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.
288 related articles for article (PubMed ID: 26735972)
1. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. Rajakulendran S; Pitceathly RD; Taanman JW; Costello H; Sweeney MG; Woodward CE; Jaunmuktane Z; Holton JL; Jacques TS; Harding BN; Fratter C; Hanna MG; Rahman S PLoS One; 2016; 11(1):e0145500. PubMed ID: 26735972 [TBL] [Abstract][Full Text] [Related]
2. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Neeve VC; Samuels DC; Bindoff LA; van den Bosch B; Van Goethem G; Smeets H; Lombès A; Jardel C; Hirano M; Dimauro S; De Vries M; Smeitink J; Smits BW; de Coo IF; Saft C; Klopstock T; Keiling BC; Czermin B; Abicht A; Lochmüller H; Hudson G; Gorman GG; Turnbull DM; Taylor RW; Holinski-Feder E; Chinnery PF; Horvath R Brain; 2012 Dec; 135(Pt 12):3614-26. PubMed ID: 23250882 [TBL] [Abstract][Full Text] [Related]
3. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Tzoulis C; Engelsen BA; Telstad W; Aasly J; Zeviani M; Winterthun S; Ferrari G; Aarseth JH; Bindoff LA Brain; 2006 Jul; 129(Pt 7):1685-92. PubMed ID: 16638794 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. Schaller A; Hahn D; Jackson CB; Kern I; Chardot C; Belli DC; Gallati S; Nuoffer JM BMC Neurol; 2011 Jan; 11():4. PubMed ID: 21235791 [TBL] [Abstract][Full Text] [Related]
7. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Wong LJ; Naviaux RK; Brunetti-Pierri N; Zhang Q; Schmitt ES; Truong C; Milone M; Cohen BH; Wical B; Ganesh J; Basinger AA; Burton BK; Swoboda K; Gilbert DL; Vanderver A; Saneto RP; Maranda B; Arnold G; Abdenur JE; Waters PJ; Copeland WC Hum Mutat; 2008 Sep; 29(9):E150-72. PubMed ID: 18546365 [TBL] [Abstract][Full Text] [Related]
8. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Kurt B; Jaeken J; Van Hove J; Lagae L; Löfgren A; Everman DB; Jayakar P; Naini A; Wierenga KJ; Van Goethem G; Copeland WC; DiMauro S Arch Neurol; 2010 Feb; 67(2):239-44. PubMed ID: 20142534 [TBL] [Abstract][Full Text] [Related]
9. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. Hanisch F; Kornhuber M; Alston CL; Taylor RW; Deschauer M; Zierz S J Neurol Neurosurg Psychiatry; 2015 Jun; 86(6):630-4. PubMed ID: 25143630 [TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular spectrum associated with Polymerase-γ related disorders. Jha R; Patel H; Dubey R; Goswami JN; Bhagwat C; Saini L; K Manokaran R; John BM; Kovilapu UB; Mohimen A; Saxena A; Sondhi V J Child Neurol; 2022 Mar; 37(4):246-255. PubMed ID: 34986040 [TBL] [Abstract][Full Text] [Related]
11. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Winterthun S; Ferrari G; He L; Taylor RW; Zeviani M; Turnbull DM; Engelsen BA; Moen G; Bindoff LA Neurology; 2005 Apr; 64(7):1204-8. PubMed ID: 15824347 [TBL] [Abstract][Full Text] [Related]
12. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Uusimaa J; Hinttala R; Rantala H; Päivärinta M; Herva R; Röyttä M; Soini H; Moilanen JS; Remes AM; Hassinen IE; Majamaa K Epilepsia; 2008 Jun; 49(6):1038-45. PubMed ID: 18294203 [TBL] [Abstract][Full Text] [Related]
13. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. McHugh JC; Lonergan R; Howley R; O'Rourke K; Taylor RW; Farrell M; Hutchinson M; Connolly S Muscle Nerve; 2010 Feb; 41(2):265-9. PubMed ID: 19813183 [TBL] [Abstract][Full Text] [Related]
14. [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. Posada IJ; Gallardo ME; Domínguez C; Rivera H; Cabello A; Arenas J; Martín MA; Garesse R; Bornstein B Med Clin (Barc); 2010 Oct; 135(10):452-5. PubMed ID: 20576279 [TBL] [Abstract][Full Text] [Related]
15. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Zsurka G; Baron M; Stewart JD; Kornblum C; Bös M; Sassen R; Taylor RW; Elger CE; Chinnery PF; Kunz WS J Neuropathol Exp Neurol; 2008 Sep; 67(9):857-66. PubMed ID: 18716558 [TBL] [Abstract][Full Text] [Related]
16. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. González-Vioque E; Blázquez A; Fernández-Moreira D; Bornstein B; Bautista J; Arpa J; Navarro C; Campos Y; Fernández-Moreno MA; Garesse R; Arenas J; Martín MA Arch Neurol; 2006 Jan; 63(1):107-11. PubMed ID: 16401742 [TBL] [Abstract][Full Text] [Related]
17. Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Chan SS; Longley MJ; Naviaux RK; Copeland WC DNA Repair (Amst); 2005 Dec; 4(12):1381-9. PubMed ID: 16181814 [TBL] [Abstract][Full Text] [Related]