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

Quantification of protein abundance and interaction defines a mechanism for operation of the circadian clock

蛋白质丰度和相互作用的量化定义了昼夜节律时钟的运行机制

Alex A Koch #, James S Bagnall #, Nicola J Smyllie, Nicola Begley, Antony D Adamson, Jennifer L Fribourgh, David G Spiller, Qing-Jun Meng, Carrie L Partch, Korbinian Strimmer, Thomas A House, Michael H Hastings, Andrew S I Loudon

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

C9ORF72 非编码区中 GGGGCC 六核苷酸重复序列的扩增会导致 9p 染色体连锁的额颞叶痴呆 (FTD) 和肌萎缩侧索硬化症 (ALS)。

DeJesus-Hernandez, Mariely; Mackenzie, Ian R; Boeve, Bradley F; Boxer, Adam L; Baker, Matt; Rutherford, Nicola J; Nicholson, Alexandra M; Finch, NiCole A; Flynn, Heather; Adamson, Jennifer; Kouri, Naomi; Wojtas, Aleksandra; Sengdy, Pheth; Hsiung, Ging-Yuek R; Karydas, Anna; Seeley, William W; Josephs, Keith A; Coppola, Giovanni; Geschwind, Daniel H; Wszolek, Zbigniew K; Feldman, Howard; Knopman, David S; Petersen, Ronald C; Miller, Bruce L; Dickson, Dennis W; Boylan, Kevin B; Graff-Radford, Neill R; Rademakers, Rosa

Ataxin-2 repeat-length variation and neurodegeneration

Ataxin-2重复序列长度变异与神经退行性变

Ross, Owen A; Rutherford, Nicola J; Baker, Matt; Soto-Ortolaza, Alexandra I; Carrasquillo, Minerva M; DeJesus-Hernandez, Mariely; Adamson, Jennifer; Li, Ma; Volkening, Kathryn; Finger, Elizabeth; Seeley, William W; Hatanpaa, Kimmo J; Lomen-Hoerth, Catherine; Kertesz, Andrew; Bigio, Eileen H; Lippa, Carol; Woodruff, Bryan K; Knopman, David S; White, Charles L 3rd; Van Gerpen, Jay A; Meschia, James F; Mackenzie, Ian R; Boylan, Kevin; Boeve, Bradley F; Miller, Bruce L; Strong, Michael J; Uitti, Ryan J; Younkin, Steven G; Graff-Radford, Neill R; Petersen, Ronald C; Wszolek, Zbigniew K; Dickson, Dennis W; Rademakers, Rosa

Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin.

与前粒蛋白 c.154delA 突变相关的阿尔茨海默病样表型

Kelley Brendan J, Haidar Wael, Boeve Bradley F, Baker Matt, Shiung Maria, Knopman David S, Rademakers Rosa, Hutton Mike, Adamson Jennifer, Kuntz Karen M, Dickson Dennis W, Parisi Joseph E, Smith Glenn E, Petersen Ronald C

Prominent phenotypic variability associated with mutations in Progranulin.

与前粒蛋白突变相关的显著表型变异

Kelley Brendan J, Haidar Wael, Boeve Bradley F, Baker Matt, Graff-Radford Neill R, Krefft Thomas, Frank Andrew R, Jack Clifford R Jr, Shiung Maria, Knopman David S, Josephs Keith A, Parashos Sotirios A, Rademakers Rosa, Hutton Mike, Pickering-Brown Stuart, Adamson Jennifer, Kuntz Karen M, Dickson Dennis W, Parisi Joseph E, Smith Glenn E, Ivnik Robert J, Petersen Ronald C

Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions

胆固醇相关的遗传风险评分与阿尔茨海默病影响的大脑区域的代谢减退有关

Reiman, Eric M; Chen, Kewei; Caselli, Richard J; Alexander, Gene E; Bandy, Daniel; Adamson, Jennifer L; Lee, Wendy; Cannon, Ashley; Stephan, Elizabeth A; Stephan, Dietrich A; Papassotiropoulos, Andreas

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

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

通过对 500,288 个单核苷酸多态性进行全基因组扫描,鉴定出一个新的进行性核上性麻痹风险位点

Melquist, Stacey; Craig, David W; Huentelman, Matthew J; Crook, Richard; Pearson, John V; Baker, Matt; Zismann, Victoria L; Gass, Jennifer; Adamson, Jennifer; Szelinger, Szabolcs; Corneveaux, Jason; Cannon, Ashley; Coon, Keith D; Lincoln, Sarah; Adler, Charles; Tuite, Paul; Calne, Donald B; Bigio, Eileen H; Uitti, Ryan J; Wszolek, Zbigniew K; Golbe, Lawrence I; Caselli, Richard J; Graff-Radford, Neill; Litvan, Irene; Farrer, Matthew J; Dickson, Dennis W; Hutton, Mike; Stephan, Dietrich A

New genes, new dilemmas: FTLD genetics and its implications for families

新基因,新难题:FTLD 遗传学及其对家庭的影响

Goldman, Jill S; Adamson, Jennifer; Karydas, Anna; Miller, Bruce L; Hutton, Mike

Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations

基于体素的形态测量学在伴有和不伴有前粒蛋白突变的泛素阳性包涵体额颞叶变性中的应用

Whitwell, Jennifer L; Jack, Clifford R Jr; Baker, Matthew; Rademakers, Rosa; Adamson, Jennifer; Boeve, Bradley F; Knopman, David S; Parisi, Joseph F; Petersen, Ronald C; Dickson, Dennis W; Hutton, Michael L; Josephs, Keith A