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

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

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.

突触和膜兴奋性基因中的隐蔽剪接将 TDP-43 的缺失与神经元功能障碍联系起来

Guo Caiwei, Chen Kuchuan, Vatsavayai Sarat C, Akiyama Tetsuya, Zeng Yi, Liu Chang, Sianto Odilia, Yang Edith, Bombosch Juliane, Powell Rasheen, Zhen Shannon, Mekhoubad Shila, Morrie Ryan D, Miller Georgiana, Green Eric M, Petrucelli Leonard, Seeley William W, Gitler Aaron D

Small molecule inhibition of glycogen synthase I reduces muscle glycogen content and improves biomarkers in a mouse model of Pompe disease.

小分子抑制糖原合成酶 I 可降低庞贝氏症小鼠模型的肌肉糖原含量并改善生物标志物

Gaspar Rafael Calais, Sakuma Ikki, Nasiri Ali, Hubbard Brandon T, LaMoia Traci E, Leitner Brooks P, Tep Samnang, Xi Yannan, Green Eric M, Ullman Julie C, Petersen Kitt Falk, Shulman Gerald I

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

作者更正:FinnGen 提供了来自一个表型特征明确的孤立群体的遗传学见解

Kurki, Mitja I; Karjalainen, Juha; Palta, Priit; Sipilä, Timo P; Kristiansson, Kati; Donner, Kati M; Reeve, Mary P; Laivuori, Hannele; Aavikko, Mervi; Kaunisto, Mari A; Loukola, Anu; Lahtela, Elisa; Mattsson, Hannele; Laiho, Päivi; Della Briotta Parolo, Pietro; Lehisto, Arto A; Kanai, Masahiro; Mars, Nina; Rämö, Joel; Kiiskinen, Tuomo; Heyne, Henrike O; Veerapen, Kumar; Rüeger, Sina; Lemmelä, Susanna; Zhou, Wei; Ruotsalainen, Sanni; Pärn, Kalle; Hiekkalinna, Tero; Koskelainen, Sami; Paajanen, Teemu; Llorens, Vincent; Gracia-Tabuenca, Javier; Siirtola, Harri; Reis, Kadri; Elnahas, Abdelrahman G; Sun, Benjamin; Foley, Christopher N; Aalto-Setälä, Katriina; Alasoo, Kaur; Arvas, Mikko; Auro, Kirsi; Biswas, Shameek; Bizaki-Vallaskangas, Argyro; Carpen, Olli; Chen, Chia-Yen; Dada, Oluwaseun A; Ding, Zhihao; Ehm, Margaret G; Eklund, Kari; Färkkilä, Martti; Finucane, Hilary; Ganna, Andrea; Ghazal, Awaisa; Graham, Robert R; Green, Eric M; Hakanen, Antti; Hautalahti, Marco; Hedman, Åsa K; Hiltunen, Mikko; Hinttala, Reetta; Hovatta, Iiris; Hu, Xinli; Huertas-Vazquez, Adriana; Huilaja, Laura; Hunkapiller, Julie; Jacob, Howard; Jensen, Jan-Nygaard; Joensuu, Heikki; John, Sally; Julkunen, Valtteri; Jung, Marc; Junttila, Juhani; Kaarniranta, Kai; Kähönen, Mika; Kajanne, Risto; Kallio, Lila; Kälviäinen, Reetta; Kaprio, Jaakko; Kerimov, Nurlan; Kettunen, Johannes; Kilpeläinen, Elina; Kilpi, Terhi; Klinger, Katherine; Kosma, Veli-Matti; Kuopio, Teijo; Kurra, Venla; Laisk, Triin; Laukkanen, Jari; Lawless, Nathan; Liu, Aoxing; Longerich, Simonne; Mägi, Reedik; Mäkelä, Johanna; Mäkitie, Antti; Malarstig, Anders; Mannermaa, Arto; Maranville, Joseph; Matakidou, Athena; Meretoja, Tuomo; Mozaffari, Sahar V; Niemi, Mari E K; Niemi, Marianna; Niiranen, Teemu; O Donnell, Christopher J; Obeidat, Ma En; Okafo, George; Ollila, Hanna M; Palomäki, Antti; Palotie, Tuula; Partanen, Jukka; Paul, Dirk S; Pelkonen, Margit; Pendergrass, Rion K; Petrovski, Slavé; Pitkäranta, Anne; Platt, Adam; Pulford, David; Punkka, Eero; Pussinen, Pirkko; Raghavan, Neha; Rahimov, Fedik; Rajpal, Deepak; Renaud, Nicole A; Riley-Gillis, Bridget; Rodosthenous, Rodosthenis; Saarentaus, Elmo; Salminen, Aino; Salminen, Eveliina; Salomaa, Veikko; Schleutker, Johanna; Serpi, Raisa; Shen, Huei-Yi; Siegel, Richard; Silander, Kaisa; Siltanen, Sanna; Soini, Sirpa; Soininen, Hilkka; Sul, Jae Hoon; Tachmazidou, Ioanna; Tasanen, Kaisa; Tienari, Pentti; Toppila-Salmi, Sanna; Tukiainen, Taru; Tuomi, Tiinamaija; Turunen, Joni A; Ulirsch, Jacob C; Vaura, Felix; Virolainen, Petri; Waring, Jeffrey; Waterworth, Dawn; Yang, Robert; Nelis, Mari; Reigo, Anu; Metspalu, Andres; Milani, Lili; Esko, Tõnu; Fox, Caroline; Havulinna, Aki S; Perola, Markus; Ripatti, Samuli; Jalanko, Anu; Laitinen, Tarja; Mäkelä, Tomi P; Plenge, Robert; McCarthy, Mark; Runz, Heiko; Daly, Mark J; Palotie, Aarno

