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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease

罕见但重要?评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Sarmiento, Ignacio Juan Keller; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Sassi, Samia Ben; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

Five-Year Outcomes from Deep Brain Stimulation of the Subthalamic Nucleus for Parkinson Disease

帕金森病患者接受丘脑底核深部脑刺激五年疗效

Starr, Philip A; Shivacharan, Rajat S; Goldberg, Edward; Tröster, Alexander I; House, Paul A; Giroux, Monique L; Hebb, Adam O; Whiting, Donald M; Leichliter, Timothy A; Ostrem, Jill L; Metman, Leo Verhagen; Sani, Sepehr; Karl, Jessica A; Siddiqui, Mustafa S; Tatter, Stephen B; Haq, Ihtsham Ul; Machado, Andre G; Gostkowski, Michal; Tagliati, Michele; Mamelak, Adam N; Okun, Michael S; Foote, Kelly D; Moguel-Cobos, Guillermo; Ponce, Francisco A; Pahwa, Rajesh; Lyons, Kelly; Buetefisch, Cathrin M; Gross, Robert E; Luca, Corneliu C; Jagid, Jonathan R; Revuelta, Gonzalo J; Takacs, Istvan; Pourfar, Michael H; Mogilner, Alon Y; Duker, Andrew P; Mandybur, George T; Rosenow, Joshua M; Zadikoff, Cindy; Khandhar, Suketu M; Sedrak, Mark; Phibbs, Fenna T; Neimat, Joseph; Durphy, Jennifer; Ramirez-Zamora, Adolfo; Pilitsis, Julie G; Uitti, Ryan J; Wharen, Robert; Park, Michael C; Vitek, Jerrold L

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Genome-wide association study of neuropathological features in Lewy body disease

路易体病神经病理特征的全基因组关联研究

Valentino, Rebecca R; Koga, Shunsuke; Soto-Beasley, Alexandra I; Ono, Daisuke; Wieczorek, Mikolaj A; Johnson, Patrick W; White, Launia J; Watkins, Molly M; Murray, Melissa E; Kasanuki, Koji; McLean, Pamela J; Springer, Wolfdieter; Uitti, Ryan J; Fields, Julie A; Botha, Hugo; Ramanan, Vijay K; Kantarci, Kejal; Lowe, Val J; Jack, Clifford R Jr; Bras, Jose; Guerreiro, Rita; Ertekin-Taner, Nilufer; Savica, Rodolfo; Graff-Radford, Jonathan; Petersen, Ronald C; Parisi, Joseph E; Reichard, R Ross; Graff-Radford, Neill R; Ferman, Tanis J; Boeve, Bradley F; Wszolek, Zbigniew K; Dickson, Dennis W; Heckman, Michael G; Ross, Owen A

Neuropathology, Localized Proteomics, and Imaging of the Choroid Plexus across the Alzheimer's Disease Continuum

阿尔茨海默病连续谱中脉络丛的神经病理学、局部蛋白质组学和成像

Strickland, Samantha L; Morel, Hélène; Prusinski, Christian; Allen, Mariet; Patel, Tulsi A; Carrasquillo, Minerva M; Conway, Olivia J; Lincoln, Sarah J; Reddy, Joseph S; Nguyen, Thuy; Malphrus, Kimberly G; Soto, Alexandra I; Walton, Ronald L; Crook, Julia E; Murray, Melissa E; Boeve, Bradley F; Petersen, Ronald C; Lucas, John A; Ferman, Tanis J; Uitti, Ryan J; Wszolek, Zbigniew K; Ross, Owen A; Graff-Radford, Neill R; Dickson, Dennis W; Ertekin-Taner, Nilüfer; Leitner, Dominique; Li, Chenyang; Pang, Huize; Bruno, Mary; Faustin, Arline; Devinsky, Orrin; Kanshin, Evgeny; Ueberheide, Beatrix; Zaim‐Wadghiri, Youssef; Zhang, Jiangyang; Ge, Yulin; Wisniewski, Thomas

Early subtypes and progressions of progressive supranuclear palsy: a data-driven brain bank study

进行性核上性麻痹的早期亚型和进展:一项基于数据的脑库研究

Ono, Daisuke; Sekiya, Hiroaki; Ghayal, Nikhil B; Maier, Alexia R; Roemer, Shanu F; Uitti, Ryan J; Litvan, Irene; Josephs, Keith A; Wszolek, Zbigniew K; Dickson, Dennis W

Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease

罕见但重要:评估帕金森病中与肌张力障碍相关的基因变异

Lange, Lara M; Fang, Zih-Hua; Screven, Laurel; Tan, Ai Huey; Alcalay, Roy N; Amouri, Rim; Bovenzi, Roberta; Fenn, Matilda; Frost, Joshua L I; Jankovic, Joseph; Jasaityte, Simona; Jaunmuktane, Zane; Jeon, Beomseok; Keller Sarmiento, Ignacio Juan; Krüger, Rejko; Kuhlenbäumer, Gregor; Lin, Chin-Hsien; Pavelka, Lukas; Periñan, Maria Teresa; Ben Sassi, Samia; Schirinzi, Tommaso; Shin, Jung Hwan; Shulman, Joshua M; Tay, Yi Wen; Uitti, Ryan; Warner, Tom; Wszolek, Zbigniew K; Wu, Lesley; Wu, Ruey-Meei; Zeuner, Kirsten E; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolò E; Morris, Huw R; Lim, Shen-Yang; Lohmann, Katja; Klein, Christine

Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease

系统性罕见变异分析确定 RAB32 是家族性帕金森病的易感基因

Paul J Hop # ,Dongbing Lai # ,Pamela J Keagle ,Desiree M Baron ,Brendan J Kenna ,Maarten Kooyman ,Shankaracharya ,Cheryl Halter ,Letizia Straniero ,Rosanna Asselta ,Salvatore Bonvegna ,Alexandra I Soto-Beasley ,Ryan J Uitti ,Ioannis Ugo Isaias ,Gianni Pezzoli ,Nicola Ticozzi ,Owen A Ross ,Jan H Veldink ,Tatiana M Foroud ,Kevin P Kenna ,John E Landers

Role of GBA variants in Lewy body disease neuropathology.

GBA变异在路易体病神经病理学中的作用

Walton Ronald L, Koga Shunsuke, Beasley Alexandra I, White Launia J, Griesacker Teresa, Murray Melissa E, Kasanuki Koji, Hou Xu, Fiesel Fabienne C, Springer Wolfdieter, Uitti Ryan J, Fields Julie A, Botha Hugo, Ramanan Vijay K, Kantarci Kejal, Lowe Val J, Jack Clifford R, Ertekin-Taner Nilufer, Savica Rodolfo, Graff-Radford Jonathan, Petersen Ronald C, Parisi Joseph E, Reichard R Ross, Graff-Radford Neill R, Ferman Tanis J, Boeve Bradley F, Wszolek Zbigniew K, Dickson Dennis W, Ross Owen A, Heckman Michael G