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

Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy

代谢途径中的修饰基因变异与莱伯氏遗传性视神经病变的外显率增加有关。

Arany, Eszter Sara; Olimpio, Catarina; Paramonov, Ida; Horvath, Rita

A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort

对罕见病队列中线粒体氨酰tRNA合成酶变异体的系统分析

Ratnaike, Thiloka E; Kule, M Eren; Paramonov, Ida; Matalonga, Leslie; Polavarapu, Kiran; Olimpio, Catarina; Horváth, Rita

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

Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience

通过评估基因型和表型数据发现线粒体DNA疾病:Solve-RD的经验

Ratnaike, Thiloka; Paramonov, Ida; Olimpio, Catarina; Hoischen, Alexander; Beltran, Sergi; Matalonga, Leslie; Horváth, Rita

Ly6/uPAR Protein from Asterias rubens Starfish Stimulates Migration and Invasion of Human Epithelial and Immune Cells

海星中的Ly6/uPAR蛋白刺激人类上皮细胞和免疫细胞的迁移和侵袭

Lyukmanova, Ekaterina N; Gornostaeva, Tamara Y; Shabelnikov, Sergey V; Shenkarev, Zakhar O; Kirpichnikov, Mikhail P; Paramonov, Alexander S; Bychkov, Maxim L

New Benzimidazole 3'-Deoxynucleosides: Synthesis and Antiherpes Virus Properties

新型苯并咪唑-3'-脱氧核苷:合成及抗疱疹病毒活性

Arnautova, Aleksandra O; Aleksakhina, Irina A; Zorina, Ekaterina A; Berzina, Maria Ya; Fateev, Ilya V; Eletskaya, Barbara Z; Antonov, Konstantin V; Smirnova, Olga S; Paramonov, Alexander S; Kayushin, Alexey L; Andronova, Valeria L; Galegov, Georgii A; Kostromina, Maria A; Zayats, Evgeny A; Karpenko, Inna L; Kotovskaya, Svetlana K; Charushin, Valery N; Esipov, Roman S; Miroshnikov, Anatoly I; Konstantinova, Irina D

Pro-Inflammatory Protein PSCA Is Upregulated in Neurological Diseases and Targets β2-Subunit-Containing nAChRs

促炎蛋白PSCA在神经系统疾病中表达上调,并靶向含有β2亚基的nAChRs

Mikhail A Shulepko ,Yuqi Che ,Alexander S Paramonov ,Milita V Kocharovskaya ,Dmitrii S Kulbatskii ,Anisia A Ivanova ,Anton O Chugunov ,Maxim L Bychkov ,Artem V Kirichenko ,Zakhar O Shenkarev ,Mikhail P Kirpichnikov ,Ekaterina N Lyukmanova

Recombinant Production, SpeciesSpecific Activity at the TRPA1 Channel, and Significance of the N-Terminal Residue of ProTx-I Toxin from Thrixopelma Pruriens Tarantula Venom

重组生产、TRPA1通道的物种特异性活性以及来自刺猬蛛毒液的ProTx-I毒素N端残基的意义

Shulepko, M A; Zhang, M; Zhivov, E A; Kulbatskii, D S; Paramonov, A S; Che, Yu; Kuznetsov, A V; Popov, A V; Kirpichnikov, M P; Shenkarev, Z O; Lyukmanova, E N

In Search of the Role of Three-Finger Starfish Proteins

寻找三指海星蛋白的作用

Ekaterina N Lyukmanova, Maxim L Bychkov, Andrei M Chernikov, Ilya D Kukushkin, Dmitrii S Kulbatskii, Sergey V Shabelnikov, Mikhail A Shulepko, Ran Zhao, Wenxiao Guo, Mikhail P Kirpichnikov, Zakhar O Shenkarev, Alexander S Paramonov