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

Suicidal Ideation in Spinocerebellar Ataxia

脊髓小脑性共济失调患者的自杀意念

Peppel, Levi; Lai, Ruo-Yah; Rummey, Christian; Opal, Puneet; Schmahmann, Jeremy D; Gomez, Christopher M; Paulson, Henry; Zesiewicz, Theresa A; Perlman, Susan; Wilmot, George; Ying, Sarah H; Onyike, Chiadi U; Bushara, Khalaf O; Geschwind, Michael D; Figueroa, Karla P; Pulst, Stefan M; Subramony, Sub H; Duquette, Antoine; Ashizawa, Tetsuo; Hamedani, Ali G; Davis, Marie Y; Srinivasan, Sharan R; Burns, Matthew R; Amokrane, Nadia; Moore, Lauren R; Shakkottai, Vikram G; Rosenthal, Liana S; Kuo, Sheng-Han; Lin, Chi-Ying R

The Natural History Study and Biomarker Collection of the Clinical Research Consortium for the Study of Cerebellar Ataxia (CRC-SCA)

小脑共济失调临床研究联盟(CRC-SCA)的自然史研究和生物标志物收集

Lin, Yicheng; Amokrane, Nadia; Worley, Sandie; Moore, Lauren R; Rosen, Andrew; Crespo, Laura P; Trace, Kelsey; Ashizawa, Tetsuo; Billnitzer, Andrew; Perlman, Susan; Fisher, Aaron; Bushara, Khalaf; Geschwind, Michael D; Dietiker, Cameron; Gomez, Christopher M; Padmanaban, Mahesh; Opal, Puneet; Akhtar, Rizwan S; Paulson, Henry; Srinivasan, Sharan; Ferng, Amy; Ferrari, Frank; Onyike, Chiadi U; Fishman, Ann; Ying, Sarah; Paul, Ashley; Schmahmann, Jeremy D; Stephen, Christopher D; Gupta, Anoopum; Lin, Chih-Chun; Subramony, S H; Burns, Matthew; Wilmot, George; Duquette, Antoine; Zesiewicz, Theresa; Davis, Marie Y; Hamedani, Ali G; Vizcarra, Joaquin A; Pulst, Stefan M; Primeaux, Sharon; Rummey, Christian; Öz, Gülin; Shakkottai, Vikram G; Rosenthal, Liana S; Kuo, Sheng-Han

Hereditary spastic paraplegia with thin corpus callosum and SPG11 mutation: A neuropathological evaluation.

胼胝体变薄伴 SPG11 基因突变的遗传性痉挛性截瘫:神经病理学评估

Scherpelz Kathryn P, Yoda Rebecca A, Jayadev Suman, Davis Marie Y, Hincks Joshua C, Liachko Nicole F, Bragg Robert M, Cochoit Alexa, MacDonald Christine L, Keene C Dirk, Bird Thomas D, Latimer Caitlin S

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias

疲劳会影响脊髓小脑性共济失调患者的生活质量

Lai, Ruo-Yah; Rummey, Christian; Amlang, Christian J; Lin, Chi-Ying R; Chen, Tiffany X; Perlman, Susan; Wilmot, George; Gomez, Christopher M; Schmahmann, Jeremy D; Paulson, Henry; Ying, Sarah H; Onyike, Chiadi U; Zesiewicz, Theresa A; Bushara, Khalaf O; Geschwind, Michael D; Figueroa, Karla P; Pulst, Stefan M; Subramony, Sub H; Burns, Matthew R; Opal, Puneet; Duquette, Antoine; Ashizawa, Tetsuo; Hamedani, Ali G; Davis, Marie Y; Srinivasan, Sharan R; Moore, Lauren R; Shakkottai, Vikram G; Rosenthal, Liana S; Kuo, Sheng-Han

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

ZFYVE26相关遗传性痉挛性截瘫的临床和分子谱:SPG15

Saffari, Afshin; Kellner, Melanie; Jordan, Catherine; Rosengarten, Helena; Mo, Alisa; Zhang, Bo; Strelko, Oleksandr; Neuser, Sonja; Davis, Marie Y; Yoshikura, Nobuaki; Futamura, Naonobu; Takeuchi, Tomoya; Nabatame, Shin; Ishiura, Hiroyuki; Tsuji, Shoji; Aldeen, Huda Shujaa; Cali, Elisa; Rocca, Clarissa; Houlden, Henry; Efthymiou, Stephanie; Assmann, Birgit; Yoon, Grace; Trombetta, Bianca A; Kivisäkk, Pia; Eichler, Florian; Nan, Haitian; Takiyama, Yoshihisa; Tessa, Alessandra; Santorelli, Filippo M; Sahin, Mustafa; Blackstone, Craig; Yang, Edward; Schüle, Rebecca; Ebrahimi-Fakhari, Darius

Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia

ADCY5相关运动障碍中,Tau蛋白过度磷酸化,腺苷酸环化酶5 (ADCY5) 免疫反应性增强,但无神经元丢失。

Chen, Dong-Hui; Latimer, Caitlin S; Spencer, Min; Karna, Prasanthi; Gonzalez-Cuyar, Luis F; Davis, Marie Y; Keene, C Dirk; Bird, Thomas D; Raskind, Wendy H

Diagnostic Validation for Participants in the Washington State Parkinson Disease Registry

华盛顿州帕金森病登记参与者的诊断验证

Kim, Hojoong M; Leverenz, James B; Burdick, Daniel J; Srivatsal, Sindhu; Pate, Jennifer; Hu, Shu-Ching; Millard, Steven P; Davis, Marie Y; Samii, Ali; Zabetian, Cyrus P

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M)

患有 FTD 且 MAPT (V337M) 基因突变的家族中,病程异常长且外显率延迟。

Domoto-Reilly, Kimiko; Davis, Marie Y; Keene, C Dirk; Bird, Thomas D

Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease

GBA基因突变和E326K多态性与帕金森病运动和认知功能进展的关联

Davis, Marie Y; Johnson, Catherine O; Leverenz, James B; Weintraub, Daniel; Trojanowski, John Q; Chen-Plotkin, Alice; Van Deerlin, Vivianna M; Quinn, Joseph F; Chung, Kathryn A; Peterson-Hiller, Amie L; Rosenthal, Liana S; Dawson, Ted M; Albert, Marilyn S; Goldman, Jennifer G; Stebbins, Glenn T; Bernard, Bryan; Wszolek, Zbigniew K; Ross, Owen A; Dickson, Dennis W; Eidelberg, David; Mattis, Paul J; Niethammer, Martin; Yearout, Dora; Hu, Shu-Ching; Cholerton, Brenna A; Smith, Megan; Mata, Ignacio F; Montine, Thomas J; Edwards, Karen L; Zabetian, Cyrus P

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot

LRRK2 p.R1441S 的发现,即帕金森病的一种新突变,增加了突变热点的复杂性。

Mata, Ignacio F; Davis, Marie Y; Lopez, Alexis N; Dorschner, Michael O; Martinez, Erica; Yearout, Dora; Cholerton, Brenna A; Hu, Shu-Ching; Edwards, Karen L; Bird, Thomas D; Zabetian, Cyrus P