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

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

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

ALS-PFN1的表达会损害iPSC衍生小胶质细胞中的囊泡降解

Salome Funes # ,Jonathan Jung # ,Del Hayden Gadd ,Michelle Mosqueda ,Jianjun Zhong ,Shankaracharya ,Matthew Unger ,Karly Stallworth ,Debra Cameron ,Melissa S Rotunno ,Pepper Dawes ,Megan Fowler-Magaw ,Pamela J Keagle ,Justin A McDonough ,Sivakumar Boopathy ,Miguel Sena-Esteves ,Jeffrey A Nickerson ,Cathleen Lutz ,William C Skarnes ,Elaine T Lim ,Dorothy P Schafer ,Francesca Massi ,John E Landers ,Daryl A Bosco

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia

ALS-PFN1 的表达会损害 iPSC 衍生的小胶质细胞中的囊泡降解

Salome Funes, Del Hayden Gadd, Michelle Mosqueda, Jianjun Zhong, Jonathan Jung, Shankaracharya, Matthew Unger, Debra Cameron, Pepper Dawes, Pamela J Keagle, Justin A McDonough, Sivakumar Boopathy, Miguel Sena-Esteves, Cathleen Lutz, William C Skarnes, Elaine T Lim, Dorothy P Schafer, Francesca Massi

ATXN2 intermediate expansions in amyotrophic lateral sclerosis

肌萎缩侧索硬化症中的ATXN2中间扩增

Glass, Jonathan D; Dewan, Ramita; Ding, Jinhui; Gibbs, J Raphael; Dalgard, Clifton; Keagle, Pamela J; Shankaracharya; García-Redondo, Alberto; Traynor, Bryan J; Chia, Ruth; Landers, John E

Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk

溶酶体基因变异在调节GBA相关帕金森病风险中的作用

Straniero, Letizia; Rimoldi, Valeria; Monfrini, Edoardo; Bonvegna, Salvatore; Melistaccio, Giada; Lake, Julie; Soldà, Giulia; Aureli, Massimo; Shankaracharya; Keagle, Pamela; Foroud, Tatiana; Landers, John E; Blauwendraat, Cornelis; Zecchinelli, Anna; Cilia, Roberto; Di Fonzo, Alessio; Pezzoli, Gianni; Duga, Stefano; Asselta, Rosanna

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

ALS相关的KIF5A突变会消除自身抑制,导致毒性功能获得。

Desiree M Baron,Adam R Fenton,Sara Saez-Atienzar,Anthony Giampetruzzi,Aparna Sreeram,Shankaracharya,Pamela J Keagle,Victoria R Doocy,Nathan J Smith,Eric W Danielson,Megan Andresano,Mary C McCormack,Jaqueline Garcia,Valérie Bercier,Ludo Van Den Bosch,Jonathan R Brent,Claudia Fallini,Bryan J Traynor,Erika L F Holzbaur,John E Landers

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

额颞叶痴呆和肌萎缩侧索硬化症患者的致病性亨廷顿重复扩增

Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A Hickman, Thor D Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S Sabir, Makayla K Portley, Arianna Tucci, Kristina Ibáñez, F N U Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria L Waldo, Per M Johansson, Christer

Ly6a Differential Expression in Blood-Brain Barrier Is Responsible for Strain Specific Central Nervous System Transduction Profile of AAV-PHP.B

血脑屏障中 Ly6a 的差异表达是 AAV-PHP.B 菌株特异性中枢神经系统转导谱的原因

Ana Rita Batista, Oliver D King, Christopher P Reardon, Crystal Davis, Shankaracharya, Vivek Philip, Heather Gray-Edwards, Neil Aronin, Cathleen Lutz, John Landers, Miguel Sena-Esteves

