Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; McElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

SART3的变异引起以睾丸发育失败和神经元缺陷为特征的剪接病

NATURE COMMUNICATIONS

IF15.7

2023-06-096

OAAI

Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H.

The role of the adenosine system in epilepsy and its comorbidities

腺苷系统在癫痫及其共患病中的作用

BRITISH JOURNAL OF PHARMACOLOGY

IF7.7

2023-05-0814

Scientific communication and the semantics of sentience

NEURON

IF15

2023-03-017

OAAI

Antisense oligonucleotide therapy for KCNT1 encephalopathy

JCI INSIGHT

IF6.1

2022-12-0824

In vitro neurons learn and exhibit sentience when embodied in a simulated game-world

当体现在模拟的游戏世界时，体外神经元学习并表现出感觉

NEURON

IF15

2022-12-01102

OAAI

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

BIOCHEMICAL SOCIETY TRANSACTIONS

IF4.3

2022-08-2325

OAAI

Impaired glymphatic function in the early stages of disease in a TDP-43 mouse model of amyotrophic lateral sclerosis

肌萎缩性侧索硬化症TDP-43小鼠模型在疾病早期的淋巴功能受损

TRANSLATIONAL NEURODEGENERATION

IF15.2

2022-03-1533

OAAI

Early and progressive dysfunction revealed by in vivo neurite imaging in the rNLS8 TDP-43 mouse model of ALS

NEUROIMAGE-CLINICAL

IF3.6

2022-01-014

OAAI

Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury

CIRCULATION

IF38.6

2021-09-2153

Redd, Meredith A.; Scheuer, Sarah E.; Saez, Natalie J.; Yoshikawa, Yusuke; Chiu, Han Sheng; Gao, Ling; Hicks, Mark; Villanueva, Jeanette E.; Joshi, Yashutosh; Chow, Chun Yuen; Cuellar-Partida, Gabriel; Peart, Jason N.; Hoe, Louise E. See; Chen, Xiaoli; Sun, Yuliangzi; Suen, Jacky Y.; Hatch, Robert J.; Rollo, Ben; Xia, Di; Alzubaidi, Mubarak A. H.; Maljevic, Snezana; Quaife-Ryan, Gregory A.; Hudson, James E.; Porrello, Enzo R.; White, Melanie Y.; Cordwell, Stuart J.; Fraser, John F.; Petrou, Steven; Reichelt, Melissa E.; Thomas, Walter G.; King, Glenn F.; Macdonald, Peter S.; Palpant, Nathan J.

New era of personalised epilepsy management

个性化癫痫管理的新时代

BMJ-BRITISH MEDICAL JOURNAL

IF42.7

2020-10-0918

OAAI

Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies?

EPILEPSIA

IF6.6

2018-04-166

OAAI

Multipotent Caudal Neural Progenitors Derived from Human Pluripotent Stem Cells That Give Rise to Lineages of the Central and Peripheral Nervous System