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

Direct AMPK Activation Confers Mutation-Independent Therapeutic Benefit in Duchenne Muscular Dystrophy

直接激活 AMPK 可赋予杜氏肌营养不良症与突变无关的治疗益处

Ng, Sean Y; Mikhail, Andrew I; Mattina, Stephanie R; Lesinski, Magda A; Rebalka, Irena A; Hamstra, Sophie I; Xhuti, Donald; Fajardo, Val A; Tarnopolsky, Mark A; Nederveen, Joshua P; Steinberg, Gregory R; Hawke, Thomas J; Ljubicic, Vladimir

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

CPT1C功能缺失变异:不支持其在遗传性痉挛性截瘫中起因果作用

Zhu, Rui; Liu, Lang; Estiar, Mehrdad A; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M; Dupre, Nicolas; Dion, Patrick A; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A; Gan-Or, Ziv

Soluble SIGLEC1 as a biomarker of disease activity in idiopathic inflammatory myopathies

可溶性SIGLEC1作为特发性炎症性肌病疾病活动的生物标志物

Barreth, Nathan; Leclair, Valérie; Hudson, Marie; Bernatsky, Sasha; Krustev, Eugene; Moran Toro, Cristina; St Pierre, Yvan; Clarke, Ashley; Sciore, Paul J A; Tarnopolsky, Mark; Fritzler, Marvin J; Choi, May Y

DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature

DEGS1相关髓鞘形成不足性脑白质营养不良:来自同一家族的四名患者及文献综述

Grinberg, Mark; Dale, Breanne; Ramachandrannair, Rajesh; Tarnopolsky, Mark; Whitney, Robyn; Ejaz, Resham

Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study

了解基因组学次要发现对临床护理和患者体验的影响:一项前瞻性观察研究方案

Assamad, Daniel; Hansen, Abigail; Fooks, Katharine; Luca, Stephanie; Venkataramanan, Viji; Hsue, Erin; Shickh, Salma; Yan, Joyce; Wu, Vercancy; Badalato, Lauren; Balci, Tugce B; Beausejour Ladouceur, Virginie; Chad, Lauren; Chisholm, Caitlin; Gillespie, Meredith K; Huang, Lijia; Jarinova, Olga; Lau, Lynette; Lee, Whiwon; Mackley, Michael P; Marshall, Christian R; Mendoza-Londono, Roberto; Morel, Chantal F; Richer, Julie; Sawyer, Sarah; Stavropoulos, Dimitri J; Szuto, Anna; Tarnopolsky, Mark; Villani, Anita; Zahavich, Laura; Somerville, Martin J; Boycott, Kym M; Ungar, Wendy J; Hayeems, Robin Z

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

主要剪接体U4和U5小核RNA基因的显性变异通过破坏剪接过程导致神经发育障碍。

Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D'Gama, Alissa M; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O'Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey

