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

Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formation.

Lafora病基因治疗:EPM2A而非EPM2B过度表达会导致Lafora小体的形成。

Alao Esther O, Sheibani Mehrnaz, Wu Jun, Marriam Ummay, Evans Doretha, Kasiri Sahba, Verma Mayank, Nitschke Silvia, Nitschke Felix, Gray Steven J, Mitra Sharmistha, Minassian Berge A

CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly

CUL1 变异导致严重的神经发育障碍:来自人类遗传学和斑马鱼小头畸形模型的启示

Xu, Haoling; Liu, Zhen; Hamdan, Fadi F; Wu, Shengnan; He, Mei; Wang, Dan; Pan, Hu; Hu, Juanli; Chen, Yiqiao; Michaud, Jacques L; Minassian, Berge A; Duan, Jing; Liao, Jianxiang; Su, Jinping; Hu, Sainan; Peng, Yin; Ye, Qinyong; Chen, Li

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

常染色体隐性小脑共济失调:将基因转化为疗法

Fogel, Brent L; Klopstock, Thomas; Lynch, David R; Maltecca, Francesca; Verma, Mayank; Minassian, Berge A; Platt, Frances M; Gonçalves, Débora Farina; Puccio, Hélène; Roos, Andreas; Synofzik, Matthis

Targeting the trunk of multi-root common epilepsy with gene therapy

利用基因疗法靶向治疗多根常见癫痫的病灶

Sheibani, Mehrnaz; Minassian, Berge A

Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity.

聚焦超声可显著扩大 AAV 递送的 Cas9 的分布和活性

Gumusgoz Emrah, Kasiri Sahba, Youssef Ibrahim, Verma Mayank, Chopra Rajiv, Villarreal Acha Daniel, Wu Jun, Marriam Ummay, Alao Esther, Chen Xin, Guisso Dikran R, Gray Steven J, Shah Bhavya R, Minassian Berge A

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

神经丝轻链作为拉福拉病疾病进展的生物标志物

Muccioli, Lorenzo; Ganceviciute, Bazile; Becker, Felicitas; Minardi, Raffaella; Tappatà, Maria; Bachhuber, Franziska; Alkhatib, Mahmoud; Cirak, Sebahattin; Weishaupt, Jochen; Verma, Mayank; Tumani, Hayrettin; Wagner, Jan; Messahel, Souad; Nitschke, Felix; Minassian, Berge A; Bisulli, Francesca; Brenner, David

The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness

第九届拉福拉科学研讨会:罕见癫痫群体在临床准备方面取得进展

Williams, Meredith I; Donohue, Katherine J; Sanz, Pascual; Messahel, Souad; Serratosa, Jose M; Duran, Jordi; Michelucci, Roberto; Muccioli, Lorenzo; Delgado-Escueta, Antonio; Nguyen, Viet-Huong V; Minassian, Berge A; Gentry, Matthew S

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

AAV基因疗法治疗50型遗传性痉挛性截瘫:一项单例患者的I期临床试验

Dowling, James J; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M; Chen, Xin; Minassian, Berge A; Cohn, Ronald; Bonnemann, Carsten G; Gray, Steven J

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism

致命性癫痫拉福拉病的支链淀粉病抵抗自噬性糖原分解代谢

Wu, Jun; Kakhlon, Or; Weil, Miguel; Lossos, Alexander; Minassian, Berge A

(1)H and (31)P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease

(1)H 和 (31)P 磁共振波谱揭示了拉福拉病中潜在的致病和生物标志物代谢物改变。

Chan, Kimberly L; Panatpur, Aparna; Messahel, Souad; Dahshi, Hamza; Johnson, Talon; Henning, Anke; Ren, Jimin; Minassian, Berge A