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

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial

双载体rAAVrh8基因疗法治疗GM2神经节苷脂沉积症:一项1/2期试验

Eichler, Florian; Cataltepe, Oguz I; Daci, Rrita; Puri, Ajit S; Taghian, Toloo; Jiang, Xuntian; Shazeeb, Mohammed Salman; Kuhn, Anna; Hader, Asma; Celik, Hakki; Vardar, Zeynep; Lewis, Connor J; Artinian, Rebecca; Nagy, Amanda; Vachha, Behroze; Thompson, Robert; Gallagher, Thomas; Bateman, Scot; Parzych, Julia; Spanakis, Spiro G; Vaughn, Toby A; Pier, Kirsten; De Boever, Erika; Abbott, Mary-Alice; D Ambrosio, Eleonora; Kokoski, Danielle; Blackwood, Meghan; Drummond, Elise; Ratai, Eva-Maria; Townsend, Elise L; McLaughlin, Haley; Tifft, Cynthia J; Keeler, Allison M; Sena-Esteves, Miguel; Gray-Edwards, Heather L; Flotte, Terence R

Genome-wide analyses identify 30 loci associated with obsessive-compulsive disorder

全基因组分析确定了30个与强迫症相关的基因位点

Strom, Nora I; Gerring, Zachary F; Galimberti, Marco; Yu, Dongmei; Halvorsen, Matthew W; Abdellaoui, Abdel; Rodriguez-Fontenla, Cristina; Sealock, Julia M; Bigdeli, Tim; Coleman, Jonathan R; Mahjani, Behrang; Thorp, Jackson G; Bey, Katharina; Burton, Christie L; Luykx, Jurjen J; Zai, Gwyneth; Alemany, Silvia; Andre, Christine; Askland, Kathleen D; Bäckman, Julia; Banaj, Nerisa; Barlassina, Cristina; Nissen, Judith Becker; Bienvenu, O Joseph; Black, Donald; Bloch, Michael H; Børte, Sigrid; Bosch, Rosa; Breen, Michael; Brennan, Brian P; Brentani, Helena; Buxbaum, Joseph D; Bybjerg-Grauholm, Jonas; Byrne, Enda M; Cabana-Dominguez, Judit; Camarena, Beatriz; Camarena, Adrian; Cappi, Carolina; Carracedo, Angel; Casas, Miguel; Cavallini, Maria Cristina; Ciullo, Valentina; Cook, Edwin H; Crosby, Jesse; Cullen, Bernadette A; De Schipper, Elles J; Delorme, Richard; Djurovic, Srdjan; Elias, Jason A; Estivill, Xavier; Falkenstein, Martha J; Fundin, Bengt T; Garner, Lauryn; Gironda, Christina; Goes, Fernando S; Grados, Marco A; Grove, Jakob; Guo, Wei; Haavik, Jan; Hagen, Kristen; Harrington, Kelly; Havdahl, Alexandra; Höffler, Kira D; Hounie, Ana G; Hucks, Donald; Hultman, Christina; Janecka, Magdalena; Jenike, Eric; Karlsson, Elinor K; Kelley, Kara; Klawohn, Julia; Krasnow, Janice E; Krebs, Kristi; Lange, Christoph; Lanzagorta, Nuria; Levey, Daniel; Lindblad-Toh, Kerstin; Macciardi, Fabio; Maher, Brion; Mathes, Brittany; McArthur, Evonne; McGregor, Nathaniel; McLaughlin, Nicole C; Meier, Sandra; Miguel, Euripedes C; Mulhern, Maureen; Nestadt, Paul S; Nurmi, Erika L; O'Connell, Kevin S; Osiecki, Lisa; Ousdal, Olga Therese; Palviainen, Teemu; Pedersen, Nancy L; Piras, Fabrizio; Piras, Federica; Potluri, Sriramya; Rabionet, Raquel; Ramirez, Alfredo; Rauch, Scott; Reichenberg, Abraham; Riddle, Mark A; Ripke, Stephan; Rosário, Maria C; Sampaio, Aline S; Schiele, Miriam A; Skogholt, Anne Heidi; Sloofman, Laura G; Smit, Jan; Artigas, María Soler; Thomas, Laurent F; Tifft, Eric; Vallada, Homero; van Kirk, Nathanial; Veenstra-VanderWeele, Jeremy; Vulink, Nienke N; Walker, Christopher P; Wang, Ying; Wendland, Jens R; Winsvold, Bendik S; Yao, Yin; Zhou, Hang; Agrawal, Arpana; Alonso, Pino; Berberich, Götz; Bucholz, Kathleen K; Bulik, Cynthia M; Cath, Danielle; Denys, Damiaan; Eapen, Valsamma; Edenberg, Howard; Falkai, Peter; Fernandez, Thomas V; Fyer, Abby J; Gaziano, J M; Geller, Dan A; Grabe, Hans J; Greenberg, Benjamin D; Hanna, Gregory L; Hickie, Ian B; Hougaard, David M; Kathmann, Norbert; Kennedy, James; Lai, Dongbing; Landén, Mikael; Hellard, Stéphanie Le; Leboyer, Marion; Lochner, Christine; McCracken, James T; Medland, Sarah E; Mortensen, Preben B; Neale, Benjamin M; Nicolini, Humberto; Nordentoft, Merete; Pato, Michele; Pato, Carlos; Pauls, David L; Piacentini, John; Pittenger, Christopher; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Rasmussen, Steven A; Richter, Margaret A; Rosenberg, David R; Ruhrmann, Stephan; Samuels, Jack F; Sandin, Sven; Sandor, Paul; Spalletta, Gianfranco; Stein, Dan J; Stewart, S Evelyn; Storch, Eric A; Stranger, Barbara E; Turiel, Maurizio; Werge, Thomas; Andreassen, Ole A; Børglum, Anders D; Walitza, Susanne; Hveem, Kristian; Hansen, Bjarne K; Rück, Christian; Martin, Nicholas G; Milani, Lili; Mors, Ole; Reichborn-Kjennerud, Ted; Ribasés, Marta; Kvale, Gerd; Mataix-Cols, David; Domschke, Katharina; Grünblatt, Edna; Wagner, Michael; Zwart, John-Anker; Breen, Gerome; Nestadt, Gerald; Kaprio, Jaakko; Arnold, Paul D; Grice, Dorothy E; Knowles, James A; Ask, Helga; Verweij, Karin J; Davis, Lea K; Smit, Dirk J; Crowley, James J; Scharf, Jeremiah M; Stein, Murray B; Gelernter, Joel; Mathews, Carol A; Derks, Eske M; Mattheisen, Manuel

CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.

针对中枢神经系统的主要迟发性泰-萨克斯病突变进行碱基编辑可缓解小鼠的疾病

Allende Maria L, Kono Mari, Lee Y Terry, Olmsted Samantha M, Huso Vienna, Bakir Jenna Y, Pratto Florencia, Li Cuiling, Byrnes Colleen, Tuymetova Galina, Zhu Hongling, Tifft Cynthia J, Proia Richard L

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases

晚发型GM2神经节苷脂沉积症:磁共振成像、弥散张量成像和相关纤维束成像可鉴别泰-萨克斯病和桑德霍夫病

Lewis, Connor J; Chipman, Selby I; Johnston, Jean M; Acosta, Maria T; Toro, Camilo; Tifft, Cynthia J

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

差异性纤维束成像:神经退行性疾病中组织退化的影像学标志物

Lewis, Connor J; Vardar, Zeynep; Kühn, Anna Luisa; Johnston, Jean M; D'Souza, Precilla; Yousef, Muhammad H; Gahl, William A; Shazeeb, Mohammed Salman; Tifft, Cynthia J; Acosta, Maria T

Corrigendum to "Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients" [Molecular Genetics and Metabolism 2025 Mar;144(3):109025]

对“II 型晚期婴儿和青少年 GM1 神经节苷脂病患者的 MRI 脑体积自然史进展”的更正 [分子遗传学和代谢 2025 年 3 月;144(3):109025]

Kolstad, Josephine; Zoppo, Christopher; Johnston, Jean M; D'Souza, Precilla; Kühn, Anna Luisa; Vardar, Zeynep; Peker, Ahmet; Hader, Asma; Celik, Hakki; Lewis, Connor J; Lindsay, Clifford; Rentiya, Zubir S; Lebel, Catherine; Vedantham, Srinivasan; Vachha, Behroze; Gray-Edwards, Heather L; Acosta, Maria T; Tifft, Cynthia J; Shazeeb, Mohammed Salman

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients

II型晚期婴儿期和青少年期GM1神经节苷脂沉积症患者的MRI脑容量自然史进展

Kolstad, Josephine; Zoppo, Christopher; Johnston, Jean M; D'Souza, Precilla; Kühn, Anna Luisa; Vardar, Zeynep; Peker, Ahmet; Hader, Asma; Celik, Hakki; Lewis, Connor J; Lindsay, Clifford; Rentiya, Zubir S; Lebel, Catherine; Vedantham, Srinivasan; Vachha, Behroze; Gray-Edwards, Heather L; Acosta, Maria T; Tifft, Cynthia J; Shazeeb, Mohammed Salman

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts

回顾性评估GM1神经节苷脂沉积症的临床总体印象严重程度和变化:一种用于对罕见病队列的自然史数据进行评分的工具

Lewis, Connor J; Johnston, Jean M; Zaragoza Domingo, Silvia; Vezina, Gilbert; D'Souza, Precilla; Gahl, William A; Adams, David A; Tifft, Cynthia J; Acosta, Maria T

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

RNA测序驱动的诊断扩大了NBAS缺乏症的表型谱

Silverstein Sarah, Cassini Thomas, Fu Jiayu, Pusey Barbara, Macnamara Ellen, Frost F Graeme, Williams Charlotte, Huang Yan, Tifft Cynthia J, Gahl William, Malicdan May-Christine, Adams David R

Assessing Supraspinatus Tendon Elasticity at Different Locations and Loading Conditions Using Ultrasound Shear-Wave Elastography in Young Healthy Population

利用超声剪切波弹性成像技术评估年轻健康人群在不同位置和负荷条件下的冈上肌腱弹性

Azhideh, Arash; Mirghaderi, Peyman; Haseli, Sara; Lack, William D; Takatani, Karen C; Hammer, Liisa C; Malik, Kevin F; Tifft, Hannah; Griffith, Kyle; Chalian, Majid