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

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

Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

帕金森病中LRRK2功能丧失变异的频率

Blauwendraat, Cornelis; Reed, Xylena; Kia, Demis A; Gan-Or, Ziv; Lesage, Suzanne; Pihlstrøm, Lasse; Guerreiro, Rita; Gibbs, J Raphael; Sabir, Marya; Ahmed, Sarah; Ding, Jinhui; Alcalay, Roy N; Hassin-Baer, Sharon; Pittman, Alan M; Brooks, Janet; Edsall, Connor; Hernandez, Dena G; Chung, Sun Ju; Goldwurm, Stefano; Toft, Mathias; Schulte, Claudia; Bras, Jose; Wood, Nicholas W; Brice, Alexis; Morris, Huw R; Scholz, Sonja W; Nalls, Mike A; Singleton, Andrew B; Cookson, Mark R

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1.

LRRK2 变体 E193K 通过改变 LRRK2 与 DRP1 的结合来阻止 MPP+ 处理引起的线粒体分裂

Perez Carrion Maria, Pischedda Francesca, Biosa Alice, Russo Isabella, Straniero Letizia, Civiero Laura, Guida Marianna, Gloeckner Christian J, Ticozzi Nicola, Tiloca Cinzia, Mariani Claudio, Pezzoli Gianni, Duga Stefano, Pichler Irene, Pan Lifeng, Landers John E, Greggio Elisa, Hess Michael W, Goldwurm Stefano, Piccoli Giovanni

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

尚无充分证据表明SNCA His50Gln (H50Q)在帕金森病中具有致病性

Blauwendraat, Cornelis; Kia, Demis A; Pihlstrøm, Lasse; Gan-Or, Ziv; Lesage, Suzanne; Gibbs, J Raphael; Ding, Jinhui; Alcalay, Roy N; Hassin-Baer, Sharon; Pittman, Alan M; Brooks, Janet; Edsall, Connor; Chung, Sun Ju; Goldwurm, Stefano; Toft, Mathias; Schulte, Claudia; Hernandez, Dena; Singleton, Andrew B; Nalls, Mike A; Brice, Alexis; Scholz, Sonja W; Wood, Nicholas W

A genome-wide association study in multiple system atrophy

多系统萎缩症的全基因组关联研究

Sailer, Anna; Scholz, Sonja W; Nalls, Michael A; Schulte, Claudia; Federoff, Monica; Price, T Ryan; Lees, Andrew; Ross, Owen A; Dickson, Dennis W; Mok, Kin; Mencacci, Niccolo E; Schottlaender, Lucia; Chelban, Viorica; Ling, Helen; O'Sullivan, Sean S; Wood, Nicholas W; Traynor, Bryan J; Ferrucci, Luigi; Federoff, Howard J; Mhyre, Timothy R; Morris, Huw R; Deuschl, Günther; Quinn, Niall; Widner, Hakan; Albanese, Alberto; Infante, Jon; Bhatia, Kailash P; Poewe, Werner; Oertel, Wolfgang; Höglinger, Günter U; Wüllner, Ullrich; Goldwurm, Stefano; Pellecchia, Maria Teresa; Ferreira, Joaquim; Tolosa, Eduardo; Bloem, Bastiaan R; Rascol, Olivier; Meissner, Wassilios G; Hardy, John A; Revesz, Tamas; Holton, Janice L; Gasser, Thomas; Wenning, Gregor K; Singleton, Andrew B; Houlden, Henry

Creation of a library of induced pluripotent stem cells from Parkinsonian patients

从帕金森病患者中建立诱导多能干细胞库

Holmqvist, Staffan; Lehtonen, Šárka; Chumarina, Margarita; Puttonen, Katja A; Azevedo, Carla; Lebedeva, Olga; Ruponen, Marika; Oksanen, Minna; Djelloul, Mehdi; Collin, Anna; Goldwurm, Stefano; Meyer, Morten; Lagarkova, Maria; Kiselev, Sergei; Koistinaho, Jari; Roybon, Laurent

