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

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)神经发育和神经退行性疾病的表型谱扩展,新增38例患者

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L E Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

更正:布莱恩特-李-博伊综合征(Bryant-Li-Bhoj syndrome)是一种神经发育和神经退行性疾病,其表型谱已扩展,新增了38例患者。

Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I; Nowaczyk, M J M; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R Frank; Meuwissen, Marije; Cocanougher, Benjamin T; Taylor, Kathryn; Pizoli, Carolyn E; McDonald, Marie T; James, Philip; Roeder, Elizabeth R; Littlejohn, Rebecca; Borja, Nicholas A; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L E; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J K; Bryant, Laura M

Synthesis and Evaluation of Halogenated Pralidoximes in Reactivation of Organophosphate-Inhibited Cholinesterases

卤代碘解磷定在有机磷酸酯抑制的胆碱酯酶再活化中的合成与评价

Knittelova, Karolina; Prchalova, Eliska; Fuchsova, Adela; Andrys, Rudolf; Kohoutova, Zuzana; Rademacherova, Sara; Prchal, Lukas; Musilek, Kamil; Malinak, David

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation

一例由SLC5A7复合杂合错义变异引起的先天性肌无力综合征20型新病例提示了基因型-表型相关性的趋势。

Vlckova, Marketa; Prchalova, Darina; Zimmermann, Pavel; Haberlova, Jana; Bendova, Sarka; Moslerova, Veronika; Stranecky, Viktor; Sedlacek, Zdenek; Hancarova, Miroslava

Glutamine Antagonist JHU-083 Normalizes Aberrant Hippocampal Glutaminase Activity and Improves Cognition in APOE4 Mice

谷氨酰胺拮抗剂 JHU-083 可使异常海马谷氨酰胺酶活性恢复正常并改善 APOE4 小鼠的认知能力

Kristen R Hollinger, Xiaolei Zhu, Elizabeth S Khoury, Ajit G Thomas, Kevin Liaw, Carolyn Tallon, Ying Wu, Eva Prchalova, Atsushi Kamiya, Camilo Rojas, Sujatha Kannan, Barbara S Slusher

Glutamine blockade induces divergent metabolic programs to overcome tumor immune evasion

谷氨酰胺阻断诱导不同的代谢程序以克服肿瘤免疫逃逸

Leone, Robert D; Zhao, Liang; Englert, Judson M; Sun, Im-Meng; Oh, Min-Hee; Sun, Im-Hong; Arwood, Matthew L; Bettencourt, Ian A; Patel, Chirag H; Wen, Jiayu; Tam, Ada; Blosser, Richard L; Prchalova, Eva; Alt, Jesse; Rais, Rana; Slusher, Barbara S; Powell, Jonathan D

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

NKAP基因错义突变导致转录调控紊乱,其特征为马凡氏体型和认知障碍。

Fiordaliso, Sarah K; Iwata-Otsubo, Aiko; Ritter, Alyssa L; Quesnel-Vallières, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E V; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke

Glutamine antagonism attenuates physical and cognitive deficits in a model of MS

谷氨酰胺拮抗剂可减轻多发性硬化症模型中的身体和认知缺陷。

Kristen R Hollinger ,Matthew D Smith ,Leslie A Kirby ,Eva Prchalova ,Jesse Alt ,Rana Rais ,Peter A Calabresi ,Barbara S Slusher

JHU-083 selectively blocks glutaminase activity in brain CD11b+ cells and prevents depression-associated behaviors induced by chronic social defeat stress

JHU-083 选择性阻断脑 CD11b+ 细胞中的谷氨酰胺酶活性,并预防因慢性社交挫败压力引起的抑郁相关行为

Xiaolei Zhu, Michael T Nedelcovych, Ajit G Thomas, Yuto Hasegawa, Aisa Moreno-Megui, Wade Coomer, Varun Vohra, Atsushi Saito, Gabriel Perez, Ying Wu, Jesse Alt, Eva Prchalova, Lukáš Tenora, Pavel Majer, Rana Rais, Camilo Rojas, Barbara S Slusher, Atsushi Kamiya

Teaching a difficult topic using a problem-based concept resembling a computer game: development and evaluation of an e-learning application for medical molecular genetics

利用类似电脑游戏的基于问题的概念来教授一个复杂的主题:医学分子遗传学电子学习应用程序的开发与评估

Prochazkova, Kamila; Novotny, Petr; Hancarova, Miroslava; Prchalova, Darina; Sedlacek, Zdenek