Discordant clinical features of identical hypertrophic cardiomyopathy twins

同卵肥厚型心肌病双胞胎临床特征不一致

Repetti, Giuliana G; Kim, Yuri; Pereira, Alexandre C; Ingles, Jodie; Russell, Mark W; Lakdawala, Neal K; Ho, Carolyn Y; Day, Sharlene; Semsarian, Christopher; McDonough, Barbara; DePalma, Steven R; Quiat, Daniel; Green, Eric M; Seidman, Christine E; Seidman, J G

Reply to 'Machine learning detection of obstructive hypertrophic cardiomyopathy using a wearable biosensor'

回复“利用可穿戴生物传感器进行阻塞性肥厚型心肌病的机器学习检测”

van Mourik, Reinier; Dur, Onur; Heitner, Stephen B; Wolfus, Charles; Green, Eric M; Semigran, Marc J

Canine urinary bladder transitional cell carcinoma tumor volume is dependent on imaging modality and measurement technique

犬膀胱移行细胞癌的肿瘤体积取决于影像学检查方式和测量技术。

Leffler, Andrew J; Hostnik, Eric T; Warry, Emma E; Habing, Gregory G; Auld, Danelle M; Green, Eric M; Drost, Wm Tod

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

肌节收缩力的小分子抑制剂可抑制小鼠肥厚型心肌病。

Green, Eric M; Wakimoto, Hiroko; Anderson, Robert L; Evanchik, Marc J; Gorham, Joshua M; Harrison, Brooke C; Henze, Marcus; Kawas, Raja; Oslob, Johan D; Rodriguez, Hector M; Song, Yonghong; Wan, William; Leinwand, Leslie A; Spudich, James A; McDowell, Robert S; Seidman, J G; Seidman, Christine E

Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation

基于群体规模遗传变异的人类β-心肌肌球蛋白多维结构-功能关系

Homburger, Julian R; Green, Eric M; Caleshu, Colleen; Sunitha, Margaret S; Taylor, Rebecca E; Ruppel, Kathleen M; Metpally, Raghu Prasad Rao; Colan, Steven D; Michels, Michelle; Day, Sharlene M; Olivotto, Iacopo; Bustamante, Carlos D; Dewey, Frederick E; Ho, Carolyn Y; Spudich, James A; Ashley, Euan A

A pilot study of toceranib/vinblastine therapy for canine transitional cell carcinoma

托西拉尼/长春碱疗法治疗犬移行细胞癌的初步研究

Rippy, Sarah B; Gardner, Heather L; Nguyen, Sandra M; Warry, Emma E; Portela, Roberta A; Drost, William Tod; Hostnik, Eric T; Green, Eric M; Chew, Dennis J; Peng, Juan; London, Cheryl A