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

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases

新出现的变异、独特的表型和转录组特征:COASY 相关疾病的综合研究

Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L Morrison, Patricia G Wheeler, Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Eulalia Turón-Viñas, Clement Prouteau, Magalie Barth, Susan J Hayflick, Daniele Ghezzi, Valeria Tiranti

Open-Label Allopregnanolone Treatment of Men with Fragile X-Associated Tremor/Ataxia Syndrome

开放标签别孕烯醇酮治疗脆性X染色体相关震颤/共济失调综合征男性患者

Wang, J Y; Trivedi, A M; Carrillo, N R; Yang, J; Schneider, A; Giulivi, C; Adams, P; Tassone, F; Kim, K; Rivera, S M; Lubarr, N; Wu, C-Y; Irwin, R W; Brinton, R D; Olichney, J M; Rogawski, M A; Hagerman, R J

DYT1 dystonia increases risk taking in humans

DYT1肌张力障碍会增加人类的冒险行为。

Arkadir, David; Radulescu, Angela; Raymond, Deborah; Lubarr, Naomi; Bressman, Susan B; Mazzoni, Pietro; Niv, Yael

Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations

阿什肯纳兹犹太人中携带和不携带LRRK2 G2019S突变的帕金森病表型

Alcalay, Roy N; Mirelman, Anat; Saunders-Pullman, Rachel; Tang, Ming-X; Mejia Santana, Helen; Raymond, Deborah; Roos, Ernest; Orbe-Reilly, Martha; Gurevich, Tanya; Bar Shira, Anat; Gana Weisz, Mali; Yasinovsky, Kira; Zalis, Maayan; Thaler, Avner; Deik, Andres; Barrett, Matthew James; Cabassa, Jose; Groves, Mark; Hunt, Ann L; Lubarr, Naomi; San Luciano, Marta; Miravite, Joan; Palmese, Christina; Sachdev, Rivka; Sarva, Harini; Severt, Lawrence; Shanker, Vicki; Swan, Matthew Carrington; Soto-Valencia, Jeannie; Johannes, Brooke; Ortega, Robert; Fahn, Stanley; Cote, Lucien; Waters, Cheryl; Mazzoni, Pietro; Ford, Blair; Louis, Elan; Levy, Oren; Rosado, Llency; Ruiz, Diana; Dorovski, Tsvyatko; Pauciulo, Michael; Nichols, William; Orr-Urtreger, Avi; Ozelius, Laurie; Clark, Lorraine; Giladi, Nir; Bressman, Susan; Marder, Karen S

Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study

DYT6肌张力障碍患者黑质高回声:一项初步研究

Saunders-Pullman, Rachel; Stanley, Kaili; Brüggemann, Norbert; Raymond, Deborah; San Luciano, Marta; Wang, Cuiling; Klein, Christine; Lubarr, Naomi; Ozelius, Laurie; Bressman, Susan B; Hagenah, Johann