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  1. 1
    Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

    Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA) por Rita Horváth

    Publicado em 2005
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  2. 2
    Mitochondria: Impaired mitochondrial translation in human disease

    Mitochondria: Impaired mitochondrial translation in human disease por Veronika Boczonadi, Rita Horváth

    Publicado em 2014
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  3. 3
    Mitochondrial DNA transcription and translation: clinical syndromes

    Mitochondrial DNA transcription and translation: clinical syndromes por Veronika Boczonadi, Giulia Ricci, Rita Horváth

    Publicado em 2018
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  4. 4
    The role of <scp>tRNA</scp> synthetases in neurological and neuromuscular disorders

    The role of <scp>tRNA</scp> synthetases in neurological and neuromuscular disorders por Veronika Boczonadi, Matthew J. Jennings, Rita Horváth

    Publicado em 2017
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  5. 5
    The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

    The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation por Florin Sasarman, Hana Antonická, Rita Horváth, Eric A. Shoubridge

    Publicado em 2011
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  6. 6
    Monitoring clinical progression with mitochondrial disease biomarkers

    Monitoring clinical progression with mitochondrial disease biomarkers por Hannah E. Steele, Rita Horváth, Jon Lyon, Patrick F. Chinnery

    Publicado em 2017
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  7. 7
    Emerging therapies for mitochondrial disorders

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

    Publicado em 2016
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  8. 8
    Mitochondrial Diseases: A Diagnostic Revolution

    Mitochondrial Diseases: A Diagnostic Revolution por Katherine Schon, Thiloka Ratnaike, Jelle van den Ameele, Rita Horváth, Patrick F. Chinnery

    Publicado em 2020
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  9. 9
    Career intentions of medical students in the UK: a national, cross-sectional study (AIMS study)

    Career intentions of medical students in the UK: a national, cross-sectional study (AIMS study) por Tomás Ferreira, Alexander M Collins, Oliver Y. Feng, Richard J. Samworth, Rita Horváth

    Publicado em 2023
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  10. 10
    Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

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

    Publicado em 2014
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  11. 11
    Revisiting mitochondrial diagnostic criteria in the new era of genomics

    Revisiting mitochondrial diagnostic criteria in the new era of genomics por Peter Witters, Ann Saada, Tomáš Honzík, Markéta Tesařová, Stephanie Kleinle, Rita Horváth, Amy Goldstein, Éva Morava

    Publicado em 2017
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  12. 12
    Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

    Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency por Veronika Boczonadi, Paul Smith, Angela Pyle, Aurora Gómez-Durán, Ulrike Schara, M. Tulinius, Patrick F. Chinnery, Rita Horváth

    Publicado em 2013
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  13. 13
    <i>SCP2</i> mutations and neurodegeneration with brain iron accumulation

    <i>SCP2</i> mutations and neurodegeneration with brain iron accumulation por Rita Horváth, David Lewis‐Smith, Konstantinos Douroudis, Jennifer Duff, Michael J. Keogh, Angela Pyle, Nicholas Fletcher, Patrick F. Chinnery

    Publicado em 2015
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  14. 14
    Altered RNA metabolism due to a homozygous<i>RBM7</i>mutation in a patient with spinal motor neuropathy

    Altered RNA metabolism due to a homozygous<i>RBM7</i>mutation in a patient with spinal motor neuropathy por Michele Giunta, Simon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gómez-Durán, Veronika Boczonadi, Orly Elpeleg, Juliane Müller, Rita Horváth

    Publicado em 2016
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  15. 15
    Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

    Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations por Brendan Payne, Ian Wilson, Charlotte A Hateley, Rita Horváth, Mauro Santibanez‐Koref, David C. Samuels, Ashley Price, Patrick F. Chinnery

    Publicado em 2011
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  16. 16
    Mitochondrial pathology in progressive cerebellar ataxia

    Mitochondrial pathology in progressive cerebellar ataxia por David Bargiela, Priya Shanmugarajah, Christine Lo, Emma L. Blakely, Robert W. Taylor, Rita Horváth, Stephen B. Wharton, Patrick F. Chinnery, Marios Hadjivassiliou

    Publicado em 2015
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  17. 17
    Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

    Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome por Grace McMacken, Sally Spendiff, Roger G. Whittaker, Emily O’Connor, Rachel Howarth, Veronika Boczonadi, Rita Horváth, Clarke R. Slater, Hanns Lochmüller

    Publicado em 2019
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  18. 18
    MFN2 mutations cause compensatory mitochondrial DNA proliferation

    MFN2 mutations cause compensatory mitochondrial DNA proliferation por Kamil S. Sitarz, Patrick Yu‐Wai‐Man, Angela Pyle, Joanna D. Stewart, Bernd Rautenstrauß, Pavel Seeman, Mary M. Reilly, Rita Horváth, Patrick F. Chinnery

    Publicado em 2012
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  19. 19
    OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

    OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules por Patrick Yu‐Wai‐Man, Kamil S. Sitarz, David C. Samuels, Philip G. Griffiths, Amy K. Reeve, Laurence A. Bindoff, Rita Horváth, Patrick F. Chinnery

    Publicado em 2010
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  20. 20
    Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

    Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity por Joanna D. Stewart, Rita Horváth, Enrico Baruffini, Iliana Ferrero, Stefanie Bulst, Paul B. Watkins, Robert J. Fontana, Christopher P. Day, Patrick F. Chinnery

    Publicado em 2010
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