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

基因生物样本库与患者组织之间的联盟:基因生物样本库远程募捐网络的经验

Baldo, Chiara; Casareto, Lorena; Renieri, Alessandra; Merla, Giuseppe; Garavaglia, Barbara; Goldwurm, Stefano; Pegoraro, Elena; Moggio, Maurizio; Mora, Marina; Politano, Luisa; Sangiorgi, Luca; Mazzotti, Raffaella; Viotti, Valeria; Meloni, Ilaria; Pellico, Maria Teresa; Barzaghi, Chiara; Wang, Chiuhui Mary; Monaco, Lucia; Filocamo, Mirella

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

帕金森病中多聚谷氨酰胺重复序列扩增的大规模评估

Wang, Lisa; Aasly, Jan O; Annesi, Grazia; Bardien, Soraya; Bozi, Maria; Brice, Alexis; Carr, Jonathan; Chung, Sun J; Clarke, Carl; Crosiers, David; Deutschländer, Angela; Eckstein, Gertrud; Farrer, Matthew J; Goldwurm, Stefano; Garraux, Gaetan; Hadjigeorgiou, Georgios M; Hicks, Andrew A; Hattori, Nobutaka; Klein, Christine; Jeon, Beom; Kim, Yun J; Lesage, Suzanne; Lin, Juei-Jueng; Lynch, Timothy; Lichtner, Peter; Lang, Anthony E; Mok, Vincent; Jasinska-Myga, Barbara; Mellick, George D; Morrison, Karen E; Opala, Grzegorz; Pihlstrøm, Lasse; Pramstaller, Peter P; Park, Sung S; Quattrone, Aldo; Rogaeva, Ekaterina; Ross, Owen A; Stefanis, Leonidas; Stockton, Joanne D; Silburn, Peter A; Theuns, Jessie; Tan, Eng K; Tomiyama, Hiroyuki; Toft, Mathias; Van Broeckhoven, Christine; Uitti, Ryan J; Wirdefeldt, Karin; Wszolek, Zbigniew; Xiromerisiou, Georgia; Yueh, Kuo-Chu; Zhao, Yi; Gasser, Thomas; Maraganore, Demetrius M; Krüger, Rejko; Sharma, Manu

Alpha-Synuclein Expression in the Oligodendrocyte Lineage: an In Vitro and In Vivo Study Using Rodent and Human Models

α-突触核蛋白在少突胶质细胞谱系中的表达:一项利用啮齿动物和人类模型进行的体外和体内研究

Djelloul, Mehdi; Holmqvist, Staffan; Boza-Serrano, Antonio; Azevedo, Carla; Yeung, Maggie S; Goldwurm, Stefano; Frisén, Jonas; Deierborg, Tomas; Roybon, Laurent

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

欧洲生物银行网络:十年罕见病跨国合作生物样本库实践经验

Mora, Marina; Angelini, Corrado; Bignami, Fabrizia; Bodin, Anne-Mary; Crimi, Marco; Di Donato, Jeanne-Hélène; Felice, Alex; Jaeger, Cécile; Karcagi, Veronika; LeCam, Yann; Lynn, Stephen; Meznaric, Marija; Moggio, Maurizio; Monaco, Lucia; Politano, Luisa; de la Paz, Manuel Posada; Saker, Safaa; Schneiderat, Peter; Ensini, Monica; Garavaglia, Barbara; Gurwitz, David; Johnson, Diana; Muntoni, Francesco; Puymirat, Jack; Reza, Mojgan; Voit, Thomas; Baldo, Chiara; Bricarelli, Franca Dagna; Goldwurm, Stefano; Merla, Giuseppe; Pegoraro, Elena; Renieri, Alessandra; Zatloukal, Kurt; Filocamo, Mirella; Lochmüller, Hanns