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5. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. Weiss MD; Saneto RP Muscle Nerve; 2010 Jun; 41(6):882-5. PubMed ID: 20513108 [TBL] [Abstract][Full Text] [Related]
6. Mutations of mitochondrial DNA polymerase gammaA 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 Ann Neurol; 2002 Aug; 52(2):211-9. PubMed ID: 12210792 [TBL] [Abstract][Full Text] [Related]
7. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Naviaux RK; Nguyen KV Ann Neurol; 2004 May; 55(5):706-12. PubMed ID: 15122711 [TBL] [Abstract][Full Text] [Related]
8. Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders. Copeland WC; Ponamarev MV; Nguyen D; Kunkel TA; Longley MJ Acta Biochim Pol; 2003; 50(1):155-67. PubMed ID: 12673356 [TBL] [Abstract][Full Text] [Related]
9. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Di Fonzo A; Bordoni A; Crimi M; Sara G; Del Bo R; Bresolin N; Comi GP Hum Mutat; 2003 Dec; 22(6):498-9. PubMed ID: 14635118 [TBL] [Abstract][Full Text] [Related]
10. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Van Goethem G; Dermaut B; Löfgren A; Martin JJ; Van Broeckhoven C Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686 [TBL] [Abstract][Full Text] [Related]
11. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Luoma PT; Luo N; Löscher WN; Farr CL; Horvath R; Wanschitz J; Kiechl S; Kaguni LS; Suomalainen A Hum Mol Genet; 2005 Jul; 14(14):1907-20. PubMed ID: 15917273 [TBL] [Abstract][Full Text] [Related]
12. Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hance N; Ekstrand MI; Trifunovic A Hum Mol Genet; 2005 Jul; 14(13):1775-83. PubMed ID: 15888483 [TBL] [Abstract][Full Text] [Related]
13. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Graziewicz MA; Longley MJ; Bienstock RJ; Zeviani M; Copeland WC Nat Struct Mol Biol; 2004 Aug; 11(8):770-6. PubMed ID: 15258572 [TBL] [Abstract][Full Text] [Related]
14. The unfolding clinical spectrum of POLG mutations. Blok MJ; van den Bosch BJ; Jongen E; Hendrickx A; de Die-Smulders CE; Hoogendijk JE; Brusse E; de Visser M; Poll-The BT; Bierau J; de Coo IF; Smeets HJ J Med Genet; 2009 Nov; 46(11):776-85. PubMed ID: 19578034 [TBL] [Abstract][Full Text] [Related]
15. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Van Goethem G; Schwartz M; Löfgren A; Dermaut B; Van Broeckhoven C; Vissing J Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077 [TBL] [Abstract][Full Text] [Related]
16. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Mancuso M; Filosto M; Oh SJ; DiMauro S Arch Neurol; 2004 Nov; 61(11):1777-9. PubMed ID: 15534189 [TBL] [Abstract][Full Text] [Related]
17. Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Brunetti-Pierri N; Selby K; O'Sullivan M; Hendson G; Truong C; Waters PJ; Wong LJ Neuropediatrics; 2008 Jun; 39(3):179-83. PubMed ID: 18991199 [TBL] [Abstract][Full Text] [Related]
18. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Naviaux RK; Nguyen KV Ann Neurol; 2005 Sep; 58(3):491. PubMed ID: 16130100 [No Abstract] [Full Text] [Related]
19. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Hudson G; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM; Chinnery PF Arch Neurol; 2007 Apr; 64(4):553-7. PubMed ID: 17420318 [TBL] [Abstract][Full Text] [Related]
20. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Cohen BH; Naviaux RK Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]