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

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

P-1020. Real-World Effectiveness and Health-Related Quality of Life Improvements Using Fecal Microbiota, Live-jslm for the Prevention of Recurrent Clostridioides difficile Infection

P-1020. 真实世界中利用粪便微生物群(Live-jslm)预防复发性艰难梭菌感染的有效性及健康相关生活质量改善

Sarti, Elena; Chenet, Tatiana; Stevanin, Claudia; Costa, Valentina; Cavazzini, Alberto; Catani, Martina; Martucci, Annalisa; Precisvalle, Nicola; Beltrami, Giada; Pasti, Luisa; Hengel, Richard L; Krishnan, Sujatha; Ritter, Timothy E; Rosenberg, Jonathan A; Baker, Kathy A; Van Anglen, Lucinda J; Hanna, Kelly E; Moosapanah, Mielad; Seo, Sanghyuk; Garey, Kevin W

Psychological distress as a central mediator of suicidal ideation among Brazilian veterinarians: A study of occupational stress, compassion fatigue, coping strategies, and workplace environment using structural equation modeling

心理困扰作为巴西兽医自杀意念的核心中介因素:一项基于结构方程模型的职业压力、同情疲劳、应对策略和工作场所环境研究

Gresele, Bianca Stevanin; Pereira, Jefferson Luiz; da Silva, Alexandre Redson Soares; Scavacini, Karen; Lyrio-Carvalho, Helena C; Ulisses, Sofia Marques Viana; Rosa, Anderson da Silva

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

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment

转录组分析强化了spatacsin在神经炎症和神经发育中的意义

Liriopé Toupenet Marchesi, Daniel Stockholm, Typhaine Esteves, Marion Leblanc, Nicolas Auger, Julien Branchu, Khalid Hamid El Hachimi, Giovanni Stevanin

Bridging the gap in bloodstream infection management: a survey among non-infectious disease physicians

弥合血液感染管理方面的差距:一项针对非传染病医生的调查

Mori, Giovanni; Zandonà, Emanuela; Campomori, Annalisa; Scarparo, Claudio; Urru, Silvana Annamaria; Stevanin, Gloria; Lorenzin, Giovanni; Ripa, Marco; Castelli, Alessandro; Prezzavento, Alessia; Carli, Alberto; Lombardo, Carla; Lanzafame, Massimiliano

Editorial: Translational research in hereditary spastic paraplegias: filling the diagnosis gap and therapeutic perspectives

社论:遗传性痉挛性截瘫的转化研究:填补诊断空白和治疗前景

Martinuzzi, Andrea; Blackstone, Craig; Stevanin, Giovanni

Globalizing newborn screening: bridging gaps in genetic diagnosis and treatment

新生儿筛查全球化:弥合基因诊断和治疗方面的差距

Tariq, Huma; Salpietro, Vincenzo; Houlden, Henry; Stevanin, Giovanni