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28. 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]
29. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Van Goethem G; Mercelis R; Löfgren A; Seneca S; Ceuterick C; Martin JJ; Van Broeckhoven C Neurology; 2003 Dec; 61(12):1811-3. PubMed ID: 14694057 [TBL] [Abstract][Full Text] [Related]
30. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. Luoma P; Melberg A; Rinne JO; Kaukonen JA; Nupponen NN; Chalmers RM; Oldfors A; Rautakorpi I; Peltonen L; Majamaa K; Somer H; Suomalainen A Lancet; 2004 Sep 4-10; 364(9437):875-82. PubMed ID: 15351195 [TBL] [Abstract][Full Text] [Related]
31. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Mancuso M; Filosto M; Bellan M; Liguori R; Montagna P; Baruzzi A; DiMauro S; Carelli V Neurology; 2004 Jan; 62(2):316-8. PubMed ID: 14745080 [TBL] [Abstract][Full Text] [Related]
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34. 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]
35. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Sommerville EW; Dalla Rosa I; Rosenberg MM; Bruni F; Thompson K; Rocha M; Blakely EL; He L; Falkous G; Schaefer AM; Yu-Wai-Man P; Chinnery PF; Hedstrom L; Spinazzola A; Taylor RW; Gorman GS Clin Genet; 2020 Feb; 97(2):276-286. PubMed ID: 31600844 [TBL] [Abstract][Full Text] [Related]
36. Novel mutation in spacer region of POLG associated with ataxia neuropathy spectrum and gastroparesis. Bostan A; Glibert G; Dachy B; Dan B Auton Neurosci; 2012 Sep; 170(1-2):70-2. PubMed ID: 22805437 [TBL] [Abstract][Full Text] [Related]
37. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. Hoff KE; DeBalsi KL; Sanchez-Quintero MJ; Longley MJ; Hirano M; Naini AB; Copeland WC PLoS One; 2018; 13(8):e0203198. PubMed ID: 30157269 [TBL] [Abstract][Full Text] [Related]
38. 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]