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

全基因组分析鉴定出KIF5A是一种新的ALS基因

Nicolas, Aude; Kenna, Kevin P; Renton, Alan E; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A; Kenna, Brendan J; Nalls, Mike A; Keagle, Pamela; Rivera, Alberto M; van Rheenen, Wouter; Murphy, Natalie A; van Vugt, Joke J F A; Geiger, Joshua T; Van der Spek, Rick A; Pliner, Hannah A; Shankaracharya; Smith, Bradley N; Marangi, Giuseppe; Topp, Simon D; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D; Kenna, Aoife; Mora, Gabriele; Calvo, Andrea; Mazzini, Letizia; Riva, Nilo; Mandrioli, Jessica; Caponnetto, Claudia; Battistini, Stefania; Volanti, Paolo; La Bella, Vincenzo; Conforti, Francesca L; Borghero, Giuseppe; Messina, Sonia; Simone, Isabella L; Trojsi, Francesca; Salvi, Fabrizio; Logullo, Francesco O; D'Alfonso, Sandra; Corrado, Lucia; Capasso, Margherita; Ferrucci, Luigi; Moreno, Cristiane de Araujo Martins; Kamalakaran, Sitharthan; Goldstein, David B; Gitler, Aaron D; Harris, Tim; Myers, Richard M; Phatnani, Hemali; Musunuri, Rajeeva Lochan; Evani, Uday Shankar; Abhyankar, Avinash; Zody, Michael C; Kaye, Julia; Finkbeiner, Steven; Wyman, Stacia K; LeNail, Alex; Lima, Leandro; Fraenkel, Ernest; Svendsen, Clive N; Thompson, Leslie M; Van Eyk, Jennifer E; Berry, James D; Miller, Timothy M; Kolb, Stephen J; Cudkowicz, Merit; Baxi, Emily; Benatar, Michael; Taylor, J Paul; Rampersaud, Evadnie; Wu, Gang; Wuu, Joanne; Lauria, Giuseppe; Verde, Federico; Fogh, Isabella; Tiloca, Cinzia; Comi, Giacomo P; Sorarù, Gianni; Cereda, Cristina; Corcia, Philippe; Laaksovirta, Hannu; Myllykangas, Liisa; Jansson, Lilja; Valori, Miko; Ealing, John; Hamdalla, Hisham; Rollinson, Sara; Pickering-Brown, Stuart; Orrell, Richard W; Sidle, Katie C; Malaspina, Andrea; Hardy, John; Singleton, Andrew B; Johnson, Janel O; Arepalli, Sampath; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Al-Sarraj, Safa; King, Andrew; Troakes, Claire; Vance, Caroline; de Belleroche, Jacqueline; Baas, Frank; Ten Asbroek, Anneloor L M A; Muñoz-Blanco, José Luis; Hernandez, Dena G; Ding, Jinhui; Gibbs, J Raphael; Scholz, Sonja W; Floeter, Mary Kay; Campbell, Roy H; Landi, Francesco; Bowser, Robert; Pulst, Stefan M; Ravits, John M; MacGowan, Daniel J L; Kirby, Janine; Pioro, Erik P; Pamphlett, Roger; Broach, James; Gerhard, Glenn; Dunckley, Travis L; Brady, Christopher B; Kowall, Neil W; Troncoso, Juan C; Le Ber, Isabelle; Mouzat, Kevin; Lumbroso, Serge; Heiman-Patterson, Terry D; Kamel, Freya; Van Den Bosch, Ludo; Baloh, Robert H; Strom, Tim M; Meitinger, Thomas; Shatunov, Aleksey; Van Eijk, Kristel R; de Carvalho, Mamede; Kooyman, Maarten; Middelkoop, Bas; Moisse, Matthieu; McLaughlin, Russell L; Van Es, Michael A; Weber, Markus; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Morrison, Karen E; Basak, A Nazli; Mora, Jesús S; Drory, Vivian E; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Hardiman, Orla; Williams, Kelly L; Fifita, Jennifer A; Nicholson, Garth A; Blair, Ian P; Rouleau, Guy A; Esteban-Pérez, Jesús; García-Redondo, Alberto; Al-Chalabi, Ammar; Rogaeva, Ekaterina; Zinman, Lorne; Ostrow, Lyle W; Maragakis, Nicholas J; Rothstein, Jeffrey D; Simmons, Zachary; Cooper-Knock, Johnathan; Brice, Alexis; Goutman, Stephen A; Feldman, Eva L; Gibson, Summer B; Taroni, Franco; Ratti, Antonia; Gellera, Cinzia; Van Damme, Philip; Robberecht, Wim; Fratta, Pietro; Sabatelli, Mario; Lunetta, Christian; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Camu, William; Trojanowski, John Q; Van Deerlin, Vivianna M; Brown, Robert H Jr; van den Berg, Leonard H; Veldink, Jan H; Harms, Matthew B; Glass, Jonathan D; Stone, David J; Tienari, Pentti; Silani, Vincenzo; Chiò, Adriano; Shaw, Christopher E; Traynor, Bryan J; Landers, John E

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

一种用于分析家系序列数据的连锁分析和罕见变异关联分析的统一检验方法

Hu, Hao; Roach, Jared C; Coon, Hilary; Guthery, Stephen L; Voelkerding, Karl V; Margraf, Rebecca L; Durtschi, Jacob D; Tavtigian, Sean V; Shankaracharya; Wu, Wilfred; Scheet, Paul; Wang, Shuoguo; Xing, Jinchuan; Glusman, Gustavo; Hubley, Robert; Li, Hong; Garg, Vidu; Moore, Barry; Hood, Leroy; Galas, David J; Srivastava, Deepak; Reese, Martin G; Jorde, Lynn B; Yandell, Mark; Huff, Chad D