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

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry

FSHD1患者罕见特征的患病率和预测因素:来自法国FSHD注册研究的启示

Sanson, Benoît; Slioui, Abderhmane; Garcia, Jérémy; Klouvi, Lori; Lejeune, Julie; Stalens, Caroline; Guien, Céline; Rabarimeriarijaona, Sitraka; Bernard, Rafaëlle; Nectoux, Juliette; Attarian, Sharham; Bédat-Millet, Anne-Laure; Bouhour, Françoise; Boyer, François Constant; Chanson, Jean-Baptiste; Choumert, Ariane; Cintas, Pascal; De La Cruz, Elisa; Féasson, Léonard; Fournier, Maxime; Ghorab, Karima; Jacquin-Piques, Agnès; Laforêt, Pascal; Magot, Armelle; Michaud, Maud; Noury, Jean-Baptiste; Solé, Guilhem; Spinazzi, Marco; Stojkovic, Tanya; Tard, Céline; Villa, Luisa; Béroud, Christophe; Sacconi, Sabrina

Multi-scale integration of human brain vascular and CSF proteomes reveals biomarkers of cerebral amyloid angiopathy linked to Alzheimer's disease risk

人类脑血管和脑脊液蛋白质组的多尺度整合揭示了与阿尔茨海默病风险相关的脑淀粉样血管病生物标志物

Wojtas, Aleksandra M; Rathore, Saima; Dammer, Eric B; Yu, Lei; Seifar, Fatemeh; Gadhavi, Joshna; Shantaraman, Anantharaman; Duong, Duc M; Wu, Fang; Liu, Yue; Trautwig, Adam N; Fox, Edward J; Kelly, Kaylor M; Gearing, Marla; Rangaraju, Srikant; Oveisgharan, Sharham; Howell, Gareth R; Schneider, Julie A; Lee, Edward B; Menon, Vilas; Bennett, David A; Lah, James J; Golde, Todd E; Johnson, Erik C B; McEachin, Zachary T; Wingo, Aliza P; Wingo, Thomas S; Levey, Allan I; Seyfried, Nicholas T

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

一项关于与肌管蛋白相关蛋白(MTMRs)突变相关的夏科-马里-图斯病4B型(CMT4B)的多中心回顾性研究

Pareyson, Davide; Stojkovic, Tanya; Reilly, Mary M; Leonard-Louis, Sarah; Laurà, Matilde; Blake, Julian; Parman, Yesim; Battaloglu, Esra; Tazir, Meriem; Bellatache, Mounia; Bonello-Palot, Nathalie; Lévy, Nicolas; Sacconi, Sabrina; Guimarães-Costa, Raquel; Attarian, Sharham; Latour, Philippe; Solé, Guilhem; Megarbane, André; Horvath, Rita; Ricci, Giulia; Choi, Byung-Ok; Schenone, Angelo; Gemelli, Chiara; Geroldi, Alessandro; Sabatelli, Mario; Luigetti, Marco; Santoro, Lucio; Manganelli, Fiore; Quattrone, Aldo; Valentino, Paola; Murakami, Tatsufumi; Scherer, Steven S; Dankwa, Lois; Shy, Michael E; Bacon, Chelsea J; Herrmann, David N; Zambon, Alberto; Tramacere, Irene; Pisciotta, Chiara; Magri, Stefania; Previtali, Stefano C; Bolino, Alessandra