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

Immunopathological and microbial signatures of inflammatory bowel disease in partial RAG deficiency.

部分 RAG 缺乏症炎症性肠病的免疫病理学和微生物学特征

Castagnoli Riccardo, Pala Francesca, Subramanian Poorani, Oguz Cihan, Schwarz Benjamin, Lim Ai Ing, Burns Andrew S, Fontana Elena, Bosticardo Marita, Corsino Cristina, Angelova Angelina, Delmonte Ottavia M, Kenney Heather, Riley Deanna, Smith Grace, Ott de Bruin Lisa, Oikonomou Vasileios, Dos Santos Dias Lucas, Fink Danielle, Bohrnsen Eric, Kimzey Cole D, Marseglia Gian Luigi, Alva-Lozada Guisela, Bergerson Jenna R E, Brett Ana, Brigatti Karlla W, Dimitrova Dimana, Dutmer Cullen M, Freeman Alexandra F, Ale Hanadys, Holland Steven M, Licciardi Francesco, Pasic Srdjan, Poskitt Laura E, Potts David E, Dasso Joseph F, Sharapova Svetlana O, Strauss Kevin A, Ward Brant R, Yilmaz Melis, Kuhns Douglas B, Lionakis Michail S, Daley Stephen R, Kong Heidi H, Segre Julia A, Villa Anna, Pittaluga Stefania, Walter Jolan E, Vujkovic-Cvijin Ivan, Belkaid Yasmine, Notarangelo Luigi D

A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice

在门诺派家族中发现的一种与抑郁症相关的GPR156罕见变异会导致小鼠缰核过度活跃和应激敏感性。

Miller, Bradley R; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W; de Jong, Job; Breese, Robert S; Ko, Seung Yeon; Puffenberger, Erik G; Van Hout, Cristopher; Young, Millie; Luna, Victor M; Staples, Jeffrey; First, Michael B; Gregoire, Hilledna J; Dwork, Andrew J; Pefanis, Evangelos; McCarthy, Shane; Brydges, Susannah; Rojas, Jose; Ye, Bin; Stahl, Eli; Di Gioia, Silvio Alessandro; Hen, René; Elwood, Kevin; Rosoklija, Gorazd; Li, Dadong; Mellis, Scott; Carey, David; Croll, Susan D; Overton, John D; Macdonald, Lynn E; Economides, Aris N; Shuldiner, Alan R; Chuhma, Nao; Rayport, Stephen; Amin, Najaf; Kushner, Steven A; Alessandri-Haber, Nicole; Markx, Sander; Strauss, Kevin A

Potential cytotoxicity of truncated slow skeletal muscle troponin T (ssTnT) in a loss of function TNNT1 myopathy mouse model

截短型慢肌肌钙蛋白T (ssTnT) 在功能丧失型TNNT1肌病小鼠模型中的潜在细胞毒性

Feng, Han-Zhong; Strauss, Kevin A; Jin, Jian-Ping

Factors associated with and kinetics of anti-IFN-α autoantibodies in RAG1/2 deficiency

RAG1/2缺陷中抗IFN-α自身抗体的相关因素及动力学

Wang, Chen; Potts, David Evan; Sun, Bijun; Toth, Marta; Ujhazi, Boglarka; Sharapova, Svetlana; Miller, Rahim; Rosen, Lindsey; Yilmaz, Melis; Larsen, Kellie; Delmonte, Ottavia M; Poskitt, Laura E; Allenspach, Eric J; de la Morena, Maria Teresa; Ward, Brant R; Hernandez, Joseph D; Geier, Christoph B; Bolanos, Hannie Zomer; Al-Herz, Waleed; Kuijpers, Taco W; Petrov, Andrej A; Savic, Sinisa; Chen, Karin; Westermann-Clark, Emma; Dutmer, Cullen M; Kanariou, Maria G; Adeli, Mehdi; Palma, Paolo; Bonfim, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; de Barros Dorna, Mayra; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Licciardi, Francesco; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S; Miano, Maurizio; Goldman, Stanton C; Raasch, Jason; Gonzalez-Granado, Luis Ignacio; Celmeli, Fatih; Baris, Safa; Abraham, Roshini S; Buchbinder, David K; Butte, Manish J; Wang, Ji-Yang; Wang, Xiaochuan; Strauss, Kevin A; Holland, Steven M; Notarangelo, Luigi D; Walter, Jolan E

Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy

对有婴儿期发病脊髓性肌萎缩症风险的儿童进行预防性双重治疗

Matesanz, Susan E; Brigatti, Karlla W; Young, Millie; Yum, Sabrina W; Strauss, Kevin A

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy

WiTNNess:一项关于婴儿期发病的TNNT1肌病的国际自然史研究

Strauss, Kevin A; Carson, Vincent J; Bolettieri, Emilienne; Everett, Mariah; Bollinger, Ashton; Bowser, Lauren E; Beiler, Keturah; Young, Millie; Edvardson, Simon; Fraenkel, Nitay; D'Amico, Adele; Bertini, Enrico; Lingappa, Lokesh; Chowdhury, Devyani; Lowes, Linda P; Iammarino, Megan; Alfano, Lindsay N; Brigatti, Karlla W

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Onasemnogene abeparvovec 用于携带两个 SMN2 基因拷贝且有患 1 型脊髓性肌萎缩症风险的无症状婴儿:III 期 SPR1NT 试验

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Onasemnogene abeparvovec 用于携带三个 SMN2 基因拷贝且有脊髓性肌萎缩症风险的无症状婴儿:III 期 SPR1NT 试验

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; Finkel, Richard S; Swoboda, Kathryn J; Kwon, Jennifer M; Zaidman, Craig M; Chiriboga, Claudia A; Iannaccone, Susan T; Krueger, Jena M; Parsons, Julie A; Shieh, Perry B; Kavanagh, Sarah; Wigderson, Melissa; Tauscher-Wisniewski, Sitra; McGill, Bryan E; Macek, Thomas A

Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

更正:Onasemnogene Abeparvovec疗法的临床试验和上市后安全性

Day, John W; Mendell, Jerry R; Mercuri, Eugenio; Finkel, Richard S; Strauss, Kevin A; Kleyn, Aaron; Tauscher-Wisniewski, Sitra; Tukov, Francis Fonyuy; Reyna, Sandra P; Chand, Deepa H

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

由载脂蛋白B基因阿米什族创始人突变引起的家族性高胆固醇血症的临床特征

Williams, Katie B; Horst, Michael; Young, Millie; Pascua, Christine; Puffenberger, Erik G; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Shuldiner, Alan R; Gidding, Samuel; Strauss, Kevin A; Chowdhury, Devyani