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Items: 1 to 20 of 39

1.

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.

Kaufmann P, Engelstad K, Wei Y, Kulikova R, Oskoui M, Sproule DM, Battista V, Koenigsberger DY, Pascual JM, Shanske S, Sano M, Mao X, Hirano M, Shungu DC, Dimauro S, De Vivo DC.

Neurology. 2011 Nov 29;77(22):1965-71. doi: 10.1212/WNL.0b013e31823a0c7f. Epub 2011 Nov 16.

2.

POLG-related disorders: defects of the nuclear and mitochondrial genome interaction.

Milone M, Benarroch EE, Wong LJ.

Neurology. 2011 Nov 15;77(20):1847-52. doi: 10.1212/WNL.0b013e318238863a. Review. No abstract available.

PMID:
22084276
3.

Alpers syndrome with mutations in POLG: clinical and investigative features.

Hunter MF, Peters H, Salemi R, Thorburn D, Mackay MT.

Pediatr Neurol. 2011 Nov;45(5):311-8. doi: 10.1016/j.pediatrneurol.2011.07.008.

PMID:
22000311
4.

Mitochondrial function and pathology in status epilepticus.

Bindoff LA.

Epilepsia. 2011 Oct;52 Suppl 8:6-7. doi: 10.1111/j.1528-1167.2011.03223.x.

5.

Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations.

Hinnell C, Haider S, Delamont S, Clough C, Hadzic N, Samuel M.

Mov Disord. 2012 Jan;27(1):162-3. doi: 10.1002/mds.23960. Epub 2011 Sep 28. No abstract available.

PMID:
21956653
6.

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PMID:
21880868
7.

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Euro L, Farnum GA, Palin E, Suomalainen A, Kaguni LS.

Nucleic Acids Res. 2011 Nov;39(21):9072-84. doi: 10.1093/nar/gkr618. Epub 2011 Aug 8. Review.

8.

POLG1 manifestations in childhood.

Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.

Neurology. 2011 Mar 1;76(9):811-5. doi: 10.1212/WNL.0b013e31820e7b25.

PMID:
21357833
9.

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

Orsucci D, Caldarazzo Ienco E, Mancuso M, Siciliano G.

J Mol Neurosci. 2011 May;44(1):17-24. doi: 10.1007/s12031-010-9488-9. Epub 2011 Jan 8. Review.

PMID:
21221844
10.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.

11.

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Stumpf JD, Copeland WC.

Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Review.

12.

Complex hyperkinetic movement disorders associated with POLG mutations.

Synofzik M, Schüle R, Schulte C, Krüger R, Lindig T, Schöls L, Asmus F.

Mov Disord. 2010 Oct 30;25(14):2472-5. doi: 10.1002/mds.23307. No abstract available.

PMID:
20818669
13.

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.

Cohen BH, Naviaux RK.

Methods. 2010 Aug;51(4):364-73. doi: 10.1016/j.ymeth.2010.05.008. Epub 2010 Jun 15. Review.

PMID:
20558295
14.

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Eerola J, Luoma PT, Peuralinna T, Scholz S, Paisan-Ruiz C, Suomalainen A, Singleton AB, Tienari PJ.

Neurosci Lett. 2010 Jun 14;477(1):1-5. doi: 10.1016/j.neulet.2010.04.021. Epub 2010 Apr 24.

15.

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. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2.

PMID:
19578034
16.

Ancient mtDNA genetic variants modulate mtDNA transcription and replication.

Suissa S, Wang Z, Poole J, Wittkopp S, Feder J, Shutt TE, Wallace DC, Shadel GS, Mishmar D.

PLoS Genet. 2009 May;5(5):e1000474. doi: 10.1371/journal.pgen.1000474. Epub 2009 May 8.

17.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.

J Med Genet. 2009 Mar;46(3):209-14. doi: 10.1136/jmg.2008.058180.

PMID:
19251978
18.

A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease.

Khusnutdinova E, Gilyazova I, Ruiz-Pesini E, Derbeneva O, Khusainova R, Khidiyatova I, Magzhanov R, Wallace DC.

Ann N Y Acad Sci. 2008 Dec;1147:1-20. doi: 10.1196/annals.1427.001.

PMID:
19076426
19.

Mitochondria as chi.

Wallace DC.

Genetics. 2008 Jun;179(2):727-35. doi: 10.1534/genetics.104.91769. Review. No abstract available.

20.

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.

Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L, Zeviani M.

Neuromuscul Disord. 2008 Jun;18(6):465-70. doi: 10.1016/j.nmd.2008.03.013. Epub 2008 May 27.

PMID:
18504126

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