Rezultati - Horvath, Rita

Mitochondria: Impaired mitochondrial translation in human disease od Boczonadi, Veronika, Horvath, Rita

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Amyloid‐β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing od Boczonadi, Veronika, Horvath, Rita

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Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations od Müller, Juliane S, Horvath, Rita

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Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases od Müller, Juliane S., Giunta, Michele, Horvath, Rita

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Mitochondrial DNA transcription and translation: clinical syndromes od Boczonadi, Veronika, Ricci, Giulia, Horvath, Rita

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Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok (−/−) zebrafish od Munro, Benjamin, Horvath, Rita, Müller, Juliane S

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AMACR mutations cause late-onset autosomal recessive cerebellar ataxia od Dick, David, Horvath, Rita, Chinnery, Patrick F.

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How can we treat mitochondrial encephalomyopathies? approaches to therapy od Horvath, Rita, Gorman, Grainne, Chinnery, Patrick F.

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The role of tRNA synthetases in neurological and neuromuscular disorders od Boczonadi, Veronika, Jennings, Matthew J., Horvath, Rita

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Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’ od Jennings, Matthew J., Lochmüller, Angela, Atalaia, Antonio, Horvath, Rita

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Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA od Gardner, Kristian, Payne, Brendan AI, Horvath, Rita, Chinnery, Patrick F

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A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II od Zurita Rendón, Olga, Antonicka, Hana, Horvath, Rita, Shoubridge, Eric A.

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Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain od Pfeffer, Gerald, Griffin, Helen, Pyle, Angela, Horvath, Rita, Chinnery, Patrick F.

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Emerging therapies for mitochondrial disorders od Nightingale, Helen, Pfeffer, Gerald, Bargiela, David, Horvath, Rita, Chinnery, Patrick F.

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Monitoring clinical progression with mitochondrial disease biomarkers od Steele, Hannah E, Horvath, Rita, Lyon, Jon J, Chinnery, Patrick F

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Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients od Kölbel, Heike, Hathazi, Denisa, Jennings, Matthew, Horvath, Rita, Roos, Andreas, Schara, Ulrike

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Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a ‘Treatabolome’ od Tiet, May Yung, Lin, Zhiyuan, Gao, Fei, Jennings, Matthew James, Horvath, Rita

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Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts od Sitarz, Kamil S., Elliott, Hannah R., Karaman, Betül S., Relton, Caroline, Chinnery, Patrick F., Horvath, Rita

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Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature od Seed, Lydia M., Dean, Andrew, Krishnakumar, Deepa, Phyu, Poe, Horvath, Rita, Harijan, Pooja Devi

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Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes od Yu-Wai-Man, Patrick, Pyle, Angela, Griffin, Helen, Santibanez-Korev, Mauro, Horvath, Rita, Chinnery, Patrick F

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