Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency-Reference-Cited by-同舟云学术

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Published:2010-12-17 Issue:1 Volume:134 Page:183-195
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Kemp John P.,Smith Paul M.,Pyle Angela,Neeve Vivienne C. M.,Tuppen Helen A. L.,Schara Ulrike,Talim Beril,Topaloglu Haluk,Holinski-Feder Elke,Abicht Angela,Czermin Birgit,Lochmüller Hanns,McFarland Robert,Chinnery Patrick F.,Chrzanowska-Lightowlers Zofia M.A.,Lightowlers Robert N.,Taylor Robert W.,Horvath Rita

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/134/1/183/16696705/awq320.pdf

Reference41 articles.

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2. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect;Antonicka;Am J Hum Genet,2010

3. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1;Antonicka;Hum Mol Genet,2006

4. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation;Barthélémy;Ann Neurol,2001

5. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA);Bykhovskaya;Am J Hum Genet,2004

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