An efficient unsupervised approach for textile defect detection through unifying texture reconstruction and semantic localization von Yang, Miao, Wei, Bing, Hao, Kuangrong, Gao, Lei, Liu, Xiaoyan, He, Langping

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

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Prevalence of mitochondrial DNA disease in adults von Schaefer, Andrew M., McFarland, Robert, Blakely, Emma L., He, Langping, Whittaker, Roger G., Taylor, Robert W., Chinnery, Patrick F., Turnbull, Douglass M.

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

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

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

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Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency von Alston, Charlotte L, Davison, James E, Meloni, Francesca, van der Westhuizen, Francois H, He, Langping, Hornig-Do, Hue-Tran, Peet, Andrew C, Gissen, Paul, Goffrini, Paola, Ferrero, Ileana, Wassmer, Evangeline, McFarland, Robert, Taylor, Robert W

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

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

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

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A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways von 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.

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

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

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy von Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W

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

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics von PITCEATHLY, Robert D. S, SMITH, Conrad, DESCHAUER, Marcus, POHL, Ute, ROBERTS, Mark E, JACKSON, Matthew C, HALFPENNY, Christopher A, TURNPENNY, Peter D, LUNT, Peter W, HANNA, Michael G, SCHAEFER, Andrew M, MCFARLAND, Robert, FRATTER, Carl, HORVATH, Rita, CHINNERY, Patrick F, TURNBULL, Douglass M, POULTON, Joanna, TAYLOR, Robert W, GORMAN, Grainne S, ALSTON, Charlotte L, LANGPING HE, CRAIG, Kate, BLAKELY, Emma L, EVANS, Julie C, TAYLOR, John, SHABBIR, Zarfishan

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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement von Perli, Elena, Pisano, Annalinda, Glasgow, Ruth I. C., Carbo, Miriam, Hardy, Steven A., Falkous, Gavin, He, Langping, Cerbelli, Bruna, Pignataro, Maria Gemma, Zacara, Elisabetta, Re, Federica, Della Monica, Paola Lilla, Morea, Veronica, Bonnen, Penelope E., Taylor, Robert W., d’Amati, Giulia, Giordano, Carla

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Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure von Al-Hussaini, Abdulrahman, MD, Faqeih, Eissa, MD, El-Hattab, Ayman W., MD, Alfadhel, Majid, Asery, Ali, MD, Alsaleem, Badr, MD, Bakhsh, Eman, MD, Ali, Ashraf, MD, Alasmari, Ali, MD, Lone, Khurram, MD, Nahari, Ahmed, MD, Eyaid, Wafaa, MD, Al Balwi, Mohammed, MD, Craig, Kate, PhD, Butterworth, Anna, BSc, He, Langping, PhD, Taylor, Robert W., PhD, FRCPath

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

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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency von Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica Ac, He, Langping, Morris, Andrew Am, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia Ma, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W

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