תוצאות חיפוש - 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 מאת Emma L. Blakely, Anna Butterworth, Robert D. M. Hadden, István Bódi, Langping He, Robert McFarland, Robert W. Taylor

    יצא לאור 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 מאת 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

    יצא לאור 2013
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 2015
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2016
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  10. 10
    Metabolic effects of bezafibrate in mitochondrial disease

    Metabolic effects of bezafibrate in mitochondrial disease מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2010
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2017
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 2013
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    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 מאת 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

    יצא לאור 2018
    קבל טקסט מלא
    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 מאת 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

    יצא לאור 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 מאת 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

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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