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

Single-nucleus and spatial transcriptomic profiling of human temporal cortex and white matter reveals key associations with AD pathology

对人类颞叶皮层和白质进行单核和空间转录组分析,揭示了与阿尔茨海默病病理的关键关联

Gaur, Pallavi; Bryois, Julien; Calini, Daniela; Foo, Lynette C; Hoozemans, Jeroen J M; Yadav, Archana; Malhotra, Dheeraj; Menon, Vilas

Cross-disorder and disease-specific pathways in dementia revealed by single-cell genomics.

单细胞基因组学揭示痴呆症中的跨疾病和疾病特异性通路

Rexach Jessica E, Cheng Yuyan, Chen Lawrence, Polioudakis Damon, Lin Li-Chun, Mitri Vivianne, Elkins Andrew, Han Xia, Yamakawa Mai, Yin Anna, Calini Daniela, Kawaguchi Riki, Ou Jing, Huang Jerry, Williams Christopher, Robinson John, Gaus Stephanie E, Spina Salvatore, Lee Edward B, Grinberg Lea T, Vinters Harry, Trojanowski John Q, Seeley William W, Malhotra Dheeraj, Geschwind Daniel H

Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics

单细胞基因组学揭示痴呆症中疾病特异性选择性易感性和神经免疫通路

Rexach, Jessica E; Cheng, Yuyan; Chen, Lawrence; Polioudakis, Damon; Lin, Li-Chun; Mitri, Vivianne; Elkins, Andrew; Yin, Anna; Calini, Daniela; Kawaguchi, Riki; Ou, Jing; Huang, Jerry; Williams, Christopher; Robinson, John; Gaus, Stephanie E; Spina, Salvatore; Lee, Edward B; Grinberg, Lea T; Vinters, Harry; Trojanowski, John Q; Seeley, William W; Malhotra, Dheeraj; Geschwind, Daniel H

TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms

意大利帕金森病和非典型帕金森综合征患者队列中的TARDBP基因突变

Tiloca, Cinzia; Goldwurm, Stefano; Calcagno, Narghes; Verde, Federico; Peverelli, Silvia; Calini, Daniela; Zecchinelli, Anna Lena; Sangalli, Davide; Ratti, Antonia; Pezzoli, Gianni; Silani, Vincenzo; Ticozzi, Nicola

The role of de novo mutations in the development of amyotrophic lateral sclerosis

新发突变在肌萎缩侧索硬化症发展中的作用

van Doormaal, Perry T C; Ticozzi, Nicola; Weishaupt, Jochen H; Kenna, Kevin; Diekstra, Frank P; Verde, Federico; Andersen, Peter M; Dekker, Annelot M; Tiloca, Cinzia; Marroquin, Nicolai; Overste, Daniel J; Pensato, Viviana; Nürnberg, Peter; Pulit, Sara L; Schellevis, Raymond D; Calini, Daniela; Altmüller, Janine; Francioli, Laurent C; Muller, Bernard; Castellotti, Barbara; Motameny, Susanne; Ratti, Antonia; Wolf, Joachim; Gellera, Cinzia; Ludolph, Albert C; van den Berg, Leonard H; Kubisch, Christian; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Volk, Alexander E

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

NEK1 变异会使人易患肌萎缩侧索硬化症

Kenna, Kevin P; van Doormaal, Perry T C; Dekker, Annelot M; Ticozzi, Nicola; Kenna, Brendan J; Diekstra, Frank P; van Rheenen, Wouter; van Eijk, Kristel R; Jones, Ashley R; Keagle, Pamela; Shatunov, Aleksey; Sproviero, William; Smith, Bradley N; van Es, Michael A; Topp, Simon D; Kenna, Aoife; Miller, Jack W; Fallini, Claudia; Tiloca, Cinzia; McLaughlin, Russell L; Vance, Caroline; Troakes, Claire; Colombrita, Claudia; Mora, Gabriele; Calvo, Andrea; Verde, Federico; Al-Sarraj, Safa; King, Andrew; Calini, Daniela; de Belleroche, Jacqueline; Baas, Frank; van der Kooi, Anneke J; de Visser, Marianne; Ten Asbroek, Anneloor L M A; Sapp, Peter C; McKenna-Yasek, Diane; Polak, Meraida; Asress, Seneshaw; Muñoz-Blanco, José Luis; Strom, Tim M; Meitinger, Thomas; Morrison, Karen E; Lauria, Giuseppe; Williams, Kelly L; Leigh, P Nigel; Nicholson, Garth A; Blair, Ian P; Leblond, Claire S; Dion, Patrick A; Rouleau, Guy A; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; Boylan, Kevin B; Van Blitterswijk, Marka; Rademakers, Rosa; Esteban-Pérez, Jesús; García-Redondo, Alberto; Van Damme, Phillip; Robberecht, Wim; Chio, Adriano; Gellera, Cinzia; Drepper, Carsten; Sendtner, Michael; Ratti, Antonia; Glass, Jonathan D; Mora, Jesús S; Basak, Nazli A; Hardiman, Orla; Ludolph, Albert C; Andersen, Peter M; Weishaupt, Jochen H; Brown, Robert H Jr; Al-Chalabi, Ammar; Silani, Vincenzo; Shaw, Christopher E; van den Berg, Leonard H; Veldink, Jan H; Landers, John E

