Ngā hua rapu - Rita Horváth

Whakamahine hua
  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) mā Rita Horváth

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Mitochondria: Impaired mitochondrial translation in human disease

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Mitochondrial DNA transcription and translation: clinical syndromes

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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Veronika Boczonadi, Matthew J. Jennings, Rita Horváth

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā Florin Sasarman, Hana Antonická, Rita Horváth, Eric A. Shoubridge

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Monitoring clinical progression with mitochondrial disease biomarkers

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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  7. 7
    Emerging therapies for mitochondrial disorders

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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Revisão
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  8. 8
    Mitochondrial Diseases: A Diagnostic Revolution

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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Revisão
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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) mā Tomás Ferreira, Alexander M Collins, Oliver Y. Feng, Richard J. Samworth, Rita Horváth

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Kamil S. Sitarz, Hannah R. Elliott, Betül S Karaman, Caroline L. Relton, Patrick F. Chinnery, Rita Horváth

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Peter Witters, Ann Saada, Tomáš Honzík, Markéta Tesařová, Stephanie Kleinle, Rita Horváth, Amy Goldstein, Éva Morava

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Veronika Boczonadi, Paul Smith, Angela Pyle, Aurora Gómez-Durán, Ulrike Schara, M. Tulinius, Patrick F. Chinnery, Rita Horváth

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Rita Horváth, David Lewis‐Smith, Konstantinos Douroudis, Jennifer Duff, Michael J. Keogh, Angela Pyle, Nicholas Fletcher, Patrick F. Chinnery

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Michele Giunta, Simon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gómez-Durán, Veronika Boczonadi, Orly Elpeleg, Juliane Müller, Rita Horváth

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Brendan Payne, Ian Wilson, Charlotte A Hateley, Rita Horváth, Mauro Santibanez‐Koref, David C. Samuels, Ashley Price, Patrick F. Chinnery

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Mitochondrial pathology in progressive cerebellar ataxia

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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Grace McMacken, Sally Spendiff, Roger G. Whittaker, Emily O’Connor, Rachel Howarth, Veronika Boczonadi, Rita Horváth, Clarke R. Slater, Hanns Lochmüller

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    MFN2 mutations cause compensatory mitochondrial DNA proliferation

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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā Patrick Yu‐Wai‐Man, Kamil S. Sitarz, David C. Samuels, Philip G. Griffiths, Amy K. Reeve, Laurence A. Bindoff, Rita Horváth, Patrick F. Chinnery

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Joanna D. Stewart, Rita Horváth, Enrico Baruffini, Iliana Ferrero, Stefanie Bulst, Paul B. Watkins, Robert J. Fontana, Christopher P. Day, Patrick F. Chinnery

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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