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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

AI-powered segmentation and prognosis with missing MRI in pediatric brain tumors

利用人工智能技术对缺失MRI图像的儿童脑肿瘤进行分割和预后分析

Chrysochoou, Dimosthenis; Gandhi, Deep B; Adib, Sahand; Familiar, Ariana M; Vunnava, Bhavyasri; Varshochi, Sanaz; Khalili, Neda; Khalili, Nastaran; Ware, Jeffrey B; Tu, Wenxin; Jain, Paarth; Anderson, Hannah; Haldar, Shuvanjan; Storm, Phillip B; Franson, Andrea; Prados, Michael; Kline, Cassie; Mueller, Sabine; Resnick, Adam; Vossough, Arastoo; Davatzikos, Christos; Nabavizadeh, Ali; Kazerooni, Anahita Fathi

Clinical, imaging and blood biomarker outcomes in a Phase 3 clinical trial of tau aggregation inhibitor hydromethylthionine mesylate in mild cognitive impairment and mild to moderate dementia due to Alzheimer's disease

一项针对轻度认知障碍和阿尔茨海默病引起的轻度至中度痴呆的tau蛋白聚集抑制剂甲磺酸氢甲基硫氨酸的3期临床试验的临床、影像学和血液生物标志物结果

Wischik, Claude M; Stefanacci, Richard; Bentham, Peter; Gauthier, Serge; Zetterberg, Henrik; Wilcock, Gordon K; Froelich, Lutz; Burns, Alistair; MacSweeney, Emer; Ballard, Clive; Yu, Jin-Tai; Choon, Tay Siew; Asvatourian, Vahe; Muehlemann, Natalia; Priel, Jan; Kook, Karin; Sullivan, Tenecia; Downie, Diane; Miller, Sonya; Pringle, Carol; Storey, John M D; Baddeley, Tom; Harrington, Charles R; Penny, Lewis K; Arastoo, Mohammad; Staff, Roger; Sandu, Anca-Larisa; Shiells, Helen; Lo, Serena; Nazlee, Nafeesa; Evans, Emily; Hull, Claire; Schelter, Bjoern O

Timing matters: early administration of a high-affinity antibody targeting the tau repeat domain prevents aggregation in a mouse tauopathy model

时机至关重要:在小鼠tau蛋白病模型中,早期注射靶向tau重复结构域的高亲和力抗体可预防聚集。

Penny, Lewis K; Arastoo, Mohammad; Lofthouse, Richard; Abdallah, Aya; Imoesi, Peter I; Schwab, Karima; Shiells, Helen; Melis, Valeria; Riedel, Gernot; Harrington, Charles R; Wischik, Claude M; Porter, Andrew; Palliyil, Soumya

Imaging Differentiation of Supratentorial Ependymoma and High-Grade Glioma in Children Using VASARI Features

利用VASARI特征对儿童幕上室管膜瘤和高级别胶质瘤进行影像学鉴别诊断

Cerron-Vela, Carmen R; Gonçalves, Fabrício Guimarães; Tierradentro-García, Luis Octavio; Viaene, Angela N; Bhatia, Aashim; Vossough, Arastoo

Trends in HU utilization and cerebrovascular outcomes before and after publication of the 2014 National Heart, Lung, and Blood Institute sickle cell disease guidelines

2014年美国国家心肺血液研究所镰状细胞病指南发布前后,羟基脲(HU)使用情况和脑血管结局的变化趋势

Dain, Aleksandra S; Li, Yimei; Master, Sahal; Bailey, Charles L; Vossough, Arastoo; Ichord, Rebecca N; Raffini, Leslie; Getz, Kelly; Kwiatkowski, Janet L

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Pediatric Intracerebral Hemorrhage Management-Consensus Statement of the International Pediatric Stroke Organization-Part 1: Acute Phase and Workup

儿童脑出血管理——国际儿童卒中组织共识声明——第一部分:急性期和诊断评估

Boulouis, Grégoire; Fox, Christine K; Waak, Michaela; Sporns, Peter B; Mailo, Janette A; Beslow, Lauren A; Wintermark, Max; Chung, Melissa G; Harrar, Dana B; Vossough, Arastoo; Hausman-Kedem, Moran; Naggara, Olivier; Jiang, Bin; Requejo, Flavio; Chaudhary, Neeraj; Benichi, Sandro; Radvany, Martin G; Martinez, Mesha; Vadivelu, Sudhakar; Kansagra, Akash P; Aagaard-Kienitz, Beverly; Martí-Fàbregas, Joan; Chikkannaiah, Mahesh; Pasi, Marco; Grossberg, Jonathan A; Chevignard, Mathilde; Mrakotsky, Christine; Fullerton, Heather J; Dlamini, Nomazulu; Lehman, Laura L

Multiparametric MRI along with machine learning predicts prognosis and treatment response in pediatric low-grade glioma

多参数磁共振成像结合机器学习预测儿童低级别胶质瘤的预后和治疗反应

Fathi Kazerooni, Anahita; Kraya, Adam; Rathi, Komal S; Kim, Meen Chul; Vossough, Arastoo; Khalili, Nastaran; Familiar, Ariana M; Gandhi, Deep; Khalili, Neda; Kesherwani, Varun; Haldar, Debanjan; Anderson, Hannah; Jin, Run; Mahtabfar, Aria; Bagheri, Sina; Guo, Yiran; Li, Qi; Huang, Xiaoyan; Zhu, Yuankun; Sickler, Alex; Lueder, Matthew R; Phul, Saksham; Koptyra, Mateusz; Storm, Phillip B; Ware, Jeffrey B; Song, Yuanquan; Davatzikos, Christos; Foster, Jessica B; Mueller, Sabine; Fisher, Michael J; Resnick, Adam C; Nabavizadeh, Ali