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Diagnostic work up when suspecting early onset Parkinson disease (EOPD). Recommendations from the MDS EOPD study group 早期发病帕金森病(EOPD)可疑时的诊断评估。MDS EOPD研究组的建议 Mehanna, Raja; Marras, Connie; Fleisher, Jori; Post, Bart; Kumar, Kishore Raj; Noyce, Alastair; Alcalay, Roy; Morris, Huw R.; Hatano, Taku; Salari, Mehri; Smilowska, Katarzyna; Wu, Yih Ru; Zhang, Baorong; Tan, Eng-King; Savica, Rodolfo; EOPD Study Grp 分享 收藏
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LRRK2-associated parkinsonism with and without in vivo evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization LRRK2相关帕金森病伴有及不伴有体内α-突触核蛋白聚集物证据:纵向临床与生物标志物特征 Chahine, Lana M.; Lafontant, David-Erick; Choi, Seung Ho; Iwaki, Hirotaka; Blauwendraat, Cornelis; Singleton, Andrew B.; Brumm, Michael C.; Alcalay, Roy N.; Merchant, Kalpana; Nudelman, Kelly Nicole Holohan; Dagher, Alain; Vo, Andrew; Tao, Qin; Venuto, Charles S.; Kieburtz, Karl; Poston, Kathleen L.; Bressman, Susan; Gonzalez-Latapi, Paulina; Avants, Brian; Coffey, Christopher; Jennings, Danna; Tolosa, Eduardo; Siderowf, Andrew; Marek, Ken; Simuni, Tatyana; Parkinsons Progression Markers Initiative, Kenneth 分享 收藏
Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis Somerville, Emma N.; James, Alva; Beetz, Christian; Schwieger, Robert; Barrel, Gal; Kandaswamy, Krishna K.; Iurascu, Marius I.; Bauer, Peter; Ta, Michael; Iwaki, Hirotaka; Senkevich, Konstantin; Yu, Eric; Alcalay, Roy N.; Gan-Or, Ziv 分享 收藏
The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers Goldstein, Orly; Shani, Shachar; Gana-Weisz, Mali; Elkoshi, Nadav; Casey, Fergal; Sun, Yu H.; Chandratre, Khyati; Cedarbaum, Jesse M.; Blauwendraat, Cornelis; Bar-Shira, Anat; Thaler, Avner; Gurevich, Tanya; Mirelman, Anat; Giladi, Nir; Orr-Urtreger, Avi; Alcalay, Roy N. 分享 收藏
Radiological markers of CSF α-synuclein aggregation in Parkinson's disease patients Droby, Amgad; Yoffe-Vasiliev, Avital; Atias, Daniel; Fraser, Kyle B.; Mabrouk, Omar S.; Omer, Nurit; Bar-Shira, Anat; Gana-Weisz, Mali; Goldstein, Orly; Artzi, Moran; Ben Bashat, Dafna; Alcalay, Roy N.; Orr-Urtreger, Avi; Shirvan, Julia C.; Cedarbaum, Jesse M.; Giladi, Nir; Mirelman, Anat; Thaler, Avner 分享 收藏
Global Perspectives on Returning Genetic Research Results in Parkinson Disease Tan, Ai Huey; Saffie-Awad, Paula; Schuh, Artur F. Schumacher; 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 分享 收藏
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons 帕金森氏病风险基因组织蛋白酶B促进多巴胺能神经元中纤维状 α-突触核蛋白清除,溶酶体功能和葡糖脑苷脂酶活性 Jones-Tabah, Jace; He, Kathy; Karpilovsky, Nathan; Senkevich, Konstantin; Deyab, Ghislaine; Pietrantonio, Isabella; Goiran, Thomas; Cousineau, Yuting; Nikanorova, Daria; Goldsmith, Taylor; del Cid Pellitero, Esther; Chen, Carol X. -Q.; Luo, Wen; You, Zhipeng; Abdian, Narges; Ahmad, Jamil; Ruskey, Jennifer A.; Asayesh, Farnaz; Spiegelman, Dan; Fahn, Stanley; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupre, Nicolas; Miliukhina, Irina; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Greenbaum, Lior; Hassin-Baer, Sharon; Alcalay, Roy N.; Milnerwood, Austen; Durcan, Thomas M.; Gan-Or, Ziv; Fon, Edward A. 分享 收藏
