PMC Articles for MedGen (Select 1393682) - PMC

Select item 45725671.

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Aurelio Reyes, Laura Melchionda, Alessia Nasca, Franco Carrara, Eleonora Lamantea, Alice Zanolini, Costanza Lamperti, Mingyan Fang, Jianguo Zhang, Dario Ronchi, Sara Bonato, Gigliola Fagiolari, Maurizio Moggio, Daniele Ghezzi, Massimo Zeviani

Am J Hum Genet. 2015 Jul 2; 97(1): 186–193. doi: 10.1016/j.ajhg.2015.05.013

PMCID:: PMC4572567

Article PDF–2.3M

Select item 35250592.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Vivienne C. M. Neeve, David C. Samuels, Laurence A. Bindoff, Bianca van den Bosch, Gert Van Goethem, Hubert Smeets, Anne Lombès, Claude Jardel, Michio Hirano, Salvatore DiMauro, Maaike De Vries, Jan Smeitink, Bart W. Smits, Ireneus F. M. de Coo, Carsten Saft, Thomas Klopstock, Bianca-Cortina Keiling, Birgit Czermin, Angela Abicht, Hanns Lochmüller, Gavin Hudson, Grainne G. Gorman, Doug M. Turnbull, Robert W. Taylor, Elke Holinski-Feder, Patrick F. Chinnery, Rita Horvath

Brain. 2012 Dec; 135(12): 3614–3626. Published online 2012 Dec 14. doi: 10.1093/brain/aws298

PMCID:: PMC3525059

Article PDF–918K

Select item 30283033.

Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy

Mika H Martikainen, Reetta Hinttala, Kari Majamaa

BMJ Case Rep. 2010; 2010: bcr0120102604. Published online 2010 Sep 29. doi: 10.1136/bcr.01.2010.2604

PMCID:: PMC3028303

Article PDF–385K

Select item 25799344.

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO

Zhirong Liu, Yao Ding, Ailian Du, Baorong Zhang, Guohua Zhao, Meiping Ding

Mol Vis. 2008; 14: 1995–2001. Published online 2008 Nov 3.

PMCID:: PMC2579934

Article PDF–2.8M

Select item 13088965.

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Henna Tyynismaa, Katja Peltola Mjosund, Sjoerd Wanrooij, Ilse Lappalainen, Emil Ylikallio, Anu Jalanko, Johannes N. Spelbrink, Anders Paetau, Anu Suomalainen

Proc Natl Acad Sci U S A. 2005 Dec 6; 102(49): 17687–17692. Published online 2005 Nov 21. doi: 10.1073/pnas.0505551102

PMCID:: PMC1308896

Article PDF–493K

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