Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Robert D.S. Pitceathly"'
Autor:
Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman
Publikováno v:
EBioMedicine, Vol 30, Iss , Pp 86-93 (2018)
Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carri
Externí odkaz:
https://doaj.org/article/3670bb9d88df4ad19193530872b41183
Autor:
Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Publikováno v:
Cell Reports, Vol 3, Iss 6, Pp 1795-1805 (2013)
The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked t
Externí odkaz:
https://doaj.org/article/7f50ed1f094e41fea13e5a8a8b52cb0f
Autor:
Michio Hirano, Robert D.S. Pitceathly
Publikováno v:
Mitochondrial Diseases ISBN: 9780128217511
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7bb07619f0378f97b8b2ddbcc0cc5c4b
https://doi.org/10.1016/b978-0-12-821751-1.00018-x
https://doi.org/10.1016/b978-0-12-821751-1.00018-x
Autor:
Konstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, Anca Florian, Mehjabin Rahman, Anthony Béhin, Abdallah Fayssoil, Marion Masingue, Tanya Stojkovic, Henri Marc Bécane, Nawal Berber, Fanny Mochel, Denis Duboc, Bertrand Fontaine, Bjørg Krett, Caroline Stalens, Julie Lejeune, Robert D.S. Pitceathly, Luis Lopes, Malika Saadi, Thomas Gossios, Vincent Procaccio, Marco Spinazzi, Céline Tard, Pascal De Groote, Claire-Marie Dhaenens, Claire Douillard, Andoni Echaniz-Laguna, Ros Quinlivan, Michael G. Hanna, Ali Yilmaz, John Vissing, Pascal Laforêt, Perry Elliott, Karim Wahbi
Publikováno v:
Journal of the American College of Cardiology
Journal of the American College of Cardiology, 2022, 80 (15), pp.1421-1430. ⟨10.1016/j.jacc.2022.08.716⟩
Journal of the American College of Cardiology, 2022, 80 (15), pp.1421-1430. ⟨10.1016/j.jacc.2022.08.716⟩
International audience; Background: Patients with mitochondrial diseases are at risk of heart failure (HF) and arrhythmic major adverse cardiac events (MACE). Objectives: We developed prediction models to estimate the risk of HF and arrhythmic MACE i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02e3babcfab5edc418372f23ceac8a2
https://hal.science/hal-03837169
https://hal.science/hal-03837169
Autor:
Javier S. Bautista, Micol Falabella, Padraig J. Flannery, Michael G. Hanna, Simon J.R. Heales, Simon A.S. Pope, Robert D.S. Pitceathly
Publikováno v:
TrAC Trends in Analytical Chemistry. 157:116808
Autor:
Micol Falabella, Luis Carlos Tabara, Olivia V. Poole, Takashi Tatsuta, Shanti Lu, Cathy E. Woodward, Robyn Labrum, Channa Hewamadduma, Erika Fernandez-Vizarra, Thomas Langer, Jan-Willem Taanman, Michael G. Hanna, Julien Prudent, Antonella Spinazzola, Robert D.S. Pitceathly
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148844
Autor:
Erika Fernández-Vizarra, Sandra López-Calcerrada, Ana Sierra-Magro, Rafael Pérez-Pérez, Luke E. Formosa, Daniella H. Hock, María Illescas, Ana Peñas, Michele Brischigliaro, Shujing Ding, Ian M. Fearnley, Charalampos Tzoulis, Robert D.S. Pitceathly, Joaquín Arenas, Miguel A. Martín, David A. Stroud, Massimo Zeviani, Michael T. Ryan, Cristina Ugalde
Publikováno v:
Cell metabolism. 34(11)
The structural and functional organization of the mitochondrial respiratory chain (MRC) remains intensely debated. Here, we show the co-existence of two separate MRC organizations in human cells and postmitotic tissues, C-MRC and S-MRC, defined by th
Autor:
Alessandro Achilli, Marcella Attimonelli, Sandra R. Bacman, Antoni Barrientos, Michael V. Berridge, Stephen P. Burr, Claudia Calabrese, Francesco Maria Calabrese, Patrick F. Chinnery, Monica De Luise, Francisca Diaz, Mara Doimo, Flavia Fontanesi, Yi Fu, Payam A. Gammage, Caterina Garone, Giuseppe Gasparre, Anna Ghelli, Giulia Girolimetti, Ruth I.C. Glasgow, Aurora Gomez-Duran, Carole Grasso, Patries M. Herst, Ian James Holt, Luisa Iommarini, Dongchon Kang, Ivana Kurelac, Albert Z. Lim, Marie T. Lott, Shigeru Matsuda, Robert McFarland, Michal Minczuk, Carlos T. Moraes, Thomas J. Nicholls, Monika Oláhová, Anna Olivieri, Annika Pfeiffer, Pedro Pinheiro, Robert D.S. Pitceathly, Anna Maria Porcelli, Roberto Preste, Vincent Procaccio, Corinne Quadalti, Shamima Rahman, Aurelio Reyes, Ornella Semino, Agnel Sfeir, Zhang Shiping, Elaine Ayres Sia, Antonella Spinazzola, Alexis Stein, Karolina Szczepanowska, Adriano Tagliabracci, Robert W. Taylor, Marco Tigano, Antonio Torroni, Aleksandra Trifunovic, Chiara Turchi, Ornella Vitale, Douglas C. Wallace, Paulina H. Wanrooij, Sjoerd Wanrooij, Takehiro Yasukawa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ea1ad3b2e56937d48e7d22d8fc682a2
https://doi.org/10.1016/b978-0-12-819656-4.00024-3
https://doi.org/10.1016/b978-0-12-819656-4.00024-3