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

Comprehensive genotype-phenotype analysis in POLR3-related disorders

POLR3相关疾病的综合基因型-表型分析

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Gauthier, Samuel; Derksen, Alexa; Sabbagh, Quentin; Girbig, Mathias; Misiaszek, Agata D; Pizzino, Amy M; Renaud, Deborah L; De Assis Pereira, Danilo; Okuda, Paola; Karoleska, Luciana Maestri; Keller, Stephanie; Chong, Karen; Gauquelin, Laurence; Brais, Bernard; Leube, Barbara; Grider, Tiffany; Shy, Michael E; Schüle, Rebecca; Minnerop, Martina; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Müller, Christoph W; Vanderver, Adeline; Wolf, Nicole I; Bernard, Geneviève

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Polr3b小鼠脑白质营养不良模型中的髓鞘形成不足、牙齿缺失和颅面畸形

Michell-Robinson, Mackenzie A; Watt, Kristin E N; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthué A; Liu, Hanwen; Cox, Timothy C; Müller, Christoph W; Kennedy, Timothy E; Coulombe, Benoit; Rudko, David A; Trainor, Paul A; Bernard, Geneviève

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

RNA聚合酶III亚基表达减少会导致少突胶质细胞发育缺陷

Macintosh Julia, Michell-Robinson Mackenzie, Chen Xiaoru, Bernard Geneviève

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

利用新一代测序技术解决神经科临床中遗传性白质疾病的病因:挑战与经验教训

Perrier, Stefanie; Guerrero, Kether; Tran, Luan T; Michell-Robinson, Mackenzie A; Legault, Geneviève; Brais, Bernard; Sylvain, Michel; Dorman, James; Demos, Michelle; Köhler, Wolfgang; Pastinen, Tomi; Thiffault, Isabelle; Bernard, Geneviève

Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults

眼齿指发育不良:成人髓鞘形成不足性脑白质营养不良的病因

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Lucia, Cassandra; Tran, Luan T; Thiffault, Isabelle; Köhler, Wolfgang; Bernard, Geneviève

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches

POLR3相关脑白质营养不良:探索潜在的治疗方法

Perrier, Stefanie; Michell-Robinson, Mackenzie A; Bernard, Geneviève

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

扩展 RNA 聚合酶 III 相关脑白质营养不良的表型和分子谱

Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K; Michell-Robinson, Mackenzie A; Tran, Luan T; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B; Tejera-Martin, Ingrid; Monton, Fernando I; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Geneviève

Roles of microglia in brain development, tissue maintenance and repair

小胶质细胞在大脑发育、组织维持和修复中的作用

Michell-Robinson, Mackenzie A; Touil, Hanane; Healy, Luke M; Owen, David R; Durafourt, Bryce A; Bar-Or, Amit; Antel, Jack P; Moore, Craig S

P2Y12 expression and function in alternatively activated human microglia

P2Y12 在替代激活的人类小胶质细胞中的表达和功能

Moore, Craig S; Ase, Ariel R; Kinsara, Angham; Rao, Vijayaraghava T S; Michell-Robinson, Mackenzie; Leong, Soo Yuen; Butovsky, Oleg; Ludwin, Samuel K; Séguéla, Philippe; Bar-Or, Amit; Antel, Jack P