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

LRRK2 G2019S variant is associated with transcriptional changes in Parkinson's disease human myeloid cells under proinflammatory environment.

LRRK2 G2019S 变异与帕金森病人类髓系细胞在促炎环境下的转录变化有关

Navarro Elisa, Efthymiou Anastasia G, Parks Madison, Riboldi Giulietta M, Vialle Ricardo A, Udine Evan, Muller Benjamin Z, Humphrey Jack, Allan Amanda, Argyrou Charlie Charalambos, Lopes Katia de Paiva, Münch Alexandra, Raymond Deborah, Sachdev Rivka, Shanker Vicki L, Miravite Joan, Katsnelson Viktoryia, Leaver Katherine, Frucht Steve, Bressman Susan B, Marcora Edoardo, Saunders-Pullman Rachel, Goate Alison, Raj Towfique

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions

PRRT2基因突变会导致阵发性运动诱发性运动障碍伴婴儿惊厥

Lee, Hsien-Yang; Huang, Yong; Bruneau, Nadine; Roll, Patrice; Roberson, Elisha D O; Hermann, Mark; Quinn, Emily; Maas, James; Edwards, Robert; Ashizawa, Tetsuo; Baykan, Betul; Bhatia, Kailash; Bressman, Susan; Bruno, Michiko K; Brunt, Ewout R; Caraballo, Roberto; Echenne, Bernard; Fejerman, Natalio; Frucht, Steve; Gurnett, Christina A; Hirsch, Edouard; Houlden, Henry; Jankovic, Joseph; Lee, Wei-Ling; Lynch, David R; Mohammed, Shehla; Müller, Ulrich; Nespeca, Mark P; Renner, David; Rochette, Jacques; Rudolf, Gabrielle; Saiki, Shinji; Soong, Bing-Wen; Swoboda, Kathryn J; Tucker, Sam; Wood, Nicholas; Hanna, Michael; Bowcock, Anne M; Szepetowski, Pierre; Fu, Ying-Hui; Ptáček, Louis J