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

Human neuronal networks on micro-electrode arrays as a tool to assess genotype-phenotype correlation in CACNA1A-related disorders

利用微电极阵列构建人类神经元网络,作为评估 CACNA1A 相关疾病中基因型-表型相关性的工具

Hommersom, Marina P; Puvogel, Sofía; Scheefhals, Nicky; Carpentiero, Eleonora; Bouma, Marga; van Beusekom, Ellen; Dillen, Lieke; van de Warrenburg, Bart P C; Nadif Kasri, Nael; van Bokhoven, Hans

Evolutionary hotspots of structural variation drive inter-individual differences in the expression of fusion transcripts in the human brain

进化过程中结构变异的热点区域驱动着人类大脑中融合转录本表达的个体差异

Moses, Colette; Vanini, Angelica; Bocchi, Maria Chiara; Wagner, Luca; van Loenen, Isis; Latour, Brooke L; Kasri, Nael Nadif; Jacobs, Frank M J

CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

CACNA1A 单倍体不足会导致突触功能降低和内在兴奋性增加

Hommersom Marina P, Doorn Nina, Puvogel Sofía, Lewerissa Elly I, Mordelt Annika, Ciptasari Ummi, Kampshoff Franziska, Dillen Lieke, van Beusekom Ellen, Oudakker Astrid, Kogo Naoki, Dolga Amalia M, Frega Monica, Schubert Dirk, van de Warrenburg Bart P C, Nadif Kasri Nael, van Bokhoven Hans

Systematic analysis of genetic and phenotypic characteristics reveals antisense oligonucleotide therapy potential for one-third of neurodevelopmental disorders

对遗传和表型特征的系统分析表明,反义寡核苷酸疗法对三分之一的神经发育障碍具有潜在疗效。

Wijnant, Kim N; Nadif Kasri, Nael; Vissers, Lisenka E L M

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

靶向 AASS 可减轻神经毒性,并改善吡哆醇依赖性癫痫星形胶质细胞模型中的线粒体功能。

Schuurmans Imke M E, Engelke Udo, Abedrabbo Muna, Puvogel Sofía, Mijdam Rachel, Scholten Gijs-Jan, van Katwijk Sara B, Oudakker Astrid, Al-Shekaili Hilal H, Lefeber Dirk J, Leavitt Blair R, van Karnebeek Clara D M, Nadif Kasri Nael, Garanto Alejandro

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders

自噬相关基因的表观遗传调控:对神经发育障碍的影响

Lewerissa, Elly I; Nadif Kasri, Nael; Linda, Katrin

Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression

PCDH19 嵌合表达的条件性敲除小鼠模型中神经元网络活动和连接受损

Giorgia Giansante #, Sara Mazzoleni #, Antonio G Zippo, Luisa Ponzoni, Anna Ghilardi, Greta Maiellano, Elly Lewerissa, Eline van Hugte, Nael Nadif Kasri, Maura Francolini, Mariaelvina Sala, Luca Murru, Silvia Bassani #, Maria Passafaro #

Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome

家族性阿尔茨海默病伴APPdup和唐氏综合征中与脑淀粉样血管病相关的β-淀粉样蛋白肽特征

Amal Kasri # ,Elena Camporesi # ,Eleni Gkanatsiou ,Susana Boluda ,Gunnar Brinkmalm ,Lev Stimmer ,Junyue Ge ,Jörg Hanrieder ,Nicolas Villain ,Charles Duyckaerts ,Yannick Vermeiren ,Sarah E Pape ,Gaël Nicolas ,Annie Laquerrière ,Peter Paul De Deyn ,David Wallon ,Kaj Blennow ,Andre Strydom ,Henrik Zetterberg ,Marie-Claude Potier

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Addressing preliminary challenges in upscaling the recovery of lithium from spent lithium ion batteries by the electrochemical method: a review

利用电化学方法从废旧锂离子电池中回收锂并扩大生产规模所面临的初步挑战:综述

Kasri, Mohamad Arif; Mohd Halizan, Muhammad Zharfan; Harun, Irina; Bahrudin, Fadzli Irwan; Daud, Nuraini; Aizamddin, Muhammad Faiz; Amira Shaffee, Siti Nur; Rahman, Norazah Abd; Shafiee, Saiful Arifin; Mahat, Mohd Muzamir