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

Olfactory deficit and gastrointestinal dysfunction precede motor abnormalities in alpha-Synuclein G51D knock-in mice

α-突触核蛋白 G51D 基因敲入小鼠在出现运动异常之前,先出现嗅觉障碍和胃肠功能障碍

YoungDoo Kim, Joseph McInnes, Jiyoen Kim, Yan Hong Wei Liang, Surabi Veeraragavan, Alexandra Rae Garza, Benjamin David Webst Belfort, Benjamin Arenkiel, Rodney Samaco, Huda Yahya Zoghbi

Co-expression of prepulse inhibition and Schizophrenia genes in the mouse and human brain

小鼠和人脑中前脉冲抑制基因与精神分裂症基因的共表达

Garrett, Lillian; Trümbach, Dietrich; Lee, Donghyung; Mandillo, Silvia; Samaco, Rodney; Flenniken, Ann M; Stewart, Michelle; White, Jacqueline K; McKerlie, Colin; Nutter, Lauryl M J; Vukobradovic, Igor; Veeraragavan, Surabi; Yuva, Lisa; Heaney, Jason D; Dickinson, Mary E; Meziane, Hamid; Hérault, Yann; Wells, Sara; Lloyd, K C Kent; Bower, Lynette; Lanoue, Louise; Clary, Dave; Zimprich, Annemarie; Gailus-Durner, Valerie; Fuchs, Helmut; Brown, Steve D M; Chesler, Elissa J; Wurst, Wolfgang; Hrabě de Angelis, Martin; Hölter, Sabine M

Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome

Magel2 截断改变了 Schaaf-Yang 综合征大鼠模型中的某些行为和生理结果

Derek L Reznik, Mingxiao V Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P Schaaf, Anna Malovannaya, Theresa V Strong, Surabi Veeraragavan, Rodney C Samaco

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

提高临床试验准备度,加速雷特综合征新疗法的研发

Leonard, Helen; Gold, Wendy; Samaco, Rodney; Sahin, Mustafa; Benke, Timothy; Downs, Jenny

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

大脑中主要 CDKL5 转录本特有的晚期截断突变个体表现出广泛的表型严重程度。

Keehan, Laura; Haviland, Isabel; Gofin, Yoel; Swanson, Lindsay C; El Achkar, Christelle Moufawad; Schreiber, John; VanNoy, Grace E; O'Heir, Emily; O'Donnell-Luria, Anne; Lewis, Richard Alan; Magoulas, Pilar; Tran, Alyssa; Azamian, Mahshid S; Chao, Hsiao-Tuan; Pham, Lisa; Samaco, Rodney C; Elsea, Sarah; Thorpe, Erin; Kesari, Akanchha; Perry, Denise; Lee, Brendan; Lalani, Seema R; Rosenfeld, Jill A; Olson, Heather E; Burrage, Lindsay C

Evaluating Two Common Strategies for Research Participant Recruitment Into Autism Studies: Observational Study

评估两种常见的自闭症研究参与者招募策略:观察性研究

Ahmed, Kelli L; Simon, Andrea R; Dempsey, Jack R; Samaco, Rodney C; Goin-Kochel, Robin P

Validation of Persian Individualized Neuromuscular Quality of Life in patients with muscular dystrophies

波斯语个体化神经肌肉生活质量量表在肌营养不良症患者中的验证

Ward, Christopher S; Huang, Teng-Wei; Herrera, Jose A; Samaco, Rodney C; McGraw, Christopher M; Parra, Diana E; Arvide, E Melissa; Ito-Ishida, Aya; Meng, Xiangling; Ure, Kerstin; Zoghbi, Huda Y; Neul, Jeffrey L; Moradi, Kamyar; Jamal-Omidi, Shirin; Masoudi, Maryam; Bagheri, Sayna; Nafissi, Shahriar; Fatehi, Farzad

Soft windowing application to improve analysis of high-throughput phenotyping data

软窗口应用可改进高通量表型数据的分析

Haselimashhadi, Hamed; Mason, Jeremy C; Munoz-Fuentes, Violeta; López-Gómez, Federico; Babalola, Kolawole; Acar, Elif F; Kumar, Vivek; White, Jacqui; Flenniken, Ann M; King, Ruairidh; Straiton, Ewan; Seavitt, John Richard; Gaspero, Angelina; Garza, Arturo; Christianson, Audrey E; Hsu, Chih-Wei; Reynolds, Corey L; Lanza, Denise G; Lorenzo, Isabel; Green, Jennie R; Gallegos, Juan J; Bohat, Ritu; Samaco, Rodney C; Veeraragavan, Surabi; Kim, Jong Kyoung; Miller, Gregor; Fuchs, Helmult; Garrett, Lillian; Becker, Lore; Kang, Yeon Kyung; Clary, David; Cho, Soo Young; Tamura, Masaru; Tanaka, Nobuhiko; Soo, Kyung Dong; Bezginov, Alexandr; About, Ghina Bou; Champy, Marie-France; Vasseur, Laurent; Leblanc, Sophie; Meziane, Hamid; Selloum, Mohammed; Reilly, Patrick T; Spielmann, Nadine; Maier, Holger; Gailus-Durner, Valerie; Sorg, Tania; Hiroshi, Masuya; Yuichi, Obata; Heaney, Jason D; Dickinson, Mary E; Wolfgang, Wurst; Tocchini-Valentini, Glauco P; Lloyd, Kevin C Kent; McKerlie, Colin; Seong, Je Kyung; Yann, Herault; de Angelis, Martin Hrabé; Brown, Steve D M; Smedley, Damian; Flicek, Paul; Mallon, Ann-Marie; Parkinson, Helen; Meehan, Terrence F

A framework for the investigation of rare genetic disorders in neuropsychiatry

神经精神病学中罕见遗传疾病的研究框架

Sanders, Stephan J; Sahin, Mustafa; Hostyk, Joseph; Thurm, Audrey; Jacquemont, Sebastien; Avillach, Paul; Douard, Elise; Martin, Christa L; Modi, Meera E; Moreno-De-Luca, Andres; Raznahan, Armin; Anticevic, Alan; Dolmetsch, Ricardo; Feng, Guoping; Geschwind, Daniel H; Glahn, David C; Goldstein, David B; Ledbetter, David H; Mulle, Jennifer G; Pasca, Sergiu P; Samaco, Rodney; Sebat, Jonathan; Pariser, Anne; Lehner, Thomas; Gur, Raquel E; Bearden, Carrie E

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments

智力和发育障碍研究中心:五十年的科学成就

Walkley, Steven U; Abbeduto, Leonard; Batshaw, Mark L; Bhattacharyya, Anita; Bookheimer, Susan Y; Christian, Bradley T; Constantino, John N; de Vellis, Jean; Doherty, Daniel A; Nelson, David L; Piven, Joseph; Poduri, Annapurna; Pomeroy, Scott L; Samaco, Rodney C; Zoghbi, Huda Y; Guralnick, Michael J