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Cecilia Nolli et al.
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Jonathan A. Stefely et al.
MOLECULAR CELL (2015)
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Maria Andrea Desbats et al.
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Theresa P. T. Nguyen et al.
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Mara Doimo et al.
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Leonardo Salviati et al.
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Charlotte L. Alston et al.
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Expression of the human atypical kinase ADCK3 rescues coenzyme Q biosynthesis and phosphorylation of Coq polypeptides in yeast coq8 mutants
Letian X. Xie et al.
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Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders
Marco Spinazzi et al.
MITOCHONDRION (2011)
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy
Sabrina Sacconi et al.
NEUROMUSCULAR DISORDERS (2010)
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Eva Trevisson et al.
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Clotilde Lagier-Tourenne et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
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Julie Mollet et al.
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Jose M. Lopez-Martin et al.
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Organelle isolation: functional mitochondria from mouse liver, muscle and cultured filroblasts
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Endogenous synthesis of coenzyme Q in eukaryotes
UyenPhuong C. Tran et al.
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Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
Enrico Baruffini et al.
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M Forsgren et al.
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A Lode et al.
YEAST (2002)
A defect in coenzyme Q biosynthesis is responsible for the respiratory deficiency in Saccharomyces cerevisiae abc1 mutants
TQ Do et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)