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

全外显子组罕见变异分析鉴定出与家族性ALS相关的TUBA4A突变。

Smith, Bradley N; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon; Kenna, Kevin P; Scotter, Emma L; Kost, Jason; Keagle, Pamela; Miller, Jack W; Calini, Daniela; Vance, Caroline; Danielson, Eric W; Troakes, Claire; Tiloca, Cinzia; Al-Sarraj, Safa; Lewis, Elizabeth A; King, Andrew; Colombrita, Claudia; Pensato, Viviana; Castellotti, Barbara; de Belleroche, Jacqueline; Baas, Frank; ten Asbroek, Anneloor L M A; Sapp, Peter C; McKenna-Yasek, Diane; McLaughlin, Russell L; Polak, Meraida; Asress, Seneshaw; Esteban-Pérez, Jesús; Muñoz-Blanco, José Luis; Simpson, Michael; van Rheenen, Wouter; Diekstra, Frank P; Lauria, Giuseppe; Duga, Stefano; Corti, Stefania; Cereda, Cristina; Corrado, Lucia; Sorarù, Gianni; Morrison, Karen E; Williams, Kelly L; Nicholson, Garth A; Blair, Ian P; Dion, Patrick A; Leblond, Claire S; Rouleau, Guy A; Hardiman, Orla; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Pall, Hardev; Shaw, Pamela J; Turner, Martin R; Talbot, Kevin; Taroni, Franco; García-Redondo, Alberto; Wu, Zheyang; Glass, Jonathan D; Gellera, Cinzia; Ratti, Antonia; Brown, Robert H Jr; Silani, Vincenzo; Shaw, Christopher E; Landers, John E

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

一项针对C9orf72基因中GGGGCC重复序列扩增的基因检测可靠性的国际盲法研究显示,14个实验室的检测结果存在显著差异。

Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Alessandra; Ratti, Antonia; van der Zee, Julie; Alstermark, Helena; Birve, Anna; Calini, Daniela; Nordin, Angelica; Tradowsky, Daniela C; Just, Walter; Daoud, Hussein; Angerbauer, Sabrina; DeJesus-Hernandez, Mariely; Konno, Takuya; Lloyd-Jani, Anjali; de Carvalho, Mamede; Mouzat, Kevin; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Gitler, Aaron D; Shaw, Christopher E; Rouleau, Guy A; van den Berg, Leonard H; Van Broeckhoven, Christine; Rademakers, Rosa; Andersen, Peter M; Kubisch, Christian

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

全基因组关联荟萃分析发现17q11.2处存在一个与散发性肌萎缩侧索硬化症相关的新位点

Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valentina; Corrado, Lucia; Sorarù, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, Davide; Calini, Daniela; Castellotti, Barbara; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stella; Del Bo, Roberto; Conforti, Francesca L; Siciliano, Gabriele; Inghilleri, Maurizio; Saccà, Francesco; Bongioanni, Paolo; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimiliano; Ferlini, Alessandra; Di Blasio, Anna M; Signorini, Stefano; Shatunov, Aleksey; Jones, Ashley; Shaw, Pamela J; Morrison, Karen E; Farmer, Anne E; Van Damme, Philip; Robberecht, Wim; Chiò, Adriano; Traynor, Bryan J; Sendtner, Michael; Melki, Judith; Meininger, Vincent; Hardiman, Orla; Andersen, Peter M; Leigh, Nigel P; Glass, Jonathan D; Overste, Daniel; Diekstra, Frank P; Veldink, Jan H; van Es, Michael A; Shaw, Christopher E; Weale, Michael E; Lewis, Cathryn M; Williams, Julie; Brown, Robert H; Landers, John E; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P; D'Alfonso, Sandra; van den Berg, Leonard H; Taroni, Franco; Al-Chalabi, Ammar; Powell, John; Silani, Vincenzo

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

散发性肌萎缩侧索硬化症和额颞叶痴呆症中PFN1基因的筛查

Tiloca, Cinzia; Ticozzi, Nicola; Pensato, Viviana; Corrado, Lucia; Del Bo, Roberto; Bertolin, Cinzia; Fenoglio, Chiara; Gagliardi, Stella; Calini, Daniela; Lauria, Giuseppe; Castellotti, Barbara; Bagarotti, Alessandra; Corti, Stefania; Galimberti, Daniela; Cagnin, Annachiara; Gabelli, Carlo; Ranieri, Michela; Ceroni, Mauro; Siciliano, Gabriele; Mazzini, Letizia; Cereda, Cristina; Scarpini, Elio; Sorarù, Gianni; Comi, Giacomo P; D'Alfonso, Sandra; Gellera, Cinzia; Ratti, Antonia; Landers, John E; Silani, Vincenzo