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

Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies

TMEM106B 缺失导致髓鞘形成缺陷:对额颞叶痴呆治疗策略的影响

Xiaolai Zhou, Alexandra M Nicholson, Yingxue Ren, Mieu Brooks, Peizhou Jiang, Aamir Zuberi, Hung Nguyen Phuoc, Ralph B Perkerson, Billie Matchett, Tammee M Parsons, NiCole A Finch, Wenlang Lin, Wenhui Qiao, Monica Castanedes-Casey, Virginia Phillips, Ariston L Librero, Yan Asmann, Guojun Bu, Melissa

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Tmem106b 的缺失无法改善 C9ORF72 重复诱导毒性的 AAV 小鼠模型中的额颞叶痴呆样表型

Alexandra M Nicholson, Xiaolai Zhou, Ralph B Perkerson, Tammee M Parsons, Jeannie Chew, Mieu Brooks, Mariely DeJesus-Hernandez, NiCole A Finch, Billie J Matchett, Aishe Kurti, Karen R Jansen-West, Emilie Perkerson, Lillian Daughrity, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Fenghu

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

肌萎缩侧索硬化症和额颞叶痴呆中的TIA1突变促进相分离并改变应激颗粒动力学

Ian R Mackenzie ,Alexandra M Nicholson ,Mohona Sarkar ,James Messing ,Maria D Purice ,Cyril Pottier ,Kavya Annu ,Matt Baker ,Ralph B Perkerson ,Aishe Kurti ,Billie J Matchett ,Tanja Mittag ,Jamshid Temirov ,Ging-Yuek R Hsiung ,Charles Krieger ,Melissa E Murray ,Masato Kato ,John D Fryer ,Leonard Petrucelli ,Lorne Zinman ,Sandra Weintraub ,Marsel Mesulam ,Julia Keith ,Sasha A Zivkovic ,Veronica Hirsch-Reinshagen ,Raymond P Roos ,Stephan Züchner ,Neill R Graff-Radford ,Ronald C Petersen ,Richard J Caselli ,Zbigniew K Wszolek ,Elizabeth Finger ,Carol Lippa ,David Lacomis ,Heather Stewart ,Dennis W Dickson ,Hong Joo Kim ,Ekaterina Rogaeva ,Eileen Bigio ,Kevin B Boylan ,J Paul Taylor ,Rosa Rademakers

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

伴有 TIA1 突变的 ALS/FTD 的临床和神经病理学特征

Veronica Hirsch-Reinshagen, Cyril Pottier, Alexandra M Nicholson, Matt Baker, Ging-Yuek R Hsiung, Charles Krieger, Pheth Sengdy, Kevin B Boylan, Dennis W Dickson, Marsel Mesulam, Sandra Weintraub, Eileen Bigio, Lorne Zinman, Julia Keith, Ekaterina Rogaeva, Sasha A Zivkovic, David Lacomis, J Paul Tay

Prosaposin is a regulator of progranulin levels and oligomerization

Prosaposin 是前颗粒蛋白水平和寡聚化的调节剂

Alexandra M Nicholson, NiCole A Finch, Marcio Almeida, Ralph B Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R Wood, Timothy M Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M Teslov

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

全基因组测序揭示 TBK1 和 OPTN 突变在无运动神经元疾病的额颞叶变性中起重要作用

Cyril Pottier, Kevin F Bieniek, NiCole Finch, Maartje van de Vorst, Matt Baker, Ralph Perkersen, Patricia Brown, Thomas Ravenscroft, Marka van Blitterswijk, Alexandra M Nicholson, Michael DeTure, David S Knopman, Keith A Josephs, Joseph E Parisi, Ronald C Petersen, Kevin B Boylan, Bradley F Boeve, N

CSF1R mutations link POLD and HDLS as a single disease entity

CSF1R 突变将 POLD 和 HDLS 关联为单一疾病实体

Alexandra M Nicholson, Matt C Baker, Nicole A Finch, Nicola J Rutherford, Christian Wider, Neill R Graff-Radford, Peter T Nelson, H Brent Clark, Zbigniew K Wszolek, Dennis W Dickson, David S Knopman, Rosa Rademakers

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma

全基因组筛选确定 sortilin 附近的 rs646776 是人类血浆中前颗粒蛋白水平的调节剂

Minerva M Carrasquillo, Alexandra M Nicholson, NiCole Finch, J Raphael Gibbs, Matt Baker, Nicola J Rutherford, Talisha A Hunter, Mariely DeJesus-Hernandez, Gina D Bisceglio, Ian R Mackenzie, Andrew Singleton, Mark R Cookson, Julia E Crook, Allissa Dillman, Dena Hernandez, Ronald C Petersen, Neill R