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

Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe

来自中欧邻国的早发性帕金森病患者中PRKN、PINK1和DJ1基因突变的频率

Milanowski, Łukasz M; Lindemann, Jennifer A; Hoffman-Zacharska, Dorota; Soto-Beasley, Alexandra I; Barcikowska, Maria; Boczarska-Jedynak, Magdalena; Deutschlander, Angela; Kłodowska, Gabriela; Dulski, Jarosław; Fedoryshyn, Lyuda; Friedman, Andrzej; Jamrozik, Zygmunt; Janik, Piotr; Karpinsky, Katherine; Koziorowski, Dariusz; Krygowska-Wajs, Anna; Jasińska-Myga, Barbara; Opala, Grzegorz; Potulska-Chromik, Anna; Pulyk, Aleksander; Rektorova, Irena; Sanotsky, Yanosh; Siuda, Joanna; Sławek, Jarosław; Śmiłowska, Katarzyna; Szczechowski, Lech; Rudzińska-Bar, Monika; Walton, Ronald L; Ross, Owen A; Wszolek, Zbigniew K

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

回复:快速眼动睡眠行为障碍中的杂合子PINK1 p.G411S

Puschmann, Andreas; Fiesel, Fabienne C; Caulfield, Thomas R; Hudec, Roman; Ando, Maya; Truban, Dominika; Hou, Xu; Ogaki, Kotaro; Heckman, Michael G; James, Elle D; Swanberg, Maria; Jimenez-Ferrer, Itzia; Hansson, Oskar; Opala, Grzegorz; Siuda, Joanna; Boczarska-Jedynak, Magdalena; Friedman, Andrzej; Koziorowski, Dariusz; Rudzinska-Bar, Monika; Aasly, Jan O; Lynch, Timothy; Mellick, George D; Mohan, Megha; Silburn, Peter A; Sanotsky, Yanosh; Vilariño-Güell, Carles; Farrer, Matthew J; Chen, Li; Dawson, Valina L; Dawson, Ted M; Wszolek, Zbigniew K; Ross, Owen A; Springer, Wolfdieter

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

微管相关蛋白tau变体p.A152T在α-突触核蛋白病风险中的作用

Labbé, Catherine; Ogaki, Kotaro; Lorenzo-Betancor, Oswaldo; Soto-Ortolaza, Alexandra I; Walton, Ronald L; Rayaprolu, Sruti; Fujioka, Shinsuke; Murray, Melissa E; Heckman, Michael G; Puschmann, Andreas; McCarthy, Allan; Lynch, Timothy; Siuda, Joanna; Opala, Grzegorz; Rudzinska, Monika; Krygowska-Wajs, Anna; Barcikowska, Maria; Czyzewski, Krzysztof; Sanotsky, Yanosh; Rektorová, Irena; McLean, Pamela J; Rademakers, Rosa; Ertekin-Taner, Nilüfer; Hassan, Anhar; Ahlskog, J Eric; Boeve, Bradley F; Petersen, Ronald C; Maraganore, Demetrius M; Adler, Charles H; Ferman, Tanis J; Parisi, Joseph E; Graff-Radford, Neill R; Uitti, Ryan J; Wszolek, Zbigniew K; Dickson, Dennis W; Ross, Owen A