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

Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder

阐明GNAO1 E246K变异在神经发育障碍中致病作用的机制基础

Sadiya, Isra; Nekrasova, Irina; Avital-Shacham, Meirav; van Wijk, Naomi; Zohar, Keren; Kalisman, Nir; Shneidman-Duhovny, Dina; Banne, Ehud; Nissenkorn, Andreea; Blumkin, Lubov; Linial, Michal; Kosloff, Mickey

Acceptability and Usability of a Digital Behavioral Health Platform for Youth at Risk of Suicide: User-Centered Design Study With Patients, Practitioners, and Business Gatekeepers

针对有自杀风险的青少年,一项数字行为健康平台的可接受性和可用性研究:以患者、从业人员和业务把关人为参与者的用户中心设计研究

Tse, Trinity Chloe; Weiner, Lauren S; Funkhouser, Carter J; DeLuise, Danielle; Cullen, Colleen; Blumkin, Zachary; O'Brien, Casey; Auerbach, Randy P; Allen, Nicholas B

Study Preregistration: Testing a Digital Suicide Risk Reduction Platform for Adolescents: A Pragmatic Randomized Controlled Trial

研究预注册:测试面向青少年的数字自杀风险降低平台:一项实用性随机对照试验

Funkhouser, Carter J; Tse, Trinity C; Weiner, Lauren S; deLuise, Danielle; Pagliaccio, David; Durham, Katherine; Cullen, Colleen C; Blumkin, Zachary K; O'Brien, Casey T; Allen, Nicholas B; Auerbach, Randy P

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

对 ITPR1 错义变异的详细分析指导诊断和治疗方案设计

Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K; Dabir, Tabib; Morrison, Patrick J; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J M; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martínez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D; Becker, Esther B E; Németh, Andrea H

Home-video EEG monitoring in a pediatric setting

在儿科环境中进行家庭视频脑电图监测

Michaeli, Yael; Blumkin, Lubov; Medvedovsky, Mordekhay; Dalal, Ilan; Nissenkorn, Andreea

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张型脊髓小脑性共济失调的表型异质性极高

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

Highlighting the Dystonic Phenotype Related to GNAO1

重点关注与GNAO1相关的肌张力障碍表型

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro-Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean-Marc; Blumkin, Lubov; Hull, Mariam; Parnes, Mered; Ravelli, Claudia; Poulen, Gaëtan; Calmels, Nadège; Nemeth, Andrea H; Smith, Martin; Barnicoat, Angela; Ewenczyk, Claire; Méneret, Aurélie; Roze, Emmanuel; Keren, Boris; Mignot, Cyril; Beroud, Christophe; Acosta, Fernando Jr; Nowak, Catherine; Wilson, William G; Steel, Dora; Capuano, Alessandro; Vidailhet, Marie; Lin, Jean-Pierre; Tranchant, Christine; Cif, Laura; Doummar, Diane; Anheim, Mathieu

Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders

BCORL1相关疾病患者的主要脑畸形包括:胼胝体发育不全、透明隔缺失和多小脑回畸形。

Gafner, Michal; Michelson, Marina; Argilli, Emanuela; Yosovich, Keren; Sherr, Elliott H; Parks, Kendall C; England, Eleina M; Hady-Cohen, Ronen; Leibovitz, Zvi; Lev, Dorit; Michaeli-Yosef, Yael; Lerman-Sagie, Tally; Blumkin, Lubov

Mitochondrial augmentation of CD34+ cells from healthy donors and patients with mitochondrial DNA disorders confers functional benefit

来自健康供体和线粒体DNA疾病患者的CD34+细胞的线粒体增强可带来功能益处

Elad Jacoby ,Moriya Ben Yakir-Blumkin ,Shiri Blumenfeld-Kan ,Yehuda Brody ,Amilia Meir ,Naomi Melamed-Book ,Tina Napso ,Gat Pozner ,Esraa Saadi ,Ayelet Shabtay-Orbach ,Natalie Yivgi-Ohana ,Noa Sher ,Amos Toren

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

将β-III血影蛋白相关表型扩展至伴有神经退行性变的非进行性先天性共济失调

Sancho, Paula; Andrés-Bordería, Amparo; Gorría-Redondo, Nerea; Llano, Katia; Martínez-Rubio, Dolores; Yoldi-Petri, María Eugenia; Blumkin, Luba; Rodríguez de la Fuente, Pablo; Gil-Ortiz, Fernando; Fernández-Murga, Leonor; Sánchez-Monteagudo, Ana; Lupo, Vincenzo; Pérez-Dueñas, Belén; Espinós, Carmen; Aguilera-Albesa, Sergio