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

Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes

临床相关SETBP1蛋白剂量变化的相互影响和非相互影响

Antonyan, Lilit; Zhang, Xin; Ni, Anjie; Peng, Huashan; Alsuwaidi, Shaima; Fleming, Peter; Zhang, Ying; Semenak, Amelia; Macintosh, Julia; Wu, Hanrong; Hettige, Nuwan C; Jefri, Malvin; Ernst, Carl

Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine

利用细胞拦截和精准医学治疗脑白质营养不良症

Coulombe, Benoit; Chapleau, Alexandra; Macintosh, Julia; Durcan, Thomas M; Poitras, Christian; Moursli, Yena A; Faubert, Denis; Pinard, Maxime; Bernard, Geneviève

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy

POLR3K基因的新型致病变异导致POLR3相关性脑白质营养不良

Perrier, Stefanie; Macintosh, Julia; Misiaszek, Agata D; Lambert, Gabrielle; Guerrero, Kether; Tran, Luan T; Müller, Christoph W; Pastinen, Tomi; Maegawa, Gustavo H B; Thiffault, Isabelle; 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

RNA Polymerases I and III in development and disease

RNA聚合酶I和III在发育和疾病中的作用

Watt, Kristin En; Macintosh, Julia; Bernard, Geneviève; Trainor, Paul A

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

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

POLR3D基因双等位致病变异改变tRNA转录并导致髓鞘形成不足性脑白质营养不良:病例报告

Macintosh, Julia; Perrier, Stefanie; Pinard, Maxime; Tran, Luan T; Guerrero, Kether; Prasad, Chitra; Prasad, Asuri N; Pastinen, Tomi; Thiffault, Isabelle; Coulombe, Benoit; Bernard, Geneviève

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

EIF2AK2基因的复发性新生变异导致髓鞘形成不足性脑白质营养不良

Macintosh, Julia; Thiffault, Isabelle; Pastinen, Tomi; Sztriha, László; Bernard, Geneviève

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration

NRROS基因中发现的新型双等位基因变异与致命性小胶质细胞病变、脑钙化和神经退行性变相关。

Macintosh, Julia; Derksen, Alexa; Poulin, Chantal; Braverman, Nancy; Vanderver, Adeline; Thiffault, Isabelle; Albrecht, Steffen; Bernard, Geneviève