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

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up

使用磁共振兼容套管对芳香族L-氨基酸脱羧酶缺乏症患儿进行壳核内注射Eladocagene Exuparvovec的药效学、疗效和安全性研究:48周随访

Curry, Daniel J; Pearl, Phillip L; Stone, Scellig S D; Gilbert, Donald L; Vadivelu, Sudhakar; Ben-Zeev, Bruria; Vestal, Matthew; Zafar, Muhammad; Tai, Chun-Hwei; Chou, Sheng-Che; Zibly, Zion; Ungar, Lior; Parnes, Mered; Hull, Mariam; Emrick, Lisa; Werner, Christian; Krolick, Alexis; Penematsa, Vinay; Wang, Antonia; Rahman, Rezwanur; Golden, Lee; Chien, Yin-Hsiu; Hwu, Paul Wuh-Liang

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Cognitive Outcome in Young Adults after Resolution of Epilepsy in Childhood

儿童期癫痫症状缓解后青年人的认知结果

Megreli, Jacob; Arkush, Leo; Derazne, Estela; Afek, Arnon; Twig, Gilad; Ben-Zeev, Bruria; Ahonniska Assa, Jaana; Heimer, Gali

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation

通过IGV解读揭示先前难以捉摸的Rett综合征病例中的MECP2结构变异

Poleg, Tomer; Hadar, Noam; Heimer, Gali; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan M; Freund, Ofek; Kaur, Simran; Christodoulou, John; Ben-Zeev, Bruria; Birk, Ohad S

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts

MED29双等位基因变异导致脑桥小脑发育不全伴白内障

Arkush, Leo; van Woerden, Geeske M; Ziv, Limor; Marek-Yagel, Dina; Fonseca, Reginald; Brevé, Esmee; Barel, Ortal; Shalva, Nechama; Veber, Alvit; Anikster, Yair; Ben-Ami Raichman, Dominique; Musallam, Banan; Marcu, Shai; Nissenkorn, Andreea; Mandel, Hanna; Kushner, Steven A; Ben Zeev, Bruria; Heimer, Gali

Bone health and bisphosphonate treatment in females with Rett syndrome in a national center

国家中心对患有雷特综合征的女性进行骨骼健康和双膦酸盐治疗的研究

Levy-Shraga, Yael; Goldmann, Simon; Gruber, Noah; Tripto-Shkolnik, Liana; Modan-Moses, Dalit; Givon, Uri; Ben-Zeev, Bruria

Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series

乙酰唑胺辅助治疗SLC6A1相关神经发育障碍的难治性癫痫:一项探索性病例系列研究

Melikishvili, Gia; Dulac, Olivier; Koniashvili, Otar; Mamardashvili, Giorgi; Gachechiladze, Tamar; Tabatadze, Nazhi; Melikishvili, Mariam; Gamirova, Rimma; Tomenko, Tatyana; Bakhtin, Igor; Freed, Amber; Bossi, Elena; Ben-Zeev, Bruria; Kluger, Gerhard; Falace, Antonio; Riva, Antonella; Kaila, Kai; Striano, Pasquale

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events

双等位基因PIGM编码变异导致难治性癫痫和智力障碍,但无血栓事件

Heimer, Gali; Pode-Shakked, Ben; Marek-Yagel, Dina; Vernitsky, Helly; Tzadok, Michal; Barel, Ortal; Eyal, Eran; Ben-Zeev, Bruria; Atzmon, Gil; Anikster, Yair

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

GRIA3基因的功能获得性变异和功能丧失性变异会导致不同的神经发育表型。

Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; Sully, Krystal; Murali, Chaya N; Burrage, Lindsay C; Plaud Gonzalez, Julie Ana; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jérémie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Mélanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Ayala Valenzuela, Fernando Eduardo; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Patron Romero, Leslie; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortüm, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Møller, Rikke S; Tümer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R; Shi, Yun Stone; Kristensen, Anders S

Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic

先前定义的意义未明的变异可能在癫痫中发挥重要作用,某些变异之间的相互作用可能导致致病性。

Hussein, Yara; Weisblum-Neuman, Hila; Ben Zeev, Bruria; Stern, Shani