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

Charles Weissmann (1931–2025), an outstanding and captivating molecular biologist

查尔斯·魏斯曼(1931–2025),一位杰出而富有魅力的分子生物学家

van Rheenen, Wouter; van der Spek, Rick A A; Bakker, Mark K; van Vugt, Joke J F A; Hop, Paul J; Zwamborn, Ramona A J; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H P; van Eijk, Kristel R; Kooyman, Maarten; Byrne, Ross P; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E; Shaw, Pamela J; Hardy, John; Orrell, Richard W; Sendtner, Michael; Meyer, Thomas; Başak, Nazli; van der Kooi, Anneke J; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Sorarù, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chiò, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stéphanie; Meininger, Vincent; Salachas, François; Mora Pardina, Jesus S; Assialioui, Abdelilah; Rojas-García, Ricardo; Dion, Patrick A; Ross, Jay P; Ludolph, Albert C; Weishaupt, Jochen H; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A M; Saker-Delye, Safa; Wood, Nicholas W; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C; Olsen, Catherine M; Uitterlinden, Andre G; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nöthen, Markus M; Amouyel, Philippe; Traynor, Bryan J; Singleton, Andrew B; Mitne Neto, Miguel; Cauchi, Ruben J; Ophoff, Roel A; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Jörk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W; Steinbach, Robert; Hübner, Christian A; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaž; Zidar, Janez; Ravnik-Glavač, Metka; Glavač, Damjan; Stević, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P; Kiernan, Matthew C; Benyamin, Beben; Henderson, Robert D; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A; Needham, Merrilee; Ngo, Shyuan T; Nicholson, Garth A; Pamphlett, Roger; Rowe, Dominic B; Steyn, Frederik J; Williams, Kelly L; Mather, Karen A; Sachdev, Perminder S; Henders, Anjali K; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A; Silani, Vincenzo; Curtis, Charles J; Breen, Gerome; Glass, Jonathan D; Brown, Robert H Jr; Landers, John E; Shaw, Christopher E; Andersen, Peter M; Groen, Ewout J N; van Es, Michael A; Pasterkamp, R Jeroen; Fan, Dongsheng; Garton, Fleur C; McRae, Allan F; Davey Smith, George; Gaunt, Tom R; Eberle, Michael A; Mill, Jonathan; McLaughlin, Russell L; Hardiman, Orla; Kenna, Kevin P; Wray, Naomi R; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H; Veldink, Jan H; Borst, Piet; Flavell, Richard A

Development and characterization of 3D spinal cord organoids to advance the study of amyotrophic lateral sclerosis

开发和表征三维脊髓类器官以推进肌萎缩侧索硬化症的研究

Bordoni, Matteo; Scarian, Eveljn; Messa, Letizia; Garofalo, Maria; Jacchetti, Emanuela; Raimondi, Manuela Teresa; Diamanti, Luca; Gagliardi, Stella; Carelli, Stephana; Cereda, Cristina; Pansarasa, Orietta

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

对一个家族三人组中 POLR3A 变异的研究提示了突变特异性致病机制:来自整合组学方法的启示

Rey, Federica; Casamassa, Alessia; Di Cristofano, Samuele; Esposito, Letizia; Soriano, Amata Amy; Messa, Letizia; Berardo, Clarissa; Hazrati, Mahsa; Ferrone, Ilaria; Bonnet, Maxime; Bruschi, Fabio; Vaia, Ylenia; Marano, Massimo; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Zuccotti, Gianvincenzo; Vescovi, Angelo Luigi; Raimondo, Domenico; Rosati, Jessica; Carelli, Stephana; Cereda, Cristina

Dietary pattern and nutritional assessment in a cohort of mothers identified by neonatal screening for cobalamin deficiency in offspring: an Italian single center experience

