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

Developing therapeutics for rare cardiovascular diseases

开发罕见心血管疾病的治疗方法

Lerman, Joseph B; Koeberl, Dwight D; Epstein, Shilpi; Roessig, Lothar; Stan, Rodica; Halley, Meghan; Owens, Anjali T; Greenberg, Barry; Alexander, Kevin M; Day, Sharlene M; Maurer, Mathew S; Adler, Eric D; Hernandez, Adrian F; Ashley, Euan A; Felker, G Michael

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

丙酸血症临床事件发生频率特征及生物标志物评估:一项自然史研究

Schwahn, Bernd C; Berry, Gerard T; Vernon, Hilary J; Li, Hong; Merritt Ii, J Lawrence; Schiff, Manuel; Chabrol, Brigitte; De Las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight D; Burton, Barbara K; Grunewald, Stephanie; Diaz, George A; Ficicioglu, Can; Morgan, Thomas; Luo, Junxiang; Attarwala, Husain; Liang, Min; Perera, Sue; Sikirica, Vanja

Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease

对 Gaac.1826dupA 小鼠的纵向特征分析揭示了庞贝病的心脏、肌病和生化表型

Harb, Jerry F; Kan, Shih-Hsin; Christensen, Chloe L; Rha, Allisandra K; Andrade-Heckman, Perla; Kliman, Agatha; Padilla, Alejandra; Holbrook, Cora; Huang, Jeffrey Y; Koeberl, Dwight D; Wang, Raymond Y

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Efficacious genome editing in infant mice with glycogen storage disease type Ia

在患有 Ia 型糖原贮积症的幼鼠中进行有效的基因组编辑

Arnson, Benjamin; Ilich, Ekaterina; von Beck, Troy; Li, Songtao; Brooks, Elizabeth D; Gheorghiu, Dorothy; He, Gordon; Weinrub, Matthew; Chan, Sze Ying; Kang, Hye-Ri; Courtney, David; Everitt, Jeffrey I; Cullen, Bryan R; Koeberl, Dwight D

Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction

基因分析和多模态成像证实了线粒体变异 m.12148 T > C 的致病性,导致多系统功能障碍。

Kinsley Belle ,Alexander Kreymerman ,Jill L Young ,Nirmal Vadgama ,Marco H Ji ,Sandeep Randhawa ,Juan Caicedo ,Megan Wong ,Stephanie P Muscat ,Casey A Gifford ,Richard T Lee ,Jamal Nasir ,Gregory M Enns ,Ioannis Karakikes ,Andrew M Schaefer ,Robert W Taylor ,Mark Mercola ,Dwight Koeberl ,Edward H Wood

Impact-induced initiation of Snowball Earth: A model study

撞击引发雪球地球形成:模型研究

Fu, Minmin; Abbot, Dorian S; Koeberl, Christian; Fedorov, Alexey

The attenuated hepatic clearance of propionate increases cardiac oxidative stress in propionic acidemia

丙酸血症中,丙酸肝脏清除率降低会加剧心脏氧化应激。

Wang, You; Zhu, Suhong; He, Wentao; Marchuk, Hannah; Richard, Eva; Desviat, Lourdes R; Young, Sarah P; Koeberl, Dwight; Kasumov, Takhar; Chen, Xiaoxin; Zhang, Guo-Fang

Phase I study of liver depot gene therapy in late-onset Pompe disease.

针对晚发型庞贝氏症的肝脏基因治疗的I期研究

Smith Edward C, Hopkins Sam, Case Laura E, Xu Ming, Walters Crista, Dearmey Stephanie, Han Sang-Oh, Spears Tracy G, Chichester Jessica A, Bossen Edward H, Hornik Christoph P, Cohen Jennifer L, Bali Deeksha, Kishnani Priya S, Koeberl Dwight D