线粒体疾病患者死亡相关因素的特征分析:一项多中心横断面调查

Ivaniuk, Alina; Anselm, Irina A; Bowen, Aaron; Cohen, Bruce H; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C; Ganetzky, Rebecca D; Gannon, Jennifer; Gorman, Grainne S; Greene, Carol; Gropman, Andrea L; Haas, Richard H; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin; Lichter-Konecki, Uta; Lopriore, Piervito; Mancuso, Michelangelo; McFarland, Robert; Moe, Aye Myat; Morava, Eva; Ng, Yi Shiau; Saneto, Russell P; Scaglia, Fernando; Sue, Carolyn M; Tarnopolsky, Mark; Walker, Melissa A; Parikh, Sumit; Cheuk-Wing, Fung; Wong, Tsz-Sum; Belaramani, Kiran; Chan, Chun-Kong; Chan, Wing-Ki; Chan, Wai-Lun Larry; Cheung, Hon-Wing; Cheung, Ka-Yin; Chang, Shek-Kwan; Cheung, Sing-Ngai; Cheung, Tsz-Fung; Cheung, Yuk-Fai; Chong, Shuk-Ching Josephine; Chow, Chi-Kwan Jasmine; Chung, Hon-Yin B; Fan, Sin-Ying Florence; Fok, Wai-Ming Joshua; Fong, Ka-Wing; Fung, Tsui-Hang Sharon; Hui, Kwok-Fai; Hui, Ting-Hin; Hui, Joannie; Ko, Chun Hung; Kwan, Min-Chung; Kwok, Mei-Kwan Anne; Kwok, Sung-Shing Jeffrey; Lai, Moon-Sing; Lam, Yau-On; Lam, Ching-Wan; Lau, Ming-Chung; Law, Chun-Yiu Eric; Law, Hiu-Fung; Lee, Wing-Cheong; Hencher Lee, Han-Chih; Leung, Kin-Hang; Leung, Kit-Yan; Li, Siu-Hung; Ling, Tsz-Ki Jacky; Liu, Kam-Tim Timothy; Lo, Fai-Man; Lui, Colin; Luk, Ching-On; Luk, Ho-Ming; Ma, Che-Kwan; Ma, Karen; Ma, Kam-Hung; Mew, Yuen-Ni; Mo, Alex; Hg, Sui-Fun; Poon, Wing-Kit Grace; Sheng, Bun; Szeto, Cheuk-Ling Charing; Tai, Shuk-Mui; Tang, Jing-Liang; Tse, Choi-Ting Alan; Tsung, Li-Yan Lilian; Wong, Ho-Ming June; Wong, Wing-Yin Winnie; Wong, Kwok-Kui; Wong, Suet-Na Sheila; Wong, Chun-Nei Virginia; Wong, Wai-Shan Sammy; Wong, Chi-Kin Felix; Wu, Shun-Ping; Wu, Hiu-Fung Jerome; Yau, Man-Mut; Yau, Kin-Cheong Eric; Yeung, Wai-Lan; Yeung, Hon-Ming Jonas; Yip, Kin-Keung Edwin; Wu, Hui-Jun; Young, Pui-Hong Terence; Yuan, Gao; Yuen, Yuet-Ping Liz; Yuen, Chi-Lap

A Multi-Ingredient Supplement Improves Body Re-Composition, Ovarian Aging Markers, and Reproductive Success in Young and Middle-Aged Female Mice

一种多成分补充剂可改善年轻和中年雌性小鼠的身体成分、卵巢衰老指标和繁殖成功率

Chiarot, Alessandra; Minhas, Mahek; de Maat, Nicoletta M; Doan, Jenny; Nilsson, Mats I; Hettinga, Bart P; Faghih, Mehrnoosh; Neal, Michael S; Nederveen, Joshua P; Tarnopolsky, Mark A

Comparative effectiveness of high-intensity interval training and moderate-intensity continuous training on cardiometabolic health in patients with diabesity: a systematic review and meta-analysis of randomized controlled trials

高强度间歇训练与中等强度持续训练对糖尿病合并肥胖患者心血管代谢健康的比较效果:一项随机对照试验的系统评价和荟萃分析

Al-Mhanna, Sameer Badri; Poon, Eric Tsz-Chun; Franklin, Barry A; Tarnopolsky, Mark A; Hawley, John A; Jakicic, John M; Stamatakis, Emmanuel; Little, Jonathan P; Pescatello, Linda S; Riebe, Deborah; Thompson, Walter R; Skinner, James S; Colberg, Sheri R; Ehrman, Jonathan K; Metsios, George S; Douda, Helen T; Omar, Norsuhana; Alghannam, Abdullah F; Batrakoulis, Alexios

Impact of high-intensity interval training on cardiometabolic health in patients with diabesity: a systematic review and meta-analysis of randomized controlled trials

高强度间歇训练对糖尿病肥胖患者心血管代谢健康的影响:随机对照试验的系统评价和荟萃分析

Al-Mhanna, Sameer Badri; Franklin, Barry A; Tarnopolsky, Mark A; Hawley, John A; Jakicic, John M; Stamatakis, Emmanuel; Little, Jonathan P; Pescatello, Linda S; Riebe, Deborah; Thompson, Walter R; Skinner, James S; Colberg, Sheri R; Ehrman, Jonathan K; Metsios, George S; Douda, Helen T; Omar, Norsuhana; Alghannam, Abdullah F; Batrakoulis, Alexios