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Items: 1 to 20 of 134

1.

Hypertrophic olivary degeneration: A clinico-radiologic study.

Konno T, Broderick DF, Tacik P, Caviness JN, Wszolek ZK.

Parkinsonism Relat Disord. 2016 Jul;28:36-40. doi: 10.1016/j.parkreldis.2016.04.008. Epub 2016 Apr 12.

PMID:
27132500
2.

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

Filosto M, Lanzi G, Nesti C, Vielmi V, Marchina E, Galvagni A, Giliani S, Santorelli FM, Padovani A.

Mol Genet Metab Rep. 2016 Feb 27;6:70-3. doi: 10.1016/j.ymgmr.2016.02.001. eCollection 2016 Mar.

3.

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Sandford E, Bird TD, Li JZ, Burmeister M.

Am J Hum Genet. 2016 Mar 3;98(3):588-9. doi: 10.1016/j.ajhg.2016.01.009. No abstract available.

PMID:
26942291
4.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A.

PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan.

5.

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 Jan 6;11(1):e0145500. doi: 10.1371/journal.pone.0145500. eCollection 2016.

6.

Mitochondrial disease in adults: what's old and what's new?

Chinnery PF.

EMBO Mol Med. 2015 Nov 26;7(12):1503-12. doi: 10.15252/emmm.201505079. Review.

7.

Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth.

Rahn JJ, Bestman JE, Stackley KD, Chan SS.

Nucleic Acids Res. 2015 Dec 2;43(21):10338-52. doi: 10.1093/nar/gkv1139. Epub 2015 Oct 30.

8.

Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.

Singh B, Owens KM, Bajpai P, Desouki MM, Srinivasasainagendra V, Tiwari HK, Singh KK.

PLoS One. 2015 Oct 15;10(10):e0139846. doi: 10.1371/journal.pone.0139846. eCollection 2015.

9.

Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy.

Wójcik KA, Synowiec E, Polakowski P, Błasiak J, Szaflik J, Szaflik JP.

Med Sci Monit. 2015 Sep 21;21:2809-27. doi: 10.12659/MSM.894273.

10.

Canine MPV17 truncation without clinical manifestations.

Hänninen RL, Ahonen S, Màrquez M, Myöhänen MJ, Hytönen MK, Lohi H.

Biol Open. 2015 Sep 9;4(10):1253-8. doi: 10.1242/bio.013870.

11.

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.

Ahmed N, Ronchi D, Comi GP.

Int J Mol Sci. 2015 Aug 5;16(8):18054-76. doi: 10.3390/ijms160818054. Review.

12.

Mitochondrial disorders: challenges in diagnosis & treatment.

Khan NA, Govindaraj P, Meena AK, Thangaraj K.

Indian J Med Res. 2015 Jan;141(1):13-26. Review.

13.

DNA polymerase γ and disease: what we have learned from yeast.

Lodi T, Dallabona C, Nolli C, Goffrini P, Donnini C, Baruffini E.

Front Genet. 2015 Mar 17;6:106. doi: 10.3389/fgene.2015.00106. eCollection 2015. Review.

14.

Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions.

Fuke S, Kametani M, Yamada K, Kasahara T, Kubota-Sakashita M, Kujoth GC, Prolla TA, Hitoshi S, Kato T.

Ann Clin Transl Neurol. 2014 Nov;1(11):909-20. doi: 10.1002/acn3.133. Epub 2014 Oct 22.

15.

Mitochondrial DNA: impacting central and peripheral nervous systems.

Carelli V, Chan DC.

Neuron. 2014 Dec 17;84(6):1126-42. doi: 10.1016/j.neuron.2014.11.022. Review.

16.

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

Zabalza R, Nurminen A, Kaguni LS, Garesse R, Gallardo ME, Bornstein B.

BMC Res Notes. 2014 Dec 8;7:883. doi: 10.1186/1756-0500-7-883.

17.

MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.

Stumpf JD, Copeland WC.

PLoS Genet. 2014 Oct 23;10(10):e1004748. doi: 10.1371/journal.pgen.1004748. eCollection 2014 Oct.

18.

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.

Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M.

Hum Mol Genet. 2014 Dec 1;23(23):6147-62. doi: 10.1093/hmg/ddu336. Epub 2014 Jun 30.

19.

Defects of mitochondrial DNA replication.

Copeland WC.

J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30. Review.

20.

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA.

Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14.

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