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

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset

LRRK2 p.A419V 与东亚人群帕金森病的相关性及发病年龄分析

Lim, Kai Shi; Periñan, Maria Teresa; Chew, Elaine Guo Yan; Lee, Paul Suhwan; Akçimen, Fulya; Lim, Jia Lun; Koretsky, Mathew J; Funayama, Manabu; Yoshino, Hiroyo; Hattori, Nobutaka; Kaiyrzhanov, Rauan; Houlden, Henry; Isayan, Mariam; Tay, Yi Wen; Toh, Tzi Shin; Lit, Lei-Cheng; Khairul Anuar, Anis Nadhirah; Ding, Hans Xing; Screven, Laurel; Ibrahim, Norlinah Mohamed; Lin, Chin-Hsien; Kim, Han-Joon; Lee, Jee-Young; Chung, Sun Ju; Foo, Jia Nee; Tan, Eng-King; Lim, Shen-Yang; Tan, Ai Huey; Bandres-Ciga, Sara; Ahmad-Annuar, Azlina

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

Tackling a disease on a global scale, the Global Parkinson's Genetics Program, GP2: A new generation of opportunities

全球帕金森病遗传学计划 (GP2) 旨在从全球层面应对帕金森病,为人类带来新一代机遇。

Blauwendraat, Cornelis; Noyce, Alastair J; Mata, Ignacio F; Screven, Laurel A; Solle, J; Dumanis, Sonya B; Riley, Ekemini A; Periñan, Maria Teresa; Okubadejo, Njideka; Klein, Christine; Morris, Huw R; Singleton, Andrew B

Endoscopic percutaneous extraction of a retained bullet fragment in the lumbar spine for lead toxicity management: illustrative case

经皮内镜下取出腰椎内残留弹片治疗铅中毒:病例报告

Chung, Richard J; Screven, Ryan; Soto-Rubio, Diego T; Neal, Elliot G; Kumar, Jay I; Hayman, Erik; Kim, Patrick

The LRRK2 p.A419V variant associates with risk of Parkinson's disease in the East Asian population and an evaluation on age of onset

LRRK2 p.A419V 变异与东亚人群帕金森病风险相关,并评估了其与发病年龄的关系。

Lim, Kai Shi; Periñan, Maria Teresa; Chew, Elaine Guo Yan; Lee, Paul Suhwan; Akçimen, Fulya; Lim, Jia Lun; Koretsky, Mathew J; Funayama, Manabu; Yoshino, Hiroyo; Hattori, Nobutaka; Kaiyrzhanov, Rauan; Houlden, Henry; Isayan, Mariam; Tay, Yi Wen; Toh, Tzi Shin; Lit, Lei-Cheng; Khairul Anuar, Anis Nadhirah; Ding, Hans Xing; Screven, Laurel; Mohamed Ibrahim, Norlinah; Lin, Chin-Hsien; Kim, Han-Joon; Lee, Jee-Young; Chung, Sun Ju; Foo, Jia Nee; Tan, Eng-King; Lim, Shen-Yang; Tan, Ai Huey; Bandres-Ciga, Sara; Ahmad-Annuar, Azlina

Successful retrieval of a retained Jamshidi needle fragment from the L4 pedicle following elective basivertebral nerve ablation: illustrative case

成功取出L4椎弓根内残留的Jamshidi针碎片(择期行椎基底神经切除术后):病例报告

Yeganeh, Kiana J; Vignolles-Jeong, Joshua; Kopparapu, Srujan; Screven, Ryan; Saleh, Dana; Soto Rubio, Diego; Carballo-Cuello, Cesar; Rostami, Mohsen; Alikhani, Puya

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

The age at onset of LRRK2 p.Gly2019Ser Parkinson's disease across ancestries and countries of origin

LRRK2 p.Gly2019Ser 帕金森病在不同种族和原籍国的发病年龄

Lüth, Theresa; Laabs, Björn-Hergen; Sendel, Sebastian; König, Inke R; Caliebe, Amke; Noyce, Alastair J; Screven, Laurel A; Bardien, Soraya; Farrer, Matthew; Hentati, Faycel; Klein, Christine; Ben Sassi, Samia; Trinh, Joanne

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

帕金森病遗传变异的全球图谱:多种族背景对已确立的疾病基因及其转化意义的启示

Lange, Lara M; Fang, Zih-Hua; Makarious, Mary B; Kuznetsov, Nicole; Brolin, Kajsa Atterling; Ballard, Shannon; Bardien, Soraya; Doquenia, Maria Leila; Heutink, Peter; Houlden, Henry; Iwaki, Hirotaka; Jasaityte, Simona; Jones, Lietsel; Junker, Johanna; Kaiyrzhanov, Rauan; Koretsky, Mathew J; Kumar, Kishore R; Leonard, Hampton L; Levine, Kristin S; Lim, Shen-Yang; Mencacci, Niccoló E; Mohamed, Wael M Y; Nalls, Mike A; Noyce, Alastair J; Ojha, Rajeev; Okubadejo, Njideka U; Rehman, Shoaib Ur; Screven, Laurel; Shashkin, Chingiz; Sopromadze, Sophia; Stafford, Eleanor J; Tan, Ai Huey; Tan, Manuela; Tavadyan, Zaruhi; Trinh, Joanne; Tserensodnom, Bayasgalan; Valente, Enza Maria; Vitale, Dan; Zharkinbekova, Nazira; Lohmann, Katja; Bandres-Ciga, Sara; Blauwendraat, Cornelis; Singleton, Andrew; Morris, Huw R; Klein, Christine

Temporal dynamics of proteome and phosphorproteome during neuronal differentiation in the reference KOLF2.1J iPSC line.

参考 KOLF2.1J iPSC 系神经元分化过程中蛋白质组和磷酸化蛋白质组的时间动态变化

Hao Ying, Li Ziyi, Lara Erika, Ramos Daniel M, Santiana Marianist, Jin Benjamin, Epstein Jacob, Camacho Jasmin, Carmiol Nicole, Kowal Isabelle, Jarreau Paige, Weller Cory A, Klaisner Sydney, Screven Laurel A, Pantazis Caroline B, Nalls Mike A, Narayan Priyanka, Ferrucci Luigi, Singleton Andrew B, Ward Michael E, Cookson Mark R, Qi Yue Andy