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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Distinct Functional Connectivity Patterns for Intermittent Vs Constant Neuropathic Pain Phenotypes in Persistent Spinal Pain Syndrome Type 2 Patients

持续性脊髓疼痛综合征2型患者间歇性与持续性神经性疼痛表型的功能连接模式存在差异

Pahapill, Peter A; Arocho-Quinones, Elsa V; Chen, Guangyu; Swearingen, Brad; Tomas, Carissa W; Koch, Kevin M; Nencka, Andrew Scott

Magnetic resonance imaging-guided stereotactic laser ablation therapy for the treatment of pediatric epilepsy: a retrospective multiinstitutional study

磁共振成像引导立体定向激光消融术治疗儿童癫痫:一项回顾性多中心研究

Arocho-Quinones, Elsa V; Lew, Sean M; Handler, Michael H; Tovar-Spinoza, Zulma; Smyth, Matthew D; Bollo, Robert J; Donahue, David; Perry, M Scott; Levy, Michael; Gonda, David; Mangano, Francesco T; Kennedy, Benjamin C; Storm, Phillip B; Price, Angela V; Couture, Daniel E; Oluigbo, Chima; Duhaime, Ann-Christine; Barnett, Gene H; Muh, Carrie R; Sather, Michael D; Fallah, Aria; Wang, Anthony C; Bhatia, Sanjiv; Eastwood, Daniel; Tarima, Sergey; Graber, Sarah; Huckins, Sean; Hafez, Daniel; Rumalla, Kavelin; Bailey, Laurie; Shandley, Sabrina; Roach, Ashton; Alexander, Erin; Jenkins, Wendy; Tsering, Deki; Price, George; Meola, Antonio; Evanoff, Wendi; Thompson, Eric M; Brandmeir, Nicholas

Fatal vaccine-induced immune thrombotic thrombocytopenia (VITT) post Ad26.COV2.S: first documented case outside US

接种Ad26.COV2.S疫苗后发生致命性免疫性血栓性血小板减少症(VITT):美国境外首例有记录病例

Rodriguez, Elsa V C; Bouazza, Fatima-Zohra; Dauby, Nicolas; Mullier, François; d'Otreppe, Stéphanie; Jissendi Tchofo, Patrice; Bartiaux, Magali; Sirjacques, Camille; Roman, Alain; Hermans, Cédric; Cliquennois, Manuel

Clinical situation of Venezuelan migrants living with HIV in a hospital in Lima, Peru

秘鲁利马一家医院中感染艾滋病毒的委内瑞拉移民的临床状况

Huerta-Vera, Genesis S; Amarista, Manuel A; Mejía, Fernando A; Graña, Ana B; Gonzalez-Lagos, Elsa V; Gotuzzo, Eduardo

Magnetic resonance-guided stereotactic laser ablation therapy for the treatment of pediatric brain tumors: a multiinstitutional retrospective study

磁共振引导立体定向激光消融治疗儿童脑肿瘤:一项多中心回顾性研究

Arocho-Quinones, Elsa V; Lew, Sean M; Handler, Michael H; Tovar-Spinoza, Zulma; Smyth, Matthew; Bollo, Robert; Donahue, David; Perry, M Scott; Levy, Michael L; Gonda, David; Mangano, Francesco T; Storm, Phillip B; Price, Angela V; Couture, Daniel E; Oluigbo, Chima; Duhaime, Ann-Christine; Barnett, Gene H; Muh, Carrie R; Sather, Michael D; Fallah, Aria; Wang, Anthony C; Bhatia, Sanjiv; Patel, Kadam; Tarima, Sergey; Graber, Sarah; Huckins, Sean; Hafez, Daniel M; Rumalla, Kavelin; Bailey, Laurie; Shandley, Sabrina; Roach, Ashton; Alexander, Erin; Jenkins, Wendy; Tsering, Deki; Price, George; Meola, Antonio; Evanoff, Wendi; Thompson, Eric M; Brandmeir, Nicholas

Care Bundle Approach to Minimizing Infection Rates after Neurosurgical Implants for Neuromodulation: A Single-Surgeon Experience

采用综合护理方案降低神经外科植入神经调控装置术后感染率:一位外科医生的经验

Arocho-Quinones, Elsa V; Huang, Chiang-Ching; Ward, Barney D; Pahapill, Peter A

Hybrid Coatings Enriched with Tetraethoxysilane for Corrosion Mitigation of Hot-Dip Galvanized Steel in Chloride Contaminated Simulated Concrete Pore Solutions

添加四乙氧基硅烷的混合涂层用于缓解氯化物污染模拟混凝土孔隙溶液中热浸镀锌钢的腐蚀

Figueira, Rita B; Callone, Emanuela; Silva, Carlos J R; Pereira, Elsa V; Dirè, Sandra

'Repel all biters': an enhanced collection of endophilic Anopheles gambiae and Anopheles arabiensis in CDC light-traps, from the Kagera Region of Tanzania, in the presence of a combination mosquito net impregnated with piperonyl butoxide and permethrin

“驱赶所有叮咬者”:在坦桑尼亚卡盖拉地区,使用浸有增效醚和氯菊酯的复合蚊帐,通过美国疾病控制与预防中心(CDC)诱蚊灯收集到更多嗜内性冈比亚按蚊和阿拉伯按蚊。

LeClair, Corey; Cronery, Judith; Kessy, Enock; Tomás, Elsa V E; Kulwa, Yohannes; Mosha, Franklin W; Rowland, Mark; Protopopoff, Natacha; Derek Charlwood, J