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Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis 线粒体功能的罕见和常见遗传决定因素决定了肌萎缩侧索硬化的严重程度，但没有风险 Harvey, Calum; Weinreich, Marcel; Lee, James A. K.; Shaw, Allan C.; Ferraiuolo, Laura; Mortiboys, Heather; Zhang, Sai; Hop, Paul J.; Zwamborn, Ramona A. J.; van Eijk, Kristel; Julian, Thomas H.; Moll, Tobias; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Quinn, John P.; Pfaff, Abigail L.; Koks, Sulev; Poulton, Joanna; Battle, Stephanie L.; Arking, Dan E.; Snyder, Michael P.; Veldink, Jan H.; Kenna, Kevin P.; Shaw, Pamela J.; Cooper-Knock, Johnathan 分享 收藏
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability Erdinc, Direnis; Rodriguez-Luis, Alejandro; Fassad, Mahmoud R.; Mackenzie, Sarah; Watson, Christopher M.; Valenzuela, Sebastian; Xie, Xie; Menger, Katja E.; Sergeant, Kate; Craig, Kate; Hopton, Sila; Falkous, Gavin; Poulton, Joanna; Garcia-Moreno, Hector; Giunti, Paola; Aschoff, Carlos A. de Moura; Saute, Jonas A. Morales; Kirby, Amelia J.; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Grainne S.; Schaefer, Andrew M.; Gustafsson, Claes M.; Taylor, Robert W.; Falkenberg, Maria; Nicholls, Thomas J. 分享 收藏
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial Shammas, Mario K.; Huang, Xiaoping; Wu, Beverly P.; Fessler, Evelyn; Song, Insung Y.; Randolph, Nicholas P.; Li, Yan; Bleck, Christopher K. E.; Springer, Danielle A.; Fratter, Carl; Barbosa, Ines A.; Powers, Andrew F.; Quiros, Pedro M.; Lopez-Otin, Carlos; Jae, Lucas T.; Poulton, Joanna; Narendra, Derek P. 分享 收藏
Forecasting stroke-like episodes and outcomes in mitochondrial disease 预测线粒体疾病的卒中样发作和结局 Ng, Yi Shiau; Lax, Nichola Z.; Blain, Alasdair P.; Erskine, Daniel; Baker, Mark R.; Polvikoski, Tuomo; Thomas, Rhys H.; Morris, Christopher M.; Lai, Ming; Whittaker, Roger G.; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Blakely, Emma L.; Schaefer, Andrew M.; Turnbull, Doug M.; McFarland, Robert; Gorman, Grainne S. 分享 收藏
Acetyl-leucine slows disease progression in lysosomal storage disorders Kaya, Ecem; Smith, David A.; Smith, Claire; Morris, Lauren; Bremova-Ertl, Tatiana; Cortina-Borja, Mario; Fineran, Paul; Morten, Karl J.; Poulton, Joanna; Boland, Barry; Spencer, John; Strupp, Michael; Platt, Frances M. 分享 收藏
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency 代谢转变是可逆婴儿呼吸链缺陷恢复的基础 Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita 分享 收藏
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C Colaco, Alexandria; Fernandez-Suarez, Maria E.; Shepherd, Dawn; Gal, Lihi; Bibi, Chen; Chuartzman, Silvia; Diot, Alan; Morten, Karl; Eden, Emily; Porter, Forbes D.; Poulton, Joanna; Platt, Nick; Schuldiner, Maya; Platt, Frances M. 分享 收藏
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations Liu, Yi-Ting; Huang, Xiaoping; Nguyen, Diana; Shammas, Mario K.; Wu, Beverly P.; Dombi, Eszter; Springer, Danielle A.; Poulton, Joanna; Sekine, Shiori; Narendra, Derek P. 分享 收藏
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Ng, Yi Shiau; Martikainen, Mika H.; Gorman, Grainne S.; Blain, Alasdair; Bugiardini, Enrico; Bunting, Apphia; Schaefer, Andrew M.; Alston, Charlotte L.; Blakely, Emma L.; Sharma, Sunil; Hughes, Imelda; Lim, Albert; de Goede, Christian; McEntagart, Meriel; Spinty, Stefan; Horrocks, Iain; Roberts, Mark; Woodward, Cathy E.; Chinnery, Patrick F.; Horvath, Rita; Nesbitt, Victoria; Fratter, Carl; Poulton, Joanna; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Turnbull, Doug M.; McFarland, Robert 分享 收藏
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy Levene, Michelle; Bain, Murray D.; Moran, Nicholas F.; Nirmalananthan, Niranjanan; Poulton, Joanna; Scarpelli, Mauro; Filosto, Massimiliano; Mandel, Hanna; MacKinnon, Andrew D.; Fairbanks, Lynette; Pacitti, Dario; Bax, Bridget E. 分享 收藏
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A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy (vol 144, pg 913, 2019) Xu, Jiabao; Potter, Michelle; Tomas, Cara; Elson, Joanna L.; Morten, Karl J.; Poulton, Joanna; Wang, Ning; Jin, Hanqing; Hou, Zhaoxu; Huang, Wei E. 分享 收藏
A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy Xu, Jiabao; Potter, Michelle; Tomas, Cara; Elson, Joanna L.; Morten, Karl J.; Poulton, Joanna; Wang, Ning; Jin, Hanqing; Hou, Zhaoxu; Huang, Wei E. 分享 收藏
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways Agnew, Thomas; Goldsworthy, Michelle; Aguilar, Carlos; Morgan, Anna; Simon, Michelle; Hilton, Helen; Esapa, Chris; Wu, Yixing; Cater, Heather; Bentley, Liz; Scudamore, Cheryl; Poulton, Joanna; Morten, Karl J.; Thompson, Kyle; He, Langping; Brown, Steve D. M.; Taylor, Robert W.; Bowl, Michael R.; Cox, Roger D. 分享 收藏
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency Alston, Charlotte L.; Heidler, Juliana; Dibley, Marris G.; Kremer, Laura S.; Taylor, Lucie S.; Fratter, Carl; French, Courtney E.; Glasgow, Ruth I. C.; Feichtinger, Rene G.; Delon, Isabelle; Pagnamenta, Alistair T.; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjornstad, Alf; Henneke, Lisa; Gaertner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F. Lucy; Prokisch, Holger; Mayr, Johannes A.; McFarland, Robert; Poulton, Joanna; Ryan, Michael T.; Wittig, Ilka; Henneke, Marco; Taylor, Robert W. 分享 收藏
The Mitochondrion-lysosome Axis in Adaptive and Innate Immunity: Effect of Lupus Regulator Peptide P140 on Mitochondria Autophagy and NETosis Bendorius, Mykolas; Neeli, Indira; Wang, Fengjuan; Bonam, Srinivasa Reddy; Dombi, Eszter; Buron, Nelly; Borgne-Sanchez, Annie; Poulton, Joanna; Radic, Marko; Muller, Sylviane 分享 收藏
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity Ladds, Emma; Whitney, Andrea; Dombi, Eszter; Hofer, Monika; Anand, Geetha; Harrison, Victoria; Fratter, Carl; Carver, Janet; Barbosa, Ines A.; Simpson, Michael; Jayawant, Sandeep; Poulton, Joanna 分享 收藏
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia 分享 收藏
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