Hasil Pencarian - Langping He

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  1. 1
    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I oleh Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

    Diterbitkan 2020-11-01
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  2. 2
    Metabolic effects of bezafibrate in mitochondrial disease

    Metabolic effects of bezafibrate in mitochondrial disease oleh Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery

    Diterbitkan 2020-03-01
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  3. 3
    Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.

    Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. oleh John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor

    Diterbitkan 2014-06-01
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  4. 4
    A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

    A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways oleh Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, Anna Morgan, Michelle Simon, Helen Hilton, Chris Esapa, Yixing Wu, Heather Cater, Liz Bentley, Cheryl Scudamore, Joanna Poulton, Karl J. Morten, Kyle Thompson, Langping He, Steve D.M. Brown, Robert W. Taylor, Michael R. Bowl, Roger D. Cox

    Diterbitkan 2018-12-01
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  5. 5
    Expanding the clinical phenotype of IARS2-related mitochondrial disease

    Expanding the clinical phenotype of IARS2-related mitochondrial disease oleh Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

    Diterbitkan 2018-11-01
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  6. 6
    OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

    OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect oleh Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor

    Diterbitkan 2018-11-01
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