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

Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease: A Genetic Case Report

与新冠长期综合征和心血管疾病相关的自身免疫反应:一例遗传病例报告

Safronenka, Anita; Capcha, Jose M C; Webster, Keith A; Buglo, Elena; Tamariz, Leonardo; Goldberger, Jeffrey J; Shehadeh, Lina A

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement

CADM3 变异可导致 Charcot-Marie-Tooth 病,严重影响上肢

Adriana P Rebelo, Andrea Cortese, Amit Abraham, Yael Eshed-Eisenbach, Gal Shner, Anna Vainshtein, Elena Buglo, Vladimir Camarena, Gabriel Gaidosh, Ramin Shiekhattar, Lisa Abreu, Steve Courel, Dennis K Burns, Yunhong Bai, Chelsea Bacon, Shawna M E Feely, Diana Castro, Elior Peles, Mary M Reilly, Mich

Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia

斑马鱼神经胶质甘氨酸转运蛋白突变体中视前脑活动增强与嗜睡样行为和麻醉苏醒延迟有关。

Venincasa, Michael J; Randlett, Owen; Sumathipala, Sureni H; Bindernagel, Richard; Stark, Matthew J; Yan, Qing; Sloan, Steven A; Buglo, Elena; Meng, Qing Cheng; Engert, Florian; Züchner, Stephan; Kelz, Max B; Syed, Sheyum; Dallman, Julia E

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

SORD 中的双等位基因突变会导致一种常见且可能可治疗的遗传性神经病变,并对糖尿病产生影响

Andrea Cortese #, Yi Zhu #, Adriana P Rebelo #, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J Bacon, Yunhong Bai, Dana M Bis-Brewer, Enrico Bugiardini, Elena Buglo, Matt C Danzi, Shawna M E Feely, Alkyoni Athanasiou-Fragkouli, Nourelhoda A Haridy; Inherited Neuropathy Consortium; Rosario Isasi, Al

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.

稳定 slc25a46 突变斑马鱼的遗传补偿:利用 F0 CRISPR 诱变研究遗传疾病引起的表型的案例

Buglo Elena, Sarmiento Evan, Martuscelli Nicole Belliard, Sant David W, Danzi Matt C, Abrams Alexander J, Dallman Julia E, Züchner Stephan

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

作者更正:RFC1基因内含子重复序列的双等位基因扩增是迟发性共济失调的常见病因。

Cortese, Andrea; Simone, Roberto; Sullivan, Roisin; Vandrovcova, Jana; Tariq, Huma; Yau, Wai Yan; Humphrey, Jack; Jaunmuktane, Zane; Sivakumar, Prasanth; Polke, James; Ilyas, Muhammad; Tribollet, Eloise; Tomaselli, Pedro J; Devigili, Grazia; Callegari, Ilaria; Versino, Maurizio; Salpietro, Vincenzo; Efthymiou, Stephanie; Kaski, Diego; Wood, Nick W; Andrade, Nadja S; Buglo, Elena; Rebelo, Adriana; Rossor, Alexander M; Bronstein, Adolfo; Fratta, Pietro; Marques, Wilson J; Züchner, Stephan; Reilly, Mary M; Houlden, Henry

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

ATP1A1基因突变导致显性夏科-马里-图斯病2型

Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Manganelli, Fiore; Feely, Shawna M; Bacon, Chelsea; Brožková, Dana Šafka; Haberlova, Jana; Mazanec, Radim; Tao, Feifei; Saghira, Cima; Abreu, Lisa; Courel, Steve; Powell, Eric; Buglo, Elena; Bis, Dana M; Baxter, Megan F; Ong, Royston W; Marns, Lorna; Lee, Yi-Chung; Bai, Yunhong; Isom, Daniel G; Barro-Soria, René; Chung, Ki W; Scherer, Steven S; Larsson, H Peter; Laing, Nigel G; Choi, Byung-Ok; Seeman, Pavel; Shy, Michael E; Santoro, Lucio; Zuchner, Stephan

Insights into the genotype-phenotype correlation and molecular function of SLC25A46

深入了解 SLC25A46 的基因型-表型相关性和分子功能

Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, Elena Buglo, Ion J Campeanu, Adriana P Rebelo, Andrew J Kornberg, Dean G Phelan, Zornitza Stark, Stephan Zuchner

Zebrafish: A Pharmacogenetic Model for Anesthesia

斑马鱼:麻醉药物遗传学模型

Bedell, Victoria; Buglo, Elena; Marcato, Daniel; Pylatiuk, Christian; Mikut, Ralf; Stegmaier, Johannes; Scudder, Will; Wray, Maxwell; Züchner, Stephan; Strähle, Uwe; Peravali, Ravindra; Dallman, Julia E

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

神经丝基因3'非翻译区中的隐匿性淀粉样蛋白生成元件引发轴突神经病变

Rebelo, Adriana P; Abrams, Alexander J; Cottenie, Ellen; Horga, Alejandro; Gonzalez, Michael; Bis, Dana M; Sanchez-Mejias, Avencia; Pinto, Milena; Buglo, Elena; Markel, Kasey; Prince, Jeffrey; Laura, Matilde; Houlden, Henry; Blake, Julian; Woodward, Cathy; Sweeney, Mary G; Holton, Janice L; Hanna, Michael; Dallman, Julia E; Auer-Grumbach, Michaela; Reilly, Mary M; Zuchner, Stephan