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

Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

MDSGene 更新了关于帕金森病中 LRRK2 变异的临床和遗传谱的综述

Krüger, Clara; Lim, Shen-Yang; Buhrmann, Alissa; Fahrig, Fenja L; Gabbert, Carolin; Bahr, Natascha; Madoev, Harutyun; Marras, Connie; Klein, Christine; Lohmann, Katja

Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches

揭开遗传性共济失调的全球图景:流行病学和基因检测方法

Rossi, Malco; Stephen, Christopher D; Damásio, Joana; Pedroso, José Luiz; Kuo, Sheng-Han; Lin, Chi-Ying R; Ojo, Oluwadamilola; El-Jaafary, Shaimaa; Lee, Woong-Woo; Madoev, Harutyun; Barsottini, Orlando G P; Srivastava, Achal Kumar; Klein, Christine; van de Warrenburg, Bart P

Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review

GBA1变异体的分类和基因型-表型关系:MDSGene系统评价

Rossi, Malco; Schaake, Susen; Usnich, Tatiana; Boehm, Josephine; Steffen, Nina; Schell, Nathalie; Krüger, Clara; Gül-Demirkale, Tuğçe; Bahr, Natascha; Kleinz, Teresa; Madoev, Harutyun; Laabs, Björn-Hergen; Gan-Or, Ziv; Alcalay, Roy N; Lohmann, Katja; Klein, Christine

Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale

团队科学方法在全球范围内揭示单基因帕金森病的奥秘

Junker, Johanna; Lange, Lara M; Vollstedt, Eva-Juliane; Roopnarain, Karisha; Doquenia, Maria Leila M; Annuar, Azlina Ahmad; Avenali, Micol; Bardien, Soraya; Bahr, Natascha; Ellis, Melina; Galandra, Caterina; Gasser, Thomas; Heutink, Peter; Illarionova, Anastasia; Kanana, Yuliia; Keller Sarmiento, Ignacio J; Kumar, Kishore R; Lim, Shen-Yang; Madoev, Harutyun; Mata, Ignacio F; Mencacci, Niccolò E; Nalls, Mike A; Padmanabhan, Shalini; Shambetova, Cholpon; Solle, J C; Tan, Ai-Huey; Trinh, Joanne; Valente, Enza Maria; Singleton, Andrew; Blauwendraat, Cornelis; Lohmann, Katja; Fang, Zih-Hua; Klein, Christine

Global Perspectives on Returning Genetic Research Results in Parkinson Disease

全球视角下的帕金森病基因研究结果反馈

Tan, Ai Huey; Saffie-Awad, Paula; Schumacher Schuh, Artur F; Lim, Shen-Yang; Madoev, Harutyun; Ahmad-Annuar, Azlina; Solle, J; Wegel, Claire E; Doquenia, Maria Leila; Dey, Sumit; Perinan, Maria Teresa; Makarious, Mary B; Fiske, Brian; Morris, Huw R; Noyce, Alastair J; Alcalay, Roy N; Kumar, Kishore Raj; Klein, Christine

Understanding monogenic Parkinson's disease at a global scale

从全球层面了解单基因帕金森病

Junker, Johanna; Lange, Lara M; Vollstedt, Eva-Juliane; Roopnarain, Karisha; Doquenia, Maria Leila M; Annuar, Azlina Ahmad; Avenali, Micol; Bardien, Soraya; Bahr, Natascha; Ellis, Melina; Galandra, Caterina; Gasser, Thomas; Heutink, Peter; Illarionova, Anastasia; Kanana, Yuliia; Keller Sarmiento, Ignacio J; Kumar, Kishore R; Lim, Shen-Yang; Madoev, Harutyun; Mata, Ignacio F; Mencacci, Niccolò E; Nalls, Mike A; Padmanabhan, Shalini; Shambetova, Cholpon; Solle, J; Tan, Ai-Huey; Trinh, Joanne; Valente, Enza Maria; Singleton, Andrew; Blauwendraat, Cornelis; Lohmann, Katja; Fang, Zih-Hua; Klein, Christine

Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

作者更正:阐明全球帕金森病遗传学计划 (GP2) 中遗传性帕金森病的致病基因变异

Lange, Lara M; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine

Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

全球帕金森病遗传学计划 (GP2) 中遗传性帕金森病致病基因变异的阐明

Lange, Lara M; Avenali, Micol; Ellis, Melina; Illarionova, Anastasia; Keller Sarmiento, Ignacio J; Tan, Ai-Huey; Madoev, Harutyun; Galandra, Caterina; Junker, Johanna; Roopnarain, Karisha; Solle, Justin; Wegel, Claire; Fang, Zih-Hua; Heutink, Peter; Kumar, Kishore R; Lim, Shen-Yang; Valente, Enza Maria; Nalls, Mike; Blauwendraat, Cornelis; Singleton, Andrew; Mencacci, Niccolo; Lohmann, Katja; Klein, Christine

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project

建立在线资源以促进全球合作和弱势群体参与:MJFF全球遗传帕金森病项目的经验

Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A; Barkhuizen, Melinda; Basak, A Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Carmine Belin, Andrea; Carr, Jonathan; Clarimon, Jordi; Cornejo-Olivas, Mario; Correia Guedes, Leonor; Corvol, Jean-Christophe; Crosiers, David; Damásio, Joana; Das, Parimal; de Carvalho Aguiar, Patricia; De Rosa, Anna; Dorszewska, Jolanta; Ertan, Sibel; Ferese, Rosangela; Ferreira, Joaquim; Gatto, Emilia; Genç, Gençer; Giladi, Nir; Gómez-Garre, Pilar; Hanagasi, Hasmet; Hattori, Nobutaka; Hentati, Faycal; Hoffman-Zacharska, Dorota; Illarioshkin, Sergey N; Jankovic, Joseph; Jesús, Silvia; Kaasinen, Valtteri; Kievit, Anneke; Klivenyi, Peter; Kostic, Vladimir; Koziorowski, Dariusz; Kühn, Andrea A; Lang, Anthony E; Lim, Shen-Yang; Lin, Chin-Hsien; Lohmann, Katja; Markovic, Vladana; Martikainen, Mika Henrik; Mellick, George; Merello, Marcelo; Milanowski, Lukasz; Mir, Pablo; Öztop-Çakmak, Özgür; Pimentel, Márcia Mattos Gonçalves; Pulkes, Teeratorn; Puschmann, Andreas; Rogaeva, Ekaterina; Sammler, Esther M; Skaalum Petersen, Maria; Skorvanek, Matej; Spitz, Mariana; Suchowersky, Oksana; Tan, Ai Huey; Termsarasab, Pichet; Thaler, Avner; Tumas, Vitor; Valente, Enza Maria; van de Warrenburg, Bart; Williams-Gray, Caroline H; Wu, Ruey-Mei; Zhang, Baorong; Zimprich, Alexander; Solle, Justin; Padmanabhan, Shalini; Klein, Christine

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review

非典型帕金森病基因的基因型-表型关系:MDSGene系统评价

Wittke, Christina; Petkovic, Sonja; Dobricic, Valerija; Schaake, Susen; Respondek, Gesine; Weissbach, Anne; Madoev, Harutyun; Trinh, Joanne; Vollstedt, Eva-Juliane; Kuhnke, Neele; Lohmann, Katja; Dulovic Mahlow, Marija; Marras, Connie; König, Inke R; Stamelou, Maria; Bonifati, Vincenzo; Lill, Christina M; Kasten, Meike; Huppertz, Hans-Jürgen; Höglinger, Günter; Klein, Christine