Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Patrick Chinnery"'
Autor:
Anna L. Tierney, Wajd Mohammed Alali, Thomas Scott, Karen S. Rees-Unwin, CITIID-NIHR BioResource COVID-19 Collaboration, Simon J. Clark, Richard D. Unwin, Stephen Baker, John Bradley, Patrick Chinnery, Daniel Cooper, Gordon Dougan, Ian Goodfellow, Ravindra Gupta, Nathalie Kingston, Paul J. Lehner, Paul A. Lyons, Nicholas J. Matheson, Caroline Saunders, Kenneth G. C. Smith, Charlotte Summers, James Thaventhiran, M. Estee Torok, Mark R. Toshner, Michael P. Weekes, Gisele Alvio, Sharon Baker, Areti Bermperi, Karen Brookes, Ashlea Bucke, Jo Calder, Laura Canna, Cherry Crucusio, Isabel Cruz, Ranalie de Jesus, Katie Dempsey, Giovanni Di Stephano, Jason Domingo, Anne Elmer, Julie Harris, Sarah Hewitt, Heather Jones, Sherly Jose, Jane Kennet, Yvonne King, Jenny Kourampa, Emily Li, Caroline McMahon, Anne Meadows, Vivien Mendoza, Criona O’Brien, Charmain Ocaya, Ciro Pasquale, Marlyn Perales, Jane Price, Rebecca Rastall, Carla Ribeiro, Jane Rowlands, Valentina Ruffolo, Hugo Tordesillas, Phoebe Vargas, Bensi Vergese, Laura Watson, Jieniean Worsley, Julie-Ann Zerrudo, Laura Bergamashi, Ariana Betancourt, Georgie Bower, Ben Bullman, Chiara Cossetti, Aloka De Sa, Benjamin J. Dunmore, Maddie Epping, Stuart Fawke, Stefan Gräf, Richard Grenfell, Andrew Hinch, Josh Hodgson, Christopher Huang, Oisin Huhn, Kelvin Hunter, Isobel Jarvis, Emma Jones, Maša Josipović, Ekaterina Legchenko, Daniel Lewis, Joe Marsden, Jennifer Martin, Federica Mescia, Ciara O’Donnell, Ommar Omarjee, Marianne Perera, Linda Pointon, Nicole Pond, Nathan Richoz, Nika Romashova, Natalia Savoinykh, Rahul Sharma, Joy Shih, Mateusz Strezlecki, Rachel Sutcliffe, Tobias Tilly, Zhen Tong, Carmen Treacy, Lori Turner, Jennifer Wood, Marta Wylot, John Allison, Heather Biggs, John R. Bradley, Helen Butcher, Daniela Caputo, Matt Chandler, Debbie Clapham-Riley, Eleanor Dewhurst, Christian Fernandez, Anita Furlong, Barbara Graves, Jennifer Gray, Sabine Hein, Tasmin Ivers, Emma Le Gresley, Rachel Linger, Mary Kasanicki, Rebecca King, Sarah Meloy, Alexei Moulton, Francesca Muldoon, Nigel Ovington, Sofia Papadia, Christopher J. Penkett, Isabel Phelan, Venkatesh Ranganath, Roxana Paraschiv, Abigail Sage, Jennifer Sambrook, Ingrid Scholtes, Katherine Schon, Hannah Stark, Kathleen E. Stirrups, Paul Townsend, Neil Walker, Jennifer Webster, Mayurun Selvan, Petra Polgarova, Sarah L. Caddy, Laura G. Caller, Yasmin Chaudhry, Martin D. Curran, Theresa Feltwell, Stewart Fuller, Iliana Georgana, Grant Hall, William L. Hamilton, Myra Hosmillo, Charlotte J. Houldcroft, Rhys Izuagbe, Aminu S. Jahun, Fahad A. Khokhar, Anna G. Kovalenko, Luke W. Meredith, Surendra Parmar, Malte L. Pinckert, Anna Yakovleva, Emily C. Horner, Lucy Booth, Alexander Ferreira, Rebecca Boston, Robert Hughes, Juan Carlos Yam Puc, Nonantzin Beristain-Covarrubias, Maria Rust, Thevinya Gurugama, Lihinya Gurugama, Thomas Mulroney, Sarah Spencer, Zhaleh Hosseini, Kate Williamson
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
The SARS-CoV-2 virus continues to cause significant morbidity and mortality worldwide from COVID-19. One of the major challenges of patient management is the broad range of symptoms observed. While the majority of individuals experience relatively mi
Externí odkaz:
https://doaj.org/article/4444200414e542b7b34418236337cf72
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years
Externí odkaz:
https://doaj.org/article/70206dc27674413fa32490ea7b8a6294
Autor:
Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/0e4b801abb444498b21632827b1c6ec4
Autor:
Maria Ban, Joanna Elson, Amie Walton, Douglas Turnbull, Alastair Compston, Patrick Chinnery, Stephen Sawcer
Publikováno v:
PLoS ONE, Vol 3, Iss 8, p e2891 (2008)
Several lines of evidence suggest that mitochondrial genetic factors may influence susceptibility to multiple sclerosis. To explore this hypothesis further, we re-sequenced the mitochondrial genome (mtDNA) from 159 patients with multiple sclerosis an
Externí odkaz:
https://doaj.org/article/3f5d3d3c8971499d967a20b7bd2f992a
This new edition of Evaluation and Treatment of Myopathies is written for the clinician who sees patients with muscle disease, or the patient with complaints of pain or weakness of muscle. Like the original, this new edition is divided in to 3 primar
Autor:
Patrick Chinnery
Publikováno v:
Cambridge Prisms: Precision Medicine. 1
Mitochondria play a key role in cell homeostasis as a major source of intracellular energy (adenosine triphosphate), and as metabolic hubs regulating many canonical cell processes. Mitochondrial dysfunction has been widely documented in many common d
Autor:
Katherine Schon, Patrick Chinnery
Publikováno v:
Neurology. 100(1)
Autor:
Patrick Chinnery, Marcos Chiaratti
Publikováno v:
Pharmacological research. 185
Until recently it was thought that most humans only harbor one type of mitochondrial DNA (mtDNA), however, deep sequencing and single-cell analysis has shown the converse - that mixed populations of mtDNA (heteroplasmy) are the norm. This is importan
Autor:
Thiloka Ratnaike, Daniel Greene, Ida Paramanov, Leslie Matalonga, Katherine Schon, Jelle van den Ameele, Rita Horvath, Ernest Turro, Patrick Chinnery
Publikováno v:
British Paediatric Neurology Association.