検索結果 - Langping He

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  1. 1
    MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

    MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle 著者: Emma L. Blakely, Anna Butterworth, Robert D. M. Hadden, István Bódi, Langping He, Robert McFarland, Robert W. Taylor

    出版事項 2012
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    Artigo
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  2. 2
    Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

    Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency 著者: Abdulraheem Ali Almalki, Charlotte L. Alston, Alasdair Parker, Ingrid Simonic, Sarju Mehta, Langping He, Mojgan Reza, Jorge M.A. Oliveira, Robert N. Lightowlers, Robert McFarland, Robert W. Taylor, Zofia M. Chrzanowska‐Lightowlers

    出版事項 2013
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    Artigo
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  3. 3
    Recessive germline<i>SDHA</i>and<i>SDHB</i>mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

    Recessive germline<i>SDHA</i>and<i>SDHB</i>mutations causing leukodystrophy and isolated mitochondrial complex II deficiency 著者: Charlotte L. Alston, James Davison, Francesca Meloni, Francois H. van der Westhuizen, Langping He, Hue‐Tran Hornig‐Do, Andrew C. Peet, Paul Gissen, P Goffrini, Ileana Ferrero, Evangeline Wassmer, Robert McFarland, Robert W. Taylor

    出版事項 2012
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    Artigo
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  4. 4
    A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

    A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency 著者: Charlotte L. Alston, Camilla Ceccatelli Berti, Emma L. Blakely, Monika Oláhová, Langping He, Colin J. McMahon, S. E. Olpin, Iain P. Hargreaves, Cecilia Nolli, Robert McFarland, P Goffrini, Maureen J. O’Sullivan, Robert W. Taylor

    出版事項 2015
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    Artigo
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  5. 5
    Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

    Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance 著者: Gavin Hudson, Patrizia Amati‐Bonneau, Emma L. Blakely, Joanna D. Stewart, Langping He, Andrew M. Schaefer, Philip G. Griffiths, Kati J. Ahlqvist, Anu Suomalainen, Pascal Reynier, Robert McFarland, Douglass M. Turnbull, Patrick F. Chinnery, Robert W. Taylor

    出版事項 2007
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    Artigo
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  6. 6
    Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

    Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure 著者: Annalinda Pisano, Bruna Cerbelli, Elena Perli, Maria Pelullo, Valentina Bargelli, Carmela Preziuso, Massimiliano Mancini, Langping He, Matthew Bates, J. Lucena, Paola Lilla Della Monica, Giuseppe Familiari, Vincenzo Petrozza, Chiara Nediani, Robert W. Taylor, Giulia d’Amati, Carla Giordano

    出版事項 2015
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    Artigo
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  7. 7
    Pathological mechanisms underlying single large‐scale mitochondrial <scp>DNA</scp> deletions

    Pathological mechanisms underlying single large‐scale mitochondrial <scp>DNA</scp> deletions 著者: Mariana C. Rocha, Hannah S. Rosa, John P. Grady, Emma L. Blakely, Langping He, Nadine Romain, Ronald G. Haller, Jane Newman, Robert McFarland, Yi Shiau Ng, Gráinne S. Gorman, Andrew M. Schaefer, Helen Tuppen, Robert W. Taylor, Douglass M. Turnbull

    出版事項 2017
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    Artigo
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  8. 8
    Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

    Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies 著者: Metodi D. Metodiev, Kyle Thompson, Charlotte L. Alston, Andrew A. M. Morris, Langping He, Zarah Assouline, Marlène Rio, Nadia Bahi‐Buisson, Angela Pyle, Helen Griffin, Stefan J. Siira, Aleksandra Filipovska, Arnold Münnich, Patrick F. Chinnery, Robert McFarland, Agnès Rötig, Robert W. Taylor

    出版事項 2016
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    Errata/Corrigenda
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  9. 9
    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 著者: Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, Anna Morgan, Michelle Simon, Helen Hilton, Chris Esapa, Yixing Wu, Heather Cater, Liz Bentley, Cheryl L. Scudamore, Joanna Poulton, Karl Morten, Kyle Thompson, Langping He, Steve D. M. Brown, Robert W. Taylor, Michael R. Bowl, Roger Cox

    出版事項 2018
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    Artigo
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  10. 10
    Metabolic effects of bezafibrate in mitochondrial disease

    Metabolic effects of bezafibrate in mitochondrial disease 著者: Hannah E. Steele, Aurora Gómez-Durán, Angela Pyle, Sila Hopton, Jane Newman, Renae J. Stefanetti, Sarah J. Charman, Jehill Parikh, Langping He, Carlo Viscomi, Djordje G. Jakovljević, Kieren G. Hollingsworth, Alan J. Robinson, Robert W. Taylor, Leonardo Bottolo, Rita Horváth, Patrick F. Chinnery

    出版事項 2020
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    Artigo
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  11. 11
    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 著者: 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

    出版事項 2014
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    Artigo
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  12. 12
    The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