一项针对新生儿筛查中发现后代存在钴胺素缺乏症的母亲队列的饮食模式和营养评估:意大利单中心经验

Tosi, Martina; Tagi, Veronica Maria; Colombo, Alice; Cecchini, Alessandra; Zobele, Marianna; Montanari, Chiara; Ferraro, Simona; Bosetti, Alessandra; Bonaventura, Eleonora; Bruschi, Fabio; De Zan, Diego; Fiore, Giulia; Cereda, Cristina; Zuccotti, Gianvincenzo; Verduci, Elvira

Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation

自闭症谱系障碍儿童氨基酸模式:初步生化评估

Ferraro, Simona; Saielli, Laura; Biganzoli, Davide; Tosi, Martina; Guidi, Laura; Longo, Roberto; Severino, Francesca; Carelli, Stephana; Rossi, Maura; Pisciotta, Livia; Ricci, Emilia; Brustia, Francesca; Verduci, Elvira; Zuccotti, Gianvincenzo; Mussap, Michele; Cereda, Cristina

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

一项针对患有VI型胶原蛋白相关肌病的大型意大利队列的COL6A1、COL6A2和COL6A3致病变异的全国性报告

Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca

Expanded Newborn Screening in Italy: The First Report of Lombardy Region

意大利扩大新生儿筛查范围:伦巴第大区首份报告

Berardo, Clarissa; Vasco, Alessandra; Mauri, Alessia; Lucchi, Simona; Cappelletti, Laura; Saielli, Laura; Rizzetto, Manuela; Biganzoli, Davide; Montrasio, Cristina; Postorivo, Diana; Pratiffi, Elisa; Meta, Andrea; Carelli, Stephana; Amorosi, Alessandro; Paci, Sabrina; Cefalo, Graziella; Furlan, Francesca; Menni, Francesca; Gasperini, Serena; Crescitelli, Viola; Banderali, Giuseppe; Zuccotti, Gianvincenzo; Alberti, Luisella; Cereda, Cristina

Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31

更正:Berardo 等人,《意大利新生儿筛查扩展:伦巴第地区的首份报告》,《国际新生儿筛查杂志》,2025 年,11,31。

Berardo, Clarissa; Vasco, Alessandra; Mauri, Alessia; Lucchi, Simona; Cappelletti, Laura; Saielli, Laura; Rizzetto, Manuela; Biganzoli, Davide; Montrasio, Cristina; Postorivo, Diana; Donnorso, Michela Perrone; Pratiffi, Elisa; Meta, Andrea; Carelli, Stephana; Amorosi, Alessandro; Paci, Sabrina; Cefalo, Graziella; Furlan, Francesca; Menni, Francesca; Gasperini, Serena; Crescitelli, Viola; Banderali, Giuseppe; Zuccotti, Gianvincenzo; Alberti, Luisella; Cereda, Cristina

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

线粒体乙酰乙酰辅酶A硫解酶缺乏症:新生儿筛查发现三例新病例,证实C4OH升高的重要性

Vasco, Alessandra; Berardo, Clarissa; Lucchi, Simona; Cappelletti, Laura; Tamburello, Giulio; Fazzone, Salvatore; Mauri, Alessia; Fiumani, Francesca; Postorivo, Diana; Alberti, Luisella; Perrone Donnorso, Michela; Gasperini, Serena; Furlan, Francesca; Fiori, Laura; Carelli, Stephana; Saielli, Laura Assunta; Montrasio, Cristina; Cereda, Cristina

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study

意大利新生儿X连锁肾上腺脑白质营养不良筛查:一项为期4年的试点研究的临床和生化结果

Bonaventura, Eleonora; Bruschi, Fabio; Alberti, Luisella; Antonello, Clara; Arrigoni, Filippo; Balestriero, Marina; Borsani, Barbara; Cappelletti, Laura; Cattaneo, Elisa; Ferrario, Matilde; Fiore, Giulia; Iascone, Maria; Izzo, Giana; Lucchi, Simona; Parazzini, Cecilia; Perrone Donnorso, Michela; Spaccini, Luigina; Vaia, Ylenia; Veggiotti, Pierangelo; Verduci, Elvira; Zuccotti, Gianvincenzo; Cereda, Cristina; Tonduti, Davide; Xald-Nbs Study Group