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

Consequences of the Novel ALS-Associated KIF5A Variant c.2993-6C > A for Exon 27 Splicing and Axonal Transport of SFPQ.

新型 ALS 相关 KIF5A 变体 c.2993-6C > A 对 SFPQ 外显子 27 剪接和轴突运输的影响。

Rouleau Guy A, Yu Ziqi, Ross Jay P, Rochefort Daniel, Li Boting, Bornais Kate, Chum Marvin, Farhan Sali M K, Dion Patrick A

Autism-associated CHD8 controls reactive gliosis and neuroinflammation via remodeling chromatin in astrocytes.

与自闭症相关的 CHD8 通过重塑星形胶质细胞中的染色质来控制反应性胶质增生和神经炎症

Megagiannis Platon, Mei Yuan, Yan Rachel E, Yuan Lin, Wilde Jonathan J, Eckersberg Hailey, Suresh Rahul, Tan Xinzhu, Chen Hong, Farmer W Todd, Cha Kuwook, Le Phuong Uyen, Catoire Helene, Rochefort Daniel, Kwan Tony, Yee Brian A, Dion Patrick, Krishnaswamy Arjun, Cloutier Jean-Francois, Stifani Stefano, Petrecca Kevin, Yeo Gene W, Murai Keith K, Feng Guoping, Rouleau Guy A, Ideker Trey, Sanjana Neville E, Zhou Yang

SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndrome

SKOR1 对参与不宁腿综合征相关通路基因具有转录调控作用。

Sarayloo, Faezeh; Spiegelman, Dan; Rochefort, Daniel; Akçimen, Fulya; De Barros Oliveira, Rachel; Dion, Patrick A; Rouleau, Guy A

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor

STK32B 过表达引起的转录组变化揭示了可能与原发性震颤相关的通路

Liao, Calwing; Sarayloo, Faezeh; Vuokila, Veikko; Rochefort, Daniel; Akçimen, Fulya; Diamond, Simone; Houle, Gabrielle; Laporte, Alexandre D; Spiegelman, Dan; He, Qin; Catoire, Hélène; Dion, Patrick A; Rouleau, Guy A

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

对加拿大和巴西共济失调患者群体中 RFC1 重复序列扩增的研究:新构象的鉴定

Akçimen, Fulya; Ross, Jay P; Bourassa, Cynthia V; Liao, Calwing; Rochefort, Daniel; Gama, Maria Thereza Drumond; Dicaire, Marie-Josée; Barsottini, Orlando G; Brais, Bernard; Pedroso, José Luiz; Dion, Patrick A; Rouleau, Guy A

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1

两种不宁腿综合征易感基因之间的直接相互作用:MEIS1 和 SKOR1

Catoire, Helene; Sarayloo, Faezeh; Mourabit Amari, Karim; Apuzzo, Sergio; Grant, Alanna; Rochefort, Daniel; Xiong, Lan; Montplaisir, Jacques; Earley, Christopher J; Turecki, Gustavo; Dion, Patrick A; Rouleau, Guy A

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

RNF213与法裔加拿大人群的颅内动脉瘤相关

Zhou, Sirui; Ambalavanan, Amirthagowri; Rochefort, Daniel; Xie, Pingxing; Bourassa, Cynthia V; Hince, Pascale; Dionne-Laporte, Alexandre; Spiegelman, Dan; Gan-Or, Ziv; Mirarchi, Cathy; Zaharieva, Vessela; Dupré, Nicolas; Kobayashi, Hatasu; Hitomi, Toshiaki; Harada, Kouji; Koizumi, Akio; Xiong, Lan; Dion, Patrick A; Rouleau, Guy A

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition

抑制激酶WNK1/HSN2可通过恢复GABA抑制作用来缓解神经性疼痛。

Kahle, Kristopher T; Schmouth, Jean-François; Lavastre, Valérie; Latremoliere, Alban; Zhang, Jinwei; Andrews, Nick; Omura, Takao; Laganière, Janet; Rochefort, Daniel; Hince, Pascale; Castonguay, Geneviève; Gaudet, Rébecca; Mapplebeck, Josiane C S; Sotocinal, Susana G; Duan, JingJing; Ward, Catherine; Khanna, Arjun R; Mogil, Jeffrey S; Dion, Patrick A; Woolf, Clifford J; Inquimbert, Perrine; Rouleau, Guy A

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

外显子组测序在孤立性胼胝体发育不全患者中鉴定出隐性 CDK5RAP2 变异

Jouan, Loubna; Ouled Amar Bencheikh, Bouchra; Daoud, Hussein; Dionne-Laporte, Alexandre; Dobrzeniecka, Sylvia; Spiegelman, Dan; Rochefort, Daniel; Hince, Pascale; Szuto, Anna; Lassonde, Maryse; Barbelanne, Marine; Tsang, William Y; Dion, Patrick A; Théoret, Hugo; Rouleau, Guy A

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

C9orf72重复序列扩增是帕金森病的一种罕见遗传病因。

Lesage, Suzanne; Le Ber, Isabelle; Condroyer, Christel; Broussolle, Emmanuel; Gabelle, Audrey; Thobois, Stéphane; Pasquier, Florence; Mondon, Karl; Dion, Patrick A; Rochefort, Daniel; Rouleau, Guy A; Dürr, Alexandra; Brice, Alexis