    The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families 著者: Helen Tuppen, Vanessa Hogan, Langping He, Emma L. Blakely, Lisa Worgan, Mazhor Aldosary, Gabriele Saretzki, Charlotte L. Alston, Andrew A. M. Morris, Michael A. Clarke, Simon Jones, Anita Devlin, Sahar Mansour, Zofia M. Chrzanowska‐Lightowlers, David R. Thorburn, Robert McFarland, Robert W. Taylor

    出版事項 2010
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    Artigo
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  13. 13
    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency 著者: Charlotte L. Alston, Mike T. Veling, Juliana Heidler, Lucie S. Taylor, Joseph T. Alaimo, Andrew Y. Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B. Wortmann, Penelope E. Bonnen, Ilka Wittig, David J. Pagliarini, Robert W. Taylor

    出版事項 2019
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    Artigo
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  14. 14
    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

    A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency 著者: May Christine V. Malicdan, Thierry Vilboux, Bruria Ben‐Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode‐Shakked, Amir Dori, Sravan Kakani, Settara C. Chandrasekharappa, Carlos R. Ferreira, Natalia Shelestovich, Dina Marek‐Yagel, Hadass Pri‐Chen, Ilan Blatt, John E. Niederhuber, Langping He, Camilo Toro, Robert W. Taylor, John F. Deeken, Tal Yardeni, Douglas C. Wallace, William A. Gahl, Yair Anikster

    出版事項 2017
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    Artigo
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  15. 15
    Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

    Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance 著者: Penelope E. Bonnen, John W. Yarham, Arnaud Besse, Ping Chun Wu, Eissa Faqeih, Ali Alasmari, Mohammad A.M. Saleh, Wafaa Eyaid, Alrukban Hadeel, Langping He, Frances J.D. Smith, Shu Yau, Eve M. Simcox, Satomi Miwa, Taraka Donti, Khaled K. Abu‐Amero, Lee‐Jun C. Wong, William J. Craigen, Brett H. Graham, Kenneth L. Scott, Robert McFarland, Robert W. Taylor

    出版事項 2013
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    Artigo
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  16. 16
    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics 著者: Robert D. S. Pitceathly, Conrad Smith, Carl Fratter, Charlotte L. Alston, Langping He, Kate Craig, Emma L. Blakely, Julie Evans, John M. Taylor, Zarfishan Shabbir, Marcus Deschauer, Ute Pohl, Mark Roberts, Matthew Jackson, Christopher Halfpenny, Peter D. Turnpenny, Peter Lunt, Michael G. Hanna, Andrew M. Schaefer, Robert McFarland, Rita Horváth, Patrick F. Chinnery, Douglass M. Turnbull, Joanna Poulton, Robert W. Taylor, Gráinne S. Gorman

    出版事項 2012
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    Artigo
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  17. 17
    Clinical Features, Molecular Heterogeneity, and Prognostic Implications in <i>YARS2</i>-Related Mitochondrial Myopathy

    Clinical Features, Molecular Heterogeneity, and Prognostic Implications in <i>YARS2</i>-Related Mitochondrial Myopathy 著者: Ewen W. Sommerville, Yi Shiau Ng, Charlotte L. Alston, Cristina Dallabona, Micol Gilberti, Langping He, Charlotte V. Y. Knowles, Sophie L. Chin, Andrew M. Schaefer, Gavin Falkous, David Murdoch, Cheryl Longman, Marjolein Visser, Laurence A. Bindoff, John Rawles, John Dean, Richard Petty, Maria Elena Farrugia, Tobias B. Haack, Holger Prokisch, Robert McFarland, Douglass M. Turnbull, Claudia Donnini, Robert W. Taylor, Gráinne S. Gorman

    出版事項 2017
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    Artigo
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  18. 18
    <i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

    <i> <scp>OXA</scp> 1L </i> mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect 著者: Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialò, Luke E. Formosa, David A. Stroud, Madeleine Garrett, Nichola Z. Lax, Fiona Robertson, Cristina Jou, A. Nascimento, C. Ortez, C. Jimenez‐Mallebrera, Steven Hardy, Langping He, Garry K. Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J. Battersby, Penelope E. Bonnen, Michael T. Ryan, Zofia M. Chrzanowska‐Lightowlers, Robert N. Lightowlers, Robert W. Taylor

    出版事項 2018
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    Artigo
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  19. 19
    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

    Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number 著者: Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S. King, Charlotte L. Alston, Langping He, Tiziana Lodi, Simon Jones, Aviva Fattal‐Valevski, Nitay Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A. Barbosa, Michael A. Simpson, Charu Deshpande, Sanna Puusepp, Penelope E. Bonnen, Richard J. Rodenburg, Anu Suomalainen, Katrin Õunap, Orly Elpeleg, Ileana Ferrero, Robert McFarland, Edmund R.S. Kunji, Robert W. Taylor

    出版事項 2016
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    Errata/Corrigenda
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  20. 20
    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

    Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies 著者: Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery

    出版事項 2014
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    Artigo
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