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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models HCN2相关神经发育障碍：患者数据和爪蟾细胞模型数据 Clara Houdayer MSc, MD; A. Marie Phillips PhD; Marie Chabbert PhD; Jennifer Bourreau BS; Reza Maroofian PhD; Henry Houlden MD; Kay Richards PhD; Nebal Waill Saadi MD; Eliška Dad'ová MS; Patrick Van Bogaert MD, PhD; Mailys Rupin MD; Boris Keren MD; Perrine Charles MD, PhD; Thomas Smol MD, PhD; Audrey Riquet MD; Lynn Pais MS; Anne O'Donnell-Luria MD, PhD; Grace E. VanNoy MS; Allan Bayat MD, PhD; Rikke S Møller PhD; Kern Olofsson MD; Rami Abou Jamra MD; Steffen Syrbe MD, PhD; Majed Dasouki MD; Laurie H. Seaver MD; Jennifer A. Sullivan MS; Vandana Shashi MBBS, MD; Fowzan S. Alkuraya MD; Alexis F. Poss MS; J. Edward Spence MD; Rhonda E. Schnur MD; Ian C. Forster PhD; Chaseley E. Mckenzie MS; Cas Simons PhD; Min Wang PhD; Penny Snell MGenCouns; Kavitha Kothur MD, PhD; Michael Buckley MD; Tony Roscioli MD, PhD; Noha Elserafy MD; Benjamin Dauriat MD; Vincent Procaccio MD, PhD; Daniel Henrion PharmD, PhD; Guy Lenaers PhD; Estelle Colin MD, PhD; Nienke E. Verbeek MD, PhD; Koen L. Van Gassen MD, PhD; Claire Legendre PhD; Dominique Bonneau MD, PhD; Christopher A. Reid PhD; Katherine B. Howell MBBS, PhD; Alban Ziegler MD, PhD; Christian Legros PhD 分享 收藏
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Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature (28 May, 10.1038/s41431-024-01631-w, 2024) Milon, Vincent; Malinge, Marie-Claire; Blanluet, Maud; Tessarech, Marine; Battault, Clarisse; Prestwich, Sarah; Vary, Beatrice; Gueracher, Pierre; Legoff, Louis; Barth, Magalie; Houdayer, Clara; Guichet, Agnes; Rousseau, Audrey; Bonneau, Dominique; Procaccio, Vincent; Bris, Celine; Colin, Estelle 分享 收藏
Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma Richard, Jeremy; Beauvillain, Celine; Benoit, Maxime; Barth, Magalie; Aubert, Cecile; Rolley, Cyrielle; Bellal, Sarah; Bourreau, Jennifer; Ferragu, Matthieu; Lebdai, Souhil; Chevrollier, Arnaud; Henrion, Daniel; Procaccio, Vincent; Bigot, Pierre 分享 收藏
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina 分享 收藏
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity Tessarech, Marine; Friocourt, Gaelle; Marguet, Florent; Lecointre, Maryline; Le Mao, Morgane; Diaz, Rodrigo Munoz; Mignot, Cyril; Keren, Boris; Heron, Benedicte; De Bie, Charlotte; Van Gassen, Koen; Loisel, Didier; Delorme, Benoit; Syrbe, Steffen; Klabunde-Cherwon, Annick; Abou Jamra, Rami; Wegler, Meret; Callewaert, Bert; Dheedene, Annelies; Zidane-Marinnes, Merzouka; Guichet, Agnes; Bris, Celine; Van Bogaert, Patrick; Biquard, Florence; Lenaers, Guy; Marcorelles, Pascale; Ferec, Claude; Gonzalez, Bruno; Procaccio, Vincent; Vitobello, Antonio; Bonneau, Dominique; Laquerriere, Annie; Khiati, Salim; Colin, Estelle 分享 收藏
