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

Genome-wide determinants of mortality and motor progression in Parkinson's disease

帕金森病死亡率和运动功能进展的全基因组决定因素

Manuela M X Tan ,Michael A Lawton ,Miriam I Pollard ,Emmeline Brown ,Raquel Real ,Alejandro Martinez Carrasco ,Samir Bekadar ,Edwin Jabbari ,Regina H Reynolds ,Hirotaka Iwaki ,Cornelis Blauwendraat ,Sofia Kanavou ,Leon Hubbard ,Naveed Malek ,Katherine A Grosset ,Nin Bajaj ,Roger A Barker ,David J Burn ,Catherine Bresner ,Thomas Foltynie ,Nicholas W Wood ,Caroline H Williams-Gray ,Ole A Andreassen ,Mathias Toft ,Alexis Elbaz ,Fanny Artaud ,Alexis Brice ,Jean-Christophe Corvol ,Jan Aasly ,Matthew J Farrer ,Michael A Nalls ,Andrew B Singleton ,Nigel M Williams ,Yoav Ben-Shlomo ,John Hardy ,Michele T M Hu ,Donald G Grosset ,Maryam Shoai ,Lasse Pihlstrøm ,Huw R Morris

The Foundational Data Initiative for Parkinson Disease: Enabling efficient translation from genetic maps to mechanism

帕金森病基础数据计划:实现从基因图谱到机制的高效转化

Elisangela Bressan ,Xylena Reed ,Vikas Bansal ,Elizabeth Hutchins ,Melanie M Cobb ,Michelle G Webb ,Eric Alsop ,Francis P Grenn ,Anastasia Illarionova ,Natalia Savytska ,Ivo Violich ,Stefanie Broeer ,Noémia Fernandes ,Ramiyapriya Sivakumar ,Alexandra Beilina ,Kimberley J Billingsley ,Joos Berghausen ,Caroline B Pantazis ,Vanessa Pitz ,Dhairya Patel ,Kensuke Daida ,Bessie Meechoovet ,Rebecca Reiman ,Amanda Courtright-Lim ,Amber Logemann ,Jerry Antone ,Mariya Barch ,Robert Kitchen ,Yan Li ,Clifton L Dalgard ,Dena G Hernandez ,Brooke E Hjelm ,Mike Nalls ,J Raphael Gibbs ,Steven Finkbeiner ,Mark R Cookson ,Kendall Van Keuren-Jensen ,David W Craig ,Andrew B Singleton ,Peter Heutink ,Cornelis Blauwendraat

A fully automated FAIMS-DIA mass spectrometry-based proteomic pipeline

一种全自动的基于FAIMS-DIA质谱的蛋白质组学分析流程

Luke Reilly ,Erika Lara ,Daniel Ramos ,Ziyi Li ,Caroline B Pantazis ,Julia Stadler ,Marianita Santiana ,Jessica Roberts ,Faraz Faghri ,Ying Hao ,Mike A Nalls ,Priyanka Narayan ,Yansheng Liu ,Andrew B Singleton ,Mark R Cookson ,Michael E Ward ,Yue A Qi

A CRISPRi/a platform in human iPSC-derived microglia uncovers regulators of disease states

利用 CRISPRi/a 平台在人 iPSC 衍生的小胶质细胞中揭示疾病状态的调控因子

Nina M Dräger ,Sydney M Sattler # ,Cindy Tzu-Ling Huang # ,Olivia M Teter ,Kun Leng ,Sayed Hadi Hashemi ,Jason Hong ,Giovanni Aviles ,Claire D Clelland ,Lihong Zhan ,Joe C Udeochu ,Lay Kodama ,Andrew B Singleton ,Mike A Nalls ,Justin Ichida ,Michael E Ward ,Faraz Faghri ,Li Gan ,Martin Kampmann

Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci

NSL复合物对线粒体自噬的调控是16q11.2和MAPT H1基因位点帕金森病遗传风险的基础。

Marc P M Soutar,Daniela Melandri,Benjamin O'Callaghan,Emily Annuario,Amy E Monaghan,Natalie J Welsh,Karishma D'Sa,Sebastian Guelfi,David Zhang,Alan Pittman,Daniah Trabzuni,Anouk H A Verboven,Kylie S Pan,Demis A Kia,Magda Bictash,Sonia Gandhi,Henry Houlden,Mark R Cookson,Nael Nadif Kasri,Nicholas W Wood,Andrew B Singleton,John Hardy,Paul J Whiting,Cornelis Blauwendraat,Alexander J Whitworth,Claudia Manzoni,Mina Ryten,Patrick A Lewis,Hélène Plun-Favreau

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

人类神经元中的全基因组 CRISPRi/a 筛查将溶酶体衰竭与铁死亡联系起来

Ruilin Tian, Anthony Abarientos, Jason Hong, Sayed Hadi Hashemi, Rui Yan, Nina Dräger, Kun Leng, Mike A Nalls, Andrew B Singleton, Ke Xu, Faraz Faghri, Martin Kampmann

The Parkinson's Disease DNA Variant Browser

帕金森病 DNA 变异浏览器

Jonggeol J Kim, Mary B Makarious, Sara Bandres-Ciga, Jesse Raphael Gibbs, Jinhui Ding, Dena G Hernandez, Janet Brooks, Francis P Grenn, Hirotaka Iwaki, Andrew B Singleton, Mike A Nalls, Cornelis Blauwendraat; International Parkinson's Disease Genomics Consortium (IPDGC)

Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease

TMEM175 p.M393T 变异的功能化作为帕金森病的风险因素

Sarah Jinn, Cornelis Blauwendraat, Dawn Toolan, Cheryl A Gretzula, Robert E Drolet, Sean Smith, Mike A Nalls, Jacob Marcus, Andrew B Singleton, David J Stone

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

CAPN1 基因缺陷导致小鼠和人类小脑发育和小脑共济失调发生改变

Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

α-突触核蛋白基因座的 6.4 Mb 重复导致额颞叶痴呆和帕金森病:表型-基因型相关性

Eleanna Kara, Aoife P Kiely, Christos Proukakis, Nicola Giffin, Seth Love, Jason Hehir, Khadija Rantell, Amelie Pandraud, Dena G Hernandez, Elizabeth Nacheva, Alan M Pittman, Mike A Nalls, Andrew B Singleton, Tamas Revesz, Kailash P Bhatia, Niall Quinn, John Hardy, Janice L Holton, Henry Houlden1