These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation]. Mukai M; Sugaya K; Matsubara S; Cai H; Yabe I; Sasaki H; Nakano I Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079 [TBL] [Abstract][Full Text] [Related]
4. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Horvath R; Hudson G; Ferrari G; Fütterer N; Ahola S; Lamantea E; Prokisch H; Lochmüller H; McFarland R; Ramesh V; Klopstock T; Freisinger P; Salvi F; Mayr JA; Santer R; Tesarova M; Zeman J; Udd B; Taylor RW; Turnbull D; Hanna M; Fialho D; Suomalainen A; Zeviani M; Chinnery PF Brain; 2006 Jul; 129(Pt 7):1674-84. PubMed ID: 16621917 [TBL] [Abstract][Full Text] [Related]
5. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy. Santoro L; Manganelli F; Lanzillo R; Tessa A; Barbieri F; Pierelli F; Di Giacinto G; Nigro V; Santorelli FM J Neurol; 2006 Jul; 253(7):869-74. PubMed ID: 16715201 [TBL] [Abstract][Full Text] [Related]
6. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. Tang S; Dimberg EL; Milone M; Wong LJ J Neurol; 2012 May; 259(5):862-8. PubMed ID: 21993618 [TBL] [Abstract][Full Text] [Related]
7. Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy. Martikainen MH; Hinttala R; Majamaa K BMJ Case Rep; 2010 Sep; 2010():. PubMed ID: 22778364 [TBL] [Abstract][Full Text] [Related]
8. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Agostino A; Valletta L; Chinnery PF; Ferrari G; Carrara F; Taylor RW; Schaefer AM; Turnbull DM; Tiranti V; Zeviani M Neurology; 2003 Apr; 60(8):1354-6. PubMed ID: 12707443 [TBL] [Abstract][Full Text] [Related]
9. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. Tzoulis C; Papingji M; Fiskestrand T; Røste LS; Bindoff LA Acta Neurol Scand Suppl; 2009; (189):38-41. PubMed ID: 19566497 [TBL] [Abstract][Full Text] [Related]
12. A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. Kasamo K; Nakamura M; Daimou Y; Sano A Neurosci Res; 2020 Aug; 157():58-63. PubMed ID: 31348995 [TBL] [Abstract][Full Text] [Related]
20. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Ashley N; O'Rourke A; Smith C; Adams S; Gowda V; Zeviani M; Brown GK; Fratter C; Poulton J Hum Mol Genet; 2008 Aug; 17(16):2496-506. PubMed ID: 18487244 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]