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Lischka, Annette; Eggermann, Katja; Record, Christopher J.; Dohrn, Maike F.; Lassuthova, Petra; Kraft, Florian; Begemann, Matthias; Dey, Daniela; Eggermann, Thomas; Beijer, Danique; Soukalova, Jana; Laura, Matilde; Rossor, Alexander M.; Mazanec, Radim; Van Lent, Jonas; Tomaselli, Pedro J.; Ungelenk, Martin; Debus, Karlien Y.; Feely, Shawna M. E.; Glaeser, Dieter; Jagadeesh, Sujatha; Martin, Madelena; Govindaraj, Geeta M.; Singhi, Pratibha; Baineni, Revanth; Biswal, Niranjan; Ibarra-Ramirez, Marisol; Bonduelle, Maryse; Gess, Burkhard; Romero Sanchez, Juan; Suthar, Renu; Udani, Vrajesh; Nalini, Atchayaram; Unnikrishnan, Gopikrishnan; Marques Junior, Wilson; Mercier, Sandra; Procaccio, Vincent; Bris, Celine; Suresh, Beena; Reddy, Vaishnavi; Skorupinska, Mariola; Bonello-Palot, Nathalie; Mochel, Fanny; Dahl, Georg; Sasidharan, Karthika; Devassikutty, Fiji M.; Nampoothiri, Sheela; Rodovalho Doriqui, Maria J.; Mueller-Felber, Wolfgang; Vill, Katharina; Haack, Tobias B.; Dufke, Andreas; Abele, Michael; Stucka, Rolf; Siddiqi, Saima; Ullah, Noor; Spranger, Stephanie; Chiabrando, Deborah; Bolgul, Behiye S.; Parman, Yesim; Seeman, Pavel; Lampert, Angelika; Schulz, Joerg B.; Wood, John N.; Cox, James J.; Auer-Grumbach, Michaela; Timmerman, Vincent; de Winter, Jonathan; Themistocleous, Andreas C.; Shy, Michael; Bennett, David L.; Baets, Jonathan; Huebner, Christian A.; Leipold, Enrico; Zuchner, Stephan; Elbracht, Miriam; Cakar, Arman; Senderek, Jan; Hornemann, Thorsten; Woods, C. Geoffrey; Reilly, Mary M.; Kurth, Ingo 分享 收藏
Cellular allostatic load is linked to increased energy expenditure and accelerated biological aging 细胞的静态负荷与增加的能量消耗和加速的生物老化有关 Bobba-Alves, Natalia; Sturm, Gabriel; Lin, Jue; Ware, Sarah A.; Karan, Kalpita R.; Monzel, Anna S.; Bris, Celine; Procaccio, Vincent; Lenaers, Guy; Higgins-Chen, Albert; Levine, Morgan; Horvath, Steve; Santhanam, Balaji S.; Kaufman, Brett A.; Hirano, Michio; Epel, Elissa; Picard, Martin 分享 收藏
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants APOGEE 2：用于可解释地预测线粒体错义突变的多层机器学习模型 Bianco, Salvatore Daniele; Parca, Luca; Petrizzelli, Francesco; Biagini, Tommaso; Giovannetti, Agnese; Liorni, Niccolo; Napoli, Alessandro; Carella, Massimo; Procaccio, Vincent; Lott, Marie T.; Zhang, Shiping; Vescovi, Angelo Luigi; Wallace, Douglas C.; Caputo, Viviana; Mazza, Tommaso 分享 收藏
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects! Baide-Mairena, Heidy; Coget, Arthur; Leboucq, Nicolas; Procaccio, Vincent; Blanluet, Maud; Meyer, Pierre; Malinge, Marie-Claire; Francois-Heude, Marie-Celine; Moreno, Mathis; Genevieve, David; Marelli, Cecilia; Roubertie, Agathe 分享 收藏
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Van Haute, Lindsey; O'Connor, Emily; Diaz-Maldonado, Hector; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmueller, Hanns; Minczuk, Michal; Horvath, Rita 分享 收藏
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases Sturm, Gabriel; Karan, Kalpita R.; Monzel, Anna S.; Santhanam, Balaji; Taivassalo, Tanja; Bris, Celine; Ware, Sarah A.; Cross, Marissa; Towheed, Atif; Higgins-Chen, Albert; McManus, Meagan J.; Cardenas, Andres; Lin, Jue; Epel, Elissa S.; Rahman, Shamima; Vissing, John; Grassi, Bruno; Levine, Morgan; Horvath, Steve; Haller, Ronald G.; Lenaers, Guy; Wallace, Douglas C.; St-Onge, Marie-Pierre; Tavazoie, Saeed; Procaccio, Vincent; Kaufman, Brett A.; Seifert, Erin L.; Hirano, Michio; Picard, Martin 分享 收藏
