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

Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder

针对 GNAO1 神经发育障碍的个性化等位基因特异性反义寡核苷酸

Inna Shomer, Nofar Mor, Shaul Raviv, Noga Budick-Harmelin, Tanya Matchevich, Sharon Avkin-Nachum, Yoach Rais, Rebecca Haffner-Krausz, Ariela Haimovich, Aviv Ziv, Reut Fluss, Bruria Ben-Ze'ev, Gali Heimer, Denis N Silachev, Vladimir L Katanaev, Dan Dominissini

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

线粒体脂肪酸合成缺陷会损害铁代谢并导致神经酰胺水平升高

Debdeep Dutta, Oguz Kanca, Seul Kee Byeon, Paul C Marcogliese, Zhongyuan Zuo, Rishi V Shridharan, Jun Hyoung Park; Undiagnosed Diseases Network; Guang Lin, Ming Ge, Gali Heimer, Jennefer N Kohler, Matthew T Wheeler, Benny A Kaipparettu, Akhilesh Pandey, Hugo J Bellen0

A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation

tecpr2 基因敲除小鼠表现出与自噬体积累相关的年龄依赖性神经轴突营养不良

Bat-Chen Tamim-Yecheskel, Milana Fraiberg, Kamilya Kokabi, Saskia Freud, Oren Shatz, Letizia Marvaldi, Nemanja Subic, Ori Brenner, Michael Tsoory, Raya Eilam-Altstadter, Inbal Biton, Alon Savidor, Nili Dezorella, Gali Heimer, Christian Behrends, Bruria Ben-Zeev, Zvulun Elazar

Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2

TECPR2 的 TECPR 结构域靶向自噬体的溶酶体

Milana Fraiberg, Bat-Chen Tamim-Yecheskel, Kamilya Kokabi, Nemanja Subic, Gali Heimer, Franziska Eck, Karsten Nalbach, Christian Behrends, Bruria Ben-Zeev, Oren Shatz, Zvulun Elazar

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities

RALGAPA1 中的双等位基因变异会导致严重的神经发育障碍、肌肉张力减退、婴儿痉挛和喂养异常

Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, Cynthia M Powell, Bader Alhaddad, Annette Seibt, Ortal Barel, Gali Heimer, Chen Hoffmann, Laurie A Demmer, Yezmin Perilla-Young, Marc Remke, Dagmar Wieczorek, Tharsini Navaratnarajah, Peter Lichtner, Dirk Klee, Hanan E Shamseldin, Fuad Al Mutairi

Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia

Netrin-G2 功能障碍导致 Rett 样表型,伴有反射缺失

Gali Heimer, Geeske M van Woerden, Ortal Barel, Dina Marek-Yagel, Nitzan Kol, Johannes B Munting, Minoeshka Borghei, Osama M Atawneh, Andreea Nissenkorn, Gideon Rechavi, Yair Anikster, Ype Elgersma, Steven A Kushner, Bruria Ben Zeev

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

AMPA 受体 GluA2 亚基缺陷是导致神经发育障碍的原因

Vincenzo Salpietro, Christine L Dixon, Hui Guo, Oscar D Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, S

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation

由于 PIGM 启动子突变导致糖基磷脂酰肌醇缺乏症导致脑静脉和门静脉血栓形成、巨头畸形和非典型失神性癫痫

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S Shouval, Dana

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

PPP3CA基因的新生突变导致严重的神经发育障碍并伴有癫痫发作

Candace T Myers ,Nicholas Stong ,Emily I Mountier ,Katherine L Helbig ,Saskia Freytag ,Joseph E Sullivan ,Bruria Ben Zeev ,Andreea Nissenkorn ,Michal Tzadok ,Gali Heimer ,Deepali N Shinde ,Arezoo Rezazadeh ,Brigid M Regan ,Karen L Oliver ,Michelle E Ernst ,Natalie C Lippa ,Maureen S Mulhern ,Zhong Ren ,Annapurna Poduri ,Danielle M Andrade ,Lynne M Bird ,Melanie Bahlo ,Samuel F Berkovic ,Daniel H Lowenstein ,Ingrid E Scheffer ,Lynette G Sadleir ,David B Goldstein ,Heather C Mefford ,Erin L Heinzen

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MECR 突变导致儿童期肌张力障碍和视神经萎缩(一种线粒体脂肪酸合成障碍)

Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Fl