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Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. by Anna-Karin Berglund, Clara Navarrete, Martin K M Engqvist, Emily Hoberg, Zsolt Szilagyi, Robert W Taylor, Claes M Gustafsson, Maria Falkenberg, Anders R Clausen
Published 2017-02-01Get full text
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Mutations in mitochondrial DNA causing tubulointerstitial kidney disease. by Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John A Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell
Published 2017-03-01Get full text
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Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity by Samantha Corrà, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Sirelin Sillamaa, Emily Hoberg, Katarina A. S. Johansson, Urska Rovsnik, Sara Volta, Pedro Silva-Pinheiro, Hannah Davis, Aleksandra Trifunovic, Michal Minczuk, Claes M. Gustafsson, Anu Suomalainen, Massimo Zeviani, Bertil Macao, Xuefeng Zhu, Maria Falkenberg, Carlo Viscomi
Published 2025-05-01Get full text
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Published 2023-04-01Get full text
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GRB 221009A: The B.O.A.T. Burst that Shines in Gamma Rays by M. Axelsson, M. Ajello, M. Arimoto, L. Baldini, J. Ballet, M. G. Baring, C. Bartolini, D. Bastieri, J. Becerra Gonzalez, R. Bellazzini, B. Berenji, E. Bissaldi, R. D. Blandford, R. Bonino, P. Bruel, S. Buson, R. A. Cameron, R. Caputo, P. A. Caraveo, E. Cavazzuti, C. C. Cheung, G. Chiaro, N. Cibrario, S. Ciprini, G. Cozzolongo, P. Cristarella Orestano, M. Crnogorcevic, A. Cuoco, S. Cutini, F. D’Ammando, S. De Gaetano, N. Di Lalla, A. Dinesh, R. Di Tria, L. Di Venere, A. Domínguez, S. J. Fegan, E. C. Ferrara, A. Fiori, A. Franckowiak, Y. Fukazawa, S. Funk, P. Fusco, G. Galanti, F. Gargano, C. Gasbarra, S. Germani, F. Giacchino, N. Giglietto, M. Giliberti, R. Gill, F. Giordano, M. Giroletti, J. Granot, D. Green, I. A. Grenier, S. Guiriec, M. Gustafsson, M. Hashizume, E. Hays, J. W. Hewitt, D. Horan, T. Kayanoki, M. Kuss, A. Laviron, J. Li, I. Liodakis, F. Longo, F. Loparco, L. Lorusso, B. Lott, M. N. Lovellette, P. Lubrano, S. Maldera, D. Malyshev, A. Manfreda, G. Martí-Devesa, R. Martinelli, I. Martinez Castellanos, M. N. Mazziotta, J. E. McEnery, I. Mereu, M. Meyer, P. F. Michelson, N. Mirabal, W. Mitthumsiri, T. Mizuno, P. Monti-Guarnieri, M. E. Monzani, T. Morishita, A. Morselli, I. V. Moskalenko, M. Negro, R. Niwa, N. Omodei, M. Orienti, E. Orlando, D. Paneque, G. Panzarini, M. Persic, M. Pesce-Rollins, V. Petrosian, R. Pillera, F. Piron, T. A. Porter, G. Principe, J. L. Racusin, S. Rainò, R. Rando, B. Rani, M. Razzano, S. Razzaque, A. Reimer, O. Reimer, F. Ryde, M. Sánchez-Conde, P. M. Saz Parkinson, D. Serini, C. Sgrò, V. Sharma, E. J. Siskind, G. Spandre, P. Spinelli, D. J. Suson, H. Tajima, D. Tak, J. B. Thayer, D. F. Torres, J. Valverde, G. Zaharijas, (Fermi LAT collaboration), S. Lesage, M. S. Briggs, E. Burns, S. Bala, P. N. Bhat, W. H. Cleveland, S. Dalessi, C. de Barra, M. Gibby, M. M. Giles, R. Hamburg, B. A. Hristov, D. Kocevski, C. M. Hui, B. Mailyan, C. Malacaria, S. McBreen, S. Poolakkil, O. J. Roberts, L. Scotton, P. Veres, A. von Kienlin, C. A. Wilson-Hodge, J. Wood, (Fermi GBM collaboration)
Published 2025-01-01Get full text
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