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment 突尼斯Leigh综合征患者的下一代测序揭示了新的变异: 对诊断和治疗的影响 Hechmi, Meriem; Charif, Majida; Kraoua, Ichraf; Fassatoui, Meriem; Dallali, Hamza; Desquiret-Dumas, Valerie; Bris, Celine; Goudenege, David; Drissi, Cyrine; Galai, Said; Ouerhani, Slah; Procaccio, Vincent; Amati-Bonneau, Patrizia; Abdelhak, Sonia; Ben Youssef-Turki, Ilhem; Lenaers, Guy; Kefi, Rym 分享 收藏
Long-Term Persistence of Mitochondrial DNA Instability in HIV-Exposed Uninfected Children during and after Exposure to Antiretroviral Drugs and HIV 在暴露于抗逆转录病毒药物和HIV期间和之后，暴露于HIV的未感染儿童的线粒体DNA不稳定性的长期持久性 Desquiret-Dumas, Valerie; D'Ottavi, Morgana; Monnin, Audrey; Goudenege, David; Meda, Nicolas; Vizeneux, Amelie; Kankasa, Chipepo; Tylleskar, Thorkild; Bris, Celine; Procaccio, Vincent; Nagot, Nicolas; Van de Perre, Philippe; Reynier, Pascal; Moles, Jean-Pierre 分享 收藏
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure 谷氨酸诱导的线粒体脑病Krebs循环失调乳酸性酸中毒综合征酮体暴露可缓解中风样发作 (MELAS) 综合征 Belal, Sophie; Goudenege, David; Bocca, Cinzia; Dumont, Florent; De La Barca, Juan Manuel Chao; Desquiret-Dumas, Valerie; Gueguen, Naig; Geffroy, Guillaume; Benyahia, Rayane; Kane, Selma; Khiati, Salim; Bris, Celine; Aranyi, Tamas; Stockholm, Daniel; Inisan, Aurore; Renaud, Aurelie; Barth, Magalie; Simard, Gilles; Reynier, Pascal; Letournel, Franck; Lenaers, Guy; Bonneau, Dominique; Chevrollier, Arnaud; Procaccio, Vincent 分享 收藏
Altered Mitochondrial Opa1-Related Fusion in Mouse Promotes Endothelial Cell Dysfunction and Atherosclerosis Chehaitly, Ahmad; Guihot, Anne-Laure; Proux, Coralyne; Grimaud, Linda; Aurriere, Jade; Legouriellec, Benoit; Rivron, Jordan; Vessieres, Emilie; Tetaud, Clement; Zorzano, Antonio; Procaccio, Vincent; Joubaud, Francoise; Reynier, Pascal; Lenaers, Guy; Loufrani, Laurent; Henrion, Daniel 分享 收藏
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series Riquin, Elise; Barth, Magalie; Le Nerze, Thomas; Pasquini, Natwin; Prouteau, Clement; Colin, Estelle; Amati Bonneau, Patrizia; Procaccio, Vincent; Van Bogaert, Patrick; Duverger, Philippe; Bonneau, Dominique; Roy, Arnaud 分享 收藏
Mitochondrial DNA copy number as a prognostic marker is age-dependent in adult glioblastoma 线粒体DNA拷贝数作为成人胶质母细胞瘤的预后标志物是年龄依赖性的 Sourty, Baptiste; Dardaud, Laure-Marie; Bris, Celine; Desquiret-Dumas, Valerie; Boisselier, Blandine; Basset, Laetitia; Figarella-Branger, Dominique; Morel, Alain; Sanson, Marc; Procaccio, Vincent; Rousseau, Audrey 分享 收藏
Acetoacetate protects macrophages from lactic acidosis-induced mitochondrial dysfunction by metabolic reprograming Adam, Clement; Paolini, Lea; Gueguen, Naig; Mabilleau, Guillaume; Preisser, Laurence; Blanchard, Simon; Pignon, Pascale; Manero, Florence; Le Mao, Morgane; Morel, Alain; Reynier, Pascal; Beauvillain, Celine; Delneste, Yves; Procaccio, Vincent; Jeannin, Pascale 分享 收藏
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