869362 |
2000 |
46 |
[Molecular studies in Cuban patients with progressive external ophthalmoplegia].
61
54
|
Rodriguez-Hernandez M...DiMauro S
|
10904941 |
2000 |
47 |
Superoxide dismutases of muscle in mitochondrial encephalomyopathies.
61
54
|
Ohkoshi N...Yoshizawa K
|
7565923 |
1995 |
48 |
"All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study.
54
61
|
Matsuoka T...Nonaka I
|
8381519 |
1993 |
49 |
Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy.
54
61
|
Haginoya K...Tada K
|
8386896 |
1993 |
50 |
Enzyme activity analyses along ragged-red and normal single muscle fibres.
54
61
|
Reichmann H
|
1330995 |
1992 |