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个人简介
I began my research studying the relationship of mitochondrial DNA and human disease in 1995 and became interested in the mechanisms of mitochondrial inheritance. My research has involved the identification of mitochondrial and nuclear gene defects responsible for mitochondrial disorders, dissecting out the downstream disease mechanisms, and studying the molecular and cellular basis of mitochondrial DNA inheritance - most recently through the UK 100,000 Genomes Project. I have an active clinical translational research programme studying the natural history of mitochondrial diseases linked to the development of new treatments, and an interest in the role of mitochondrial mechanisms in common diseases, and particularly neurodegenerative disorders.
研究兴趣
论文共 891 篇作者统计合作学者相似作者
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Denisa Hathazi, Camilla Lyons, Daniel Lagos, Oliver Podmanicky, Mariana Zarate-Mendez, Nell Nie,Juliane Mueller, Kieren Allison,Majlinda Lako, Eva Morava-Kozicz,Tamas Kozicz,Patrick F. Chinnery,Andras Lakatos,Rita Horvath
biorxiv(2025)
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
Nature communicationsno. 1 (2025): 2250-2250
Alva M Casey,Dylan G Ryan,Hiran A Prag,Suvagata Roy Chowdhury, Eloïse Marques,Keira Turner,Anja V Gruszczyk,Ming Yang,Dane M Wolf,Jan Lj Miljkovic, Joyce Valadares,Patrick F Chinnery, Richard C Hartley,Christian Frezza,Julien Prudent,Michael P Murphy
Nature metabolismno. 3 (2025): 493-507
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Diseasepp.521-532, (2025)
Science advancesno. 10 (2025): eadr0690-eadr0690
Eloise Marques,Stephen P Burr,Alva M Casey, Richard J Stopforth, Chak Shun Yu,Keira Turner,Dane M Wolf, Marisa Dilucca,Victoria J Tyrrell, Robbin Kramer, Yamini M Kanse, Chris A Powell,James B Stewart,Michael P Murphy,Michal Minczuk,Valerie O'Donnell,Clare E Bryant,Patrick F Chinnery,Arthur Kaser,Alexander von Kriegsheim,Dylan Gerard Ryan
biorxiv(2025)
Valentina Cipriani,Letizia Vestito,Emma F Magavern,Julius O B Jacobsen,Gavin Arno,Elijah R Behr,Katherine A Benson,Marta Bertoli,Detlef Bockenhauer,Michael R Bowl,Kate Burley,Li F Chan,Patrick Chinnery,Peter J Conlon, Marcos A Costa,Alice E Davidson,Sally J Dawson,Elhussein A E Elhassan,Sarah E Flanagan,Marta Futema,Daniel P Gale,Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin,Sophie Hambleton,Amy R Hicks,Henry Houlden,Richard S Houlston,Sarah A Howles,Robert Kleta, Iris Lekkerkerker,Siying Lin,Petra Liskova, Hannah H Mitchison,Heba Morsy,Andrew D Mumford,William G Newman,Ruxandra Neatu,Edel A O'Toole,Albert C M Ong,Alistair T Pagnamenta,Shamima Rahman,Neil Rajan,Peter N Robinson,Mina Ryten,Omid Sadeghi-Alavijeh,John A Sayer,Claire L Shovlin,Jenny C Taylor,Omri Teltsh,Ian Tomlinson,Arianna Tucci,Clare Turnbull,Albertien M van Eerde,James S Ware,Laura M Watts,Andrew R Webster,Sarah K Westbury,Sean L Zheng,Mark Caulfield,Damian Smedley
Nature (2025)
Bruce Nmezi,Guillermo Rodriguez Bey,Talia DeFrancesco Oranburg,Kseniia Dudnyk,Santana M. Lardo,Nathan Herdman,Anastasia Jacko, Sandy Rubio,Emanuel Loeza-Alcocer,Julia Kofler,Dongkyeong Kim,Julia Rankin,Emma Kivuva,Nicholas Gutowski,Katherine Schon,Jelle van den Ameele,Patrick F. Chinnery,Sérgio B. Sousa,Filipe Palavra,Camilo Toro,Filippo Pinto e Vairo, Jonas Saute,Lisa Pan,Murad Alturkustani,Robert Hammond,Francois Gros-Louis,Michael S. Gold,Yungki Park,Geneviève Bernard,Raili Raininko,Jian Zhou,Sarah J. Hainer,Quasar S. Padiath
Nature Communicationsno. 1 (2025): 1-21
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2024)
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作者统计
#Papers: 893
#Citation: 53763
H-Index: 113
G-Index: 207
Sociability: 9
Diversity: 4
Activity: 142
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