日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy

MitoPerturb-Seq 可识别基因特异性的单细胞对线粒体 DNA 耗竭和异质性的反应

Burr, Stephen P; Auckland, Kathryn; Glynos, Angelos; Dhawanjewar, Abhilesh; Ryall, Cameron; Wei, Wei; Hynes-Allen, Antony; Prater, Malwina; Sczaniecka-Clift, Matylda; Prudent, Julien; Chinnery, Patrick F; van den Ameele, Jelle

A Pre-Post Study of the Feasibility, Acceptability and Benefits of a Co-Design Approach for the Development of a Digital Suicide Prevention App for International Students

一项关于采用共同设计方法开发面向国际学生的数字自杀预防应用程序的可行性、可接受性和益处的前后测研究

Ng, Christina; Shaikh, Tanvi; Robinson, Jo; Nicholas, Jennifer; Browne, Vivienne; Chinnery, Gina; Choi, Isabella; Nation-Ingle, Bailey; Allison, Kristal; Perlow, Ella; Lamblin, Michelle; Brown, Ellie; Armstrong, Gregory; Mani, Madhavan; McKay, Samuel

Pathology and genetics in a global cohort of Parkinsonian Disorders

全球帕金森病患者队列的病理学和遗传学研究

Wu, Lesley Y; du Toit, Tessa; Georgiades, Tatiana; Stafford, Eleanor J; Levine, Kristin; Fang, Zih-Hua; Jasaityte, Simona; Martinez, Ana-Luisa Gil; Cullinane, Patrick; De Pablo Fernandez, Eduardo; Blauwendraat, Cornelis; Singleton, Andrew B; Scholz, Sonja W; Traynor, Bryan J; Wood, Nicholas; Hardy, John; Chinnery, Patrick; Houlden, Henry; Cain, Richard; Troakes, Claire; Chelban, Viorica; Serrano, Geidy E; Gveric, Djordje; McLean, Catriona; Love, Seth; King, Andrew; Robinson, Andrew C; Roncaroli, Federico; Shepherd, Claire; Halliday, Glenda; Parkkinen, Laura; Morris, Christopher M; Smith, Colin; Beach, Thomas G; Gentleman, Steve; Warner, Thomas T; Lashley, Tammaryn; Jaunmuktane, Zane; Real, Raquel; Morris, Huw R

Posthospitalization COVID-19 cognitive deficits at 1 year are global and associated with elevated brain injury markers and gray matter volume reduction

新冠肺炎患者出院一年后出现的认知功能障碍是普遍存在的,并且与脑损伤标志物升高和灰质体积减少有关。

Wood, Greta K; Sargent, Brendan F; Ahmad, Zain-Ul-Abideen; Tharmaratnam, Kukatharmini; Dunai, Cordelia; Egbe, Franklyn N; Martin, Naomi H; Facer, Bethany; Pendered, Sophie L; Rogers, Henry C; Hübel, Christopher; van Wamelen, Daniel J; Bethlehem, Richard A I; Giunchiglia, Valentina; Hellyer, Peter J; Trender, William; Kalsi, Gursharan; Needham, Edward; Easton, Ava; Jackson, Thomas A; Cunningham, Colm; Upthegrove, Rachel; Pollak, Thomas A; Hotopf, Matthew; Solomon, Tom; Pett, Sarah L; Shaw, Pamela J; Wood, Nicholas; Harrison, Neil A; Miller, Karla L; Jezzard, Peter; Williams, Guy; Duff, Eugene P; Williams, Steven; Zelaya, Fernando; Smith, Stephen M; Keller, Simon; Broome, Matthew; Kingston, Nathalie; Husain, Masud; Vincent, Angela; Bradley, John; Chinnery, Patrick; Menon, David K; Aggleton, John P; Nicholson, Timothy R; Taylor, John-Paul; David, Anthony S; Carson, Alan; Bullmore, Ed; Breen, Gerome; Hampshire, Adam; Michael, Benedict D; Paddick, Stella-Maria; Leek, E Charles

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Functionally dominant hotspot mutations of mitochondrial ribosomal RNA genes in cancer.

癌症中线粒体核糖体RNA基因的功能优势热点突变。

Boscenco Sonia, Tait-Mulder Jacqueline, Kim Minsoo, Tang Cerise, Park Tricia, McNulty Flora, Lilla Sergio, Zanivan Sara, Huerta-Uribe Alejandro, Nalbant Benan, Zucker Mark, Sumpton David, Monteuuis Geoffray, Jackson Christopher B, Wei Wei, Chinnery Patrick F, Chaligne Ronan, Lareau Caleb A, Reznik Ed, Gammage Payam A

Pro-inflammatory macrophages produce mitochondria-derived superoxide by reverse electron transport at complex I that regulates IL-1β release during NLRP3 inflammasome activation

促炎巨噬细胞通过复合物 I 的逆向电子传递产生线粒体来源的超氧化物,该超氧化物在 NLRP3 炎症小体激活过程中调节 IL-1β 的释放。

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

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

Cryptic mitochondrial DNA mutations coincide with mid-late life and are pathophysiologically informative in single cells across tissues and species

隐秘的线粒体 DNA 突变与中晚年生活相吻合,并且在跨组织和物种的单细胞中具有病理生理学意义

Alistair P Green #, Florian Klimm #, Aidan S Marshall, Rein Leetmaa, Juvid Aryaman, Aurora Gómez-Durán, Patrick F Chinnery, Nick S Jones