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Tags: 2005, Akman HO, Backlog, Bonilla E, Cytochrome-c Oxidase Deficiency/complications/genetics/pathology, De Vivo DC, DiMauro S, DNA Mutational Analysis, Female, Frameshift Mutation, Humans, Infant, Journal Article, Journal of Child Neurology, Kidney Diseases/etiology, Leigh Disease/complications/genetics/pathology, Male, Membrane Proteins, Mitochondrial Proteins, Morales A, Morales JF, Muscle, Newborn, Phenotype, Proteins/genetics, Q3 Scoping Review Results, Sacconi S, Shanske S, Skeletal/pathology, Tay SK
Tags: 2006, Adolescent, Backlog, Bohm M, Carrier Proteins, Child, Cytochrome-c Oxidase Deficiency/diagnosis/genetics/mortality, Czech Republic, DNA, Female, Hansikova H, Houstek J, Houstkova H, Humans, Infant, Journal Article, Karczmarewicz E, Male, Membrane Proteins, Mierzewska H, Mitochondrial Proteins, Mitochondrial/genetics, Mutation, Newborn, Pediatric Research, Piekutowska-Abramczuk D, Poland, Preschool, Prognosis, Pronicka E, Pronicki M, Proteins/genetics, Q3 Scoping Review Results, Sequence Deletion, Slovakia, Sykut-Cegielska J, Tesarova M, Vesela K, Zeman J
Tags: 2004, Adult, Backlog, Brain, Child, Di Donato S, DNA, DNA/genetics, Electron Transport/genetics, Gene Rearrangement/genetics, Humans, Journal Article, Mitochondrial Diseases/genetics/therapy, Mitochondrial/genetics, Mutation, Oxidative Phosphorylation, Point Mutation/genetics, Proteins/genetics, Zeviani M
Tags: 2001, Animal, Backlog, Child, Chromosome Mapping, Current Opinion in Neurology, Genetic, Genotype, Human, Infant, Journal Article, Membrane Proteins/genetics, Mitchison HM, Models, Mole SE, Neuronal Ceroid-Lipofuscinosis/diagnosis/genetics/therapy, Phenotype, Phosphoprotein Phosphatase/genetics, Proteins/genetics