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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

OMG! A proteomic determinant of neurodegenerative resiliency

我的天!神经退行性疾病恢复力的蛋白质组学决定因素

Duggan, Michael R; Oh, Hamilton Se-Hwee; Frank, Philipp; Gomez, Gabriela T; Zweibaum, David; Cui, Yuhan; Chen, Jingsha; Surapaneni, Aditya; Blew, Cassandra O; Dark, Heather E; Joynes, Cassandra M; Kandala, Sridhar; Bilgel, Murat; Farinas, Amelia; Erus, Guray; Tian, Qu; Candia, Julián; Pucha, Krishna A; Landman, Bennett A; Dumitrescu, Logan; Hohman, Timothy J; Lewis, Alexandria; Moghekar, Abhay; Siavoshi, Fatemeh; Ali, Muhammad; Liu, Menghan; Xu, Ying; Western, Daniel; Kaneko, Naoto; Kato, Shintaro; Furuichi, Makio; Shibayama, Masaki; Katsuno, Masahisa; Nishita, Yukiko; Otsuka, Rei; Gottesman, Rebecca F; Dammer, Eric B; Seyfried, Nicholas T; Levey, Allan I; B Johnson, Erik C; Mormino, Elizabeth; Wagner, Anthony D; Poston, Kathleen L; Kapogiannis, Dimitrios; Grams, Morgan E; Bhargava, Pavan; Waga, Iwao; Davatzikos, Christos; Resnick, Susan M; Ferrucci, Luigi; Bennett, David A; Cruchaga, Carlos; Wyss-Coray, Tony; Kivimäki, Mika; Coresh, Josef; Walker, Keenan A

Cross-species evidence for a developmental origin of adult hypersomnia with loss of synaptic adhesion molecules beat-Ia/CADM2

跨物种证据表明,成年嗜睡症的发育起源与突触粘附分子beat-Ia/CADM2的缺失有关

Mace, Kyla; Zimmerman, Amber; Chesi, Alessandra; Doldur-Balli, Fusun; Kim, Hayle; Almeraya Del Valle, Erika; Rosa, Jeffrey B; Pack, Allan I; Grant, Struan F A; Kayser, Matthew S

Effect of Cognitive Reserve on Age at Symptom Onset and Cognitive Decline in Individuals With Dominantly Inherited Alzheimer Disease

认知储备对显性遗传阿尔茨海默病患者症状出现年龄和认知衰退的影响

Llibre-Guerra, Jorge J; Lu, Ruijin; Clarens, Ma Florencia; Liu, Ian; Renton, Alan; Ryan, Natalie S; Goate, Alison M; Aguillón, David; Allegri, Ricardo Francisco; Benzinger, Tammie L S; Berman, Sarah; Chhatwal, Jasmeer P; Chrem Mendez, Patricio; Vigo, Gabriela; Cruchaga, Carlos; Day, Gregory S; Farlow, Martin R; Fox, Nick C; Gordon, Brian Andrew; Hassenstab, Jason; Huey, Edward D; Ibanez, Laura; Ikeuchi, Takeshi; Jucker, Mathias; Lee, Jae-Hong; Levey, Allan I; Levin, Johannes; Niimi, Yoshiki; Perrin, Richard J; Rosa-Neto, Pedro; Sánchez-Valle, Raquel; Schofield, Peter R; Wang, Guoqiao; Li, Yan; Xiong, Chengjie; Morris, John C; Karch, Celeste; Daniels, Alisha J; McDade, Eric; Bateman, Randall J

Blood Flow Restriction Therapy Stimulates Intercellular Mitochondria Transfer and Improves Muscle Regeneration and Shoulder Function in a Murine Rotator Cuff Injury Model.