Participant-reported personal utility of genetic testing for Parkinson's disease and interest in clinical trial participation Oas, Hannah; Cook, Lola; Schwantes-An, Tae-Hwi; Walsh, Laurence E.; Wills, Anne-Marie; Mata, Ignacio F.; Nance, Martha A.; Beck, James C.; Naito, Anna; Marder, Karen; Alcalay, Roy N.; Verbrugge, Jennifer 分享 收藏
Levodopa-carbidopa intestinal gel for advanced Parkinson's ' s disease: Impact of LRRK2 and GBA1 mutations Thaler, Avner; Anis, Saar; Ponger, Penina; Fay-Karmon, Tsviya; Livneh, Vered; Faust-Socher, Achinoam; Greenbaum, Lior; Reiner, Johnathan; Hilel, Ariela; Shabtai, Hertzel; Alcalay, Roy N.; Djaldetti, Ruth; Hassin-Baer, Sharon; Ezra, Adi; Mirelman, Anat; Giladi, Nir; Gurevich, Tanya 分享 收藏
Long-Term Dementia Risk in Parkinson Disease Gallagher, Julia; Gochanour, Caroline; Caspell-Garcia, Chelsea; Dobkin, Roseanne D.; Aarsland, Dag; Alcalay, Roy N.; Barrett, Matthew J.; Chahine, Lana; Chen-Plotkin, Alice S.; Coffey, Christopher S.; Dahodwala, Nabila; Eberling, Jamie L.; Espay, Alberto J.; Leverenz, James B.; Litvan, Irene; Mamikonyan, Eugenia; Morley, James; Richard, Irene H.; Rosenthal, Liana; Siderowf, Andrew D.; Simuni, Tatyana; York, Michele K.; Willis, Allison W.; Xie, Sharon X.; Weintraub, Daniel 分享 收藏
A novel super-resolution microscopy platform for cutaneous alpha-synuclein detection in Parkinson's disease 一种用于帕金森病皮肤 α-突触核蛋白检测的新型超分辨率显微镜平台 Sade, Ofir; Fischel, Daphna; Barak-Broner, Noa; Halevi, Shir; Gottfried, Irit; Bar-On, Dana; Sachs, Stefan; Mirelman, Anat; Thaler, Avner; Gour, Aviv; Kestenbaum, Meir; Gana Weisz, Mali; Anis, Saar; Soto, Claudio; Roitman, Melanie Shanie; Shahar, Shimon; Doppler, Kathrin; Sauer, Markus; Giladi, Nir; Lev, Nirit; Alcalay, Roy N.; Hassin-Baer, Sharon; Ashery, Uri 分享 收藏
Effect of GBA1 Mutations and APOE Polymorphisms on Survival and Progression Among Ashkenazi Jews with Dementia with Lewy Bodies Shiner, Tamara; Kave, Gitit; Mirelman, Anat; Regev, Keren; Piura, Yoav; Goldstein, Orly; Weisz, Mali Gana; Bar-Shira, Anat; Gurevich, Tanya; Orr-Urtreger, Avi; Alcalay, Roy N.; Giladi, Nir; Bregman, Noa 分享 收藏
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study Cook, Lola; Verbrugge, Jennifer; Schwantes-An, Tae-Hwi; Schulze, Jeanine; Foroud, Tatiana; Hall, Anne; Marder, Karen S.; Mata, Ignacio F.; Mencacci, Niccolo E.; Nance, Martha A.; Schwarzschild, Michael A.; Simuni, Tanya; Bressman, Susan; Wills, Anne-Marie; Fernandez, Hubert H.; Litvan, Irene; Lyons, Kelly E.; Shill, Holly A.; Singer, Carlos; Tropea, Thomas F.; Arroyave, Nora Vanegas; Carbonell, Janfreisy; Vicioso, Rossy Cruz; Katus, Linn; Quinn, Joseph F.; Hodges, Priscila D.; Meng, Yan; Strom, Samuel P.; Blauwendraat, Cornelis; Lohmann, Katja; Casaceli, Cynthia; Rao, Shilpa C.; Galvelis, Kamalini Ghosh; Naito, Anna; Beck, James C.; Alcalay, Roy N. 分享 收藏
White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD) Omer, Nurit; Droby, Amgad; Silbak, Rawan; Trablus, Noa; David, Aya Bar; Shiner, Tamara; Alcalay, Yifat; Alcalay, Roy; Nathan, Talya; Thaler, Avner; Mirelman, Anat; Weisz, Mali Gana; Goldstein, Orly; Glinka, Tal; Orr-Urtreger, Avi; Giladi, Nir; Bregman, Noa 分享 收藏