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

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease

扩大膜联蛋白A11蛋白病在额颞叶变性和运动神经元疾病中的谱系

Ghayal, Nikhil B; Crook, Richard J; Jain, Angita; Sachdeva, Gunveen; Jiang, Peizhou; Roemer, Shanu F; Sekiya, Hiroaki; DeTure, Michael A; Baker, Matthew C; De Coster, Wouter; Oskarsson, Björn; Josephs, Keith A; Rademakers, Rosa; van Blitterswijk, Marka M; Dickson, Dennis W

Rapid desensitization through immunoadsorption during cardiopulmonary bypass. A novel method to facilitate human leukocyte antigen incompatible heart transplantation

体外循环期间通过免疫吸附进行快速脱敏。一种促进人类白细胞抗原不相容心脏移植的新方法。

Issitt, Richard W; Cudworth, Eamonn; Cortina-Borja, Mario; Gupta, Arun; Kallon, Delordson; Crook, Richard; Shaw, Michael; Robertson, Alex; Tsang, Victor T; Henwood, Sophie; Muthurangu, Vivek; Sebire, Neil J; Burch, Michael; Fenton, Matthew

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中融合基因外显子插入缺失突变在肉瘤中的致病性

Rutherford, Nicola J; Finch, Nicole A; DeJesus-Hernandez, Mariely; Crook, Richard J P; Lomen-Hoerth, Catherine; Wszolek, Zbigniew K; Uitti, Ryan J; Graff-Radford, Neill R; Rademakers, Rosa

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

新生截断型FUS基因突变是散发性肌萎缩侧索硬化症的病因

DeJesus-Hernandez, Mariely; Kocerha, Jannet; Finch, NiCole; Crook, Richard; Baker, Matt; Desaro, Pamela; Johnston, Amelia; Rutherford, Nicola; Wojtas, Aleksandra; Kennelly, Kathleen; Wszolek, Zbigniew K; Graff-Radford, Neill; Boylan, Kevin; Rademakers, Rosa

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

对伊比利亚半岛和非洲人群样本中阿尔茨海默病基因的遗传筛查发现了早老素和APP基因的新突变。

Guerreiro, Rita Joao; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, Jose Miguel; Bullido, Maria J; Calado, Ana; Crook, Richard; Ferreira, Carla; Frank, Ana; Gómez-Isla, Teresa; Hernández, Isabel; Lleó, Alberto; Machado, Alvaro; Martínez-Lage, Pablo; Masdeu, José; Molina-Porcel, Laura; Molinuevo, José L; Pastor, Pau; Pérez-Tur, Jordi; Relvas, Rute; Oliveira, Catarina Resende; Ribeiro, Maria Helena; Rogaeva, Ekaterina; Sa, Alfredo; Samaranch, Lluís; Sánchez-Valle, Raquel; Santana, Isabel; Tàrraga, Lluís; Valdivieso, Fernando; Singleton, Andrew; Hardy, John; Clarimón, Jordi

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

血浆前粒蛋白水平可预测额颞叶痴呆患者及其无症状家族成员的前粒蛋白突变状态。

Finch, NiCole; Baker, Matt; Crook, Richard; Swanson, Katie; Kuntz, Karen; Surtees, Rebecca; Bisceglio, Gina; Rovelet-Lecrux, Anne; Boeve, Bradley; Petersen, Ronald C; Dickson, Dennis W; Younkin, Steven G; Deramecourt, Vincent; Crook, Julia; Graff-Radford, Neill R; Rademakers, Rosa

Overexpression of wild-type murine tau results in progressive tauopathy and neurodegeneration

野生型小鼠tau蛋白的过度表达会导致进行性tau蛋白病变和神经退行性变。

Adams, Stephanie J; Crook, Richard J P; Deture, Michael; Randle, Suzanne J; Innes, Amy E; Yu, Xin Z; Lin, Wen-Lang; Dugger, Brittany N; McBride, Melinda; Hutton, Mike; Dickson, Dennis W; McGowan, Eileen

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

家族性肌萎缩侧索硬化症患者中 TARDBP (TDP-43) 的新突变

Rutherford Nicola J, Zhang Yong-Jie, Baker Matt, Gass Jennifer M, Finch Nicole A, Xu Ya-Fei, Stewart Heather, Kelley Brendan J, Kuntz Karen, Crook Richard J P, Sreedharan Jemeen, Vance Caroline, Sorenson Eric, Lippa Carol, Bigio Eileen H, Geschwind Daniel H, Knopman David S, Mitsumoto Hiroshi, Petersen Ronald C, Cashman Neil R, Hutton Mike, Shaw Christopher E, Boylan Kevin B, Boeve Bradley, Graff-Radford Neill R, Wszolek Zbigniew K, Caselli Richard J, Dickson Dennis W, Mackenzie Ian R, Petrucelli Leonard, Rademakers Rosa

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

GRN 的 miR-659 结合位点的常见变异是 TDP43 阳性额颞叶痴呆的主要风险因素

Rademakers Rosa, Eriksen Jason L, Baker Matt, Robinson Todd, Ahmed Zeshan, Lincoln Sarah J, Finch Nicole, Rutherford Nicola J, Crook Richard J, Josephs Keith A, Boeve Bradley F, Knopman David S, Petersen Ronald C, Parisi Joseph E, Caselli Richard J, Wszolek Zbigniew K, Uitti Ryan J, Feldman Howard, Hutton Michael L, Mackenzie Ian R, Graff-Radford Neill R, Dickson Dennis W

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

早发性家族性阿尔茨海默病伴痉挛性截瘫、构音障碍、癫痫发作和 PSEN1 中的 N135S 突变

Rudzinski Leslie A, Fletcher Rita M, Dickson Dennis W, Crook Richard, Hutton Michael L, Adamson Jennifer, Graff-Radford Neill R