血流限制疗法可刺激细胞间线粒体转移,改善小鼠肩袖损伤模型中的肌肉再生和肩关节功能。

Milan Nesa, Wague Aboubacar, Sang Luke, Youn Alex, Sadjadi Ryan, Samimi Yusef, Montenegro Cristhian, Lizarraga Miguel, Lau Justin, Basbaum Allan I, Davies Michael R, Kim Hubert T, Feeley Brian T, Weinrich Jarret A P, Liu Xuhui

Peripheral biomarkers associated with apathy and predicting response to methylphenidate: Secondary analysis of the Apathy in Dementia Methylphenidate Trial 2 (ADMET2) study

与冷漠相关的外周生物标志物及对哌甲酯疗效的预测:痴呆症冷漠哌甲酯试验2 (ADMET2) 研究的二次分析

Sankhe, Krushnaa; Ruthirakuhan, Myuri; Andreazza, Ana C; Brawman-Mintzer, Olga; Craft, Suzanne; Herrmann, Nathan; Ismail, Zahinoor; Lerner, Alan J; Levey, Allan I; Mintzer, Jacobo; Padala, Prasad R; Perin, Jamie; Porsteinsson, Anton P; Rosenberg, Paul B; Shade, David; Tumati, Shankar; van Dyck, Christopher H; Lanctôt, Krista L

Abnormalities in core AD biomarkers precede inflammatory and glial markers in CSF in Autosomal Dominant Alzheimer's Disease

在常染色体显性遗传阿尔茨海默病中,脑脊液中核心阿尔茨海默病生物标志物的异常先于炎症和胶质细胞标志物的异常出现。

Lin, Wenjing; Beric, Aleksandra; Wisch, Julie K; Baker, Bryce; Jerome, Gina; Minton, Matthew; Preminger, Sam; Stauber, Jennifer; Schindler, Suzanne E; Dage, Jeffrey L; Allegri, Ricardo; Aguillon, David; Benzinger, Tammie; Chhatwal, Jasmeer; Daniels, Alisha; Day, Gregory S; Devenney, Emma; Fox, Nick C; Goate, Alison; Gordon, Brian A; Barthélemy, Nicolas R; Hassenstab, Jason; Huey, Edward; Ikeuchi, Takeshi; Jayadev, Suman; Jucker, Mathias; Ishiguro, Takanobu; Lee, Jae-Hong; Levey, Allan I; Levin, Johannes; Morris, John C; Perrin, Richard J; Renton, Alan; Roh, Jee Hoon; Xiong, Chengjie; Bateman, Randall J; Ances, Beau M; Cruchaga, Carlos; Karch, Celeste M; Supnet-Bell, Charlene; Llibre-Guerra, Jorge; McDade, Eric; Ibanez, Laura

Detecting cognitive impairment and psychological well-being among older adults

检测老年人的认知障碍和心理健康状况

Mu, Xiaofan; Bibars, Merna; Seyedi, Salman; Zheng, Iris; Jiang, Zifan; Chen, Liu; Omofojoye, Bolaji; Hershenberg, Rachel; Levey, Allan I; Clifford, Gari D; Dodge, Hiroko H; Kwon, Hyeokhyen

Plasma levels of an N-terminal tau fragment predict Alzheimer's and neurodegenerative disease biomarkers in autosomal dominant Alzheimer's disease

血浆中N端tau蛋白片段的水平可预测常染色体显性遗传阿尔茨海默病中的阿尔茨海默病和神经退行性疾病生物标志物

Schultz, Stephanie A; Rao, Yiwen; Liu, Lei; Ostaszewski, Beth; Anderson, Amirah K; Yau, Wai-Ying Wendy; Shirzadi, Zahra; Gordon, Brian A; Hassenstab, Jason; Morris, John C; Perrin, Richard J; Allegri, Ricardo F; Barthélemy, Nicolas R; Fox, Nick; Day, Gregory S; Jucker, Mathias; Levey, Allan I; Levin, Johannes; Mori, Hiroshi; Salloway, Stephen; Schofield, Peter; McDade, Eric; Sperling, Reisa A; Bateman, Randall J; Selkoe, Dennis J; Chhatwal, Jasmeer P

Non-linear associations of amyloid-β with resting-state functional networks and their cognitive relevance in a large community-based cohort of cognitively normal older adults

在一项基于社区的大型认知正常老年人群队列研究中,淀粉样蛋白β与静息态功能网络的非线性关联及其认知相关性

Wu, Junjie; Risk, Benjamin B; James, Taylor A; Seyfried, Nicholas T; Loring, David W; Goldstein, Felicia C; Levey, Allan I; Lah, James J; Qiu, Deqiang