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

Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3

脊髓小脑性共济失调1型和3型进展和转化的预测模型

Petit, Emilien; Coarelli, Giulia; Morgan, David; Cunha, Paulina; Hurmic, Hortense; Faber, Jennifer; Grobe-Einsler, Marcus; Rezende, Thiago; Kuo, Sheng-Han; Wilmot, George R; Rosenthal, Liana S; Schmahmann, Jeremy D; Yacoubian, Talene A; Perlman, Susan L; Geschwind, Michael D; Gomez, Christopher M; Hawkins, Trevor; Subramony, S H; Shakkottai, Vikram G; Bushara, Khalaf O; Zesiewicz, Theresa A; Pulst, Stefan M; Park, Young Woo; Lenglet, Christophe; Klockgether, Thomas; Paulson, Henry L; Durr, Alexandra; Öz, Gülin; Ashizawa, Tetsuo; Tezenas du Montcel, Sophie

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

MT-ATP6 9035T>C Variant Causes Ataxia With Azoospermia and Apparent Anticipation in a Four-generation Kindred

MT-ATP6 9035T>C 变异导致四代家族成员出现共济失调伴无精子症和表观早现现象

Xiao, Changrui; Zhu, David; Pryor, Jon; Frutiger, Sally A; Clark, H Brent; Casey, Hannah L; Bower, Matthew; Yu, Guo-Yun; Du, Xiaofei; Toro, Camilo; Gomez, Christopher M

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia

外周血弗拉塔辛水平决定弗里德赖希共济失调的长期临床进展。

Rummey, Christian; Blair, Ian A; Mesaros, Clementina; Rojsajjakul, Teerapat; Dong, Yina; Wilmot, George; Zesiewicz, Theresa; Mathews, Kathy; Hoyle, Joseph C; Seeberger, Lauren; Corben, Louise A; Delatycki, Martin Bruce; Finkel, Richard S; Roxburgh, Richard H; Duquette, Antoine; Yoon, Grace; Gomez, Christopher M; Subramony, S H; Perlman, Susan; Mccormack, Shana; Lynch, David R

Clinic vs. daily life gait characteristics in patients with spinocerebellar ataxia

脊髓小脑性共济失调患者诊室步态与日常生活步态特征的比较

Shah, Vrutangkumar V; Muzyka, Daniel; Jagodinsky, Adam; Casey, Hannah; McNames, James; El-Gohary, Mahmoud; Sowalsky, Kristen; Safarpour, Delaram; Carlson-Kuhta, Patricia; Horak, Fay B; Gomez, Christopher M

Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures

弗里德赖希共济失调患者的步态特征:日常生活与临床测量结果的比较

Casey, Hannah L; Shah, Vrutangkumar V; Muzyka, Daniel; McNames, James; El-Gohary, Mahmoud; Sowalsky, Kristen; Safarpour, Delaram; Carlson-Kuhta, Patricia; Rummey, Christian; Horak, Fay B; Gomez, Christopher M

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

Longitudinal Changes in Patient- and Clinical-Reported Outcomes in Early Spinocerebellar Ataxia Types 1, 2, 3, and 6 from the IDEA Study

IDEA研究中早期脊髓小脑性共济失调1型、2型、3型和6型患者报告结局和临床报告结局的纵向变化

Rawlings, Andreea M; Chuang, Rosalind S; Schmahmann, Jeremy D; Perlman, Susan L; Rosenthal, Liana S; Safarpour, Delaram; Casey, Hannah; Horak, Fay B; Gomez, Christopher M

Calcium channel-coupled transcription factors facilitate direct nuclear signaling.

钙通道偶联转录因子促进直接的核信号传导

Rao Eshaan R, Thaxton Tyler, Gama Eric, Godfrey Jack, Wei Cenfu, Lin Qiaoshan, Li Yan, Pastor Daniel Parviz Hejazi, Hansel Christian, Du Xiaofei, Gomez Christopher M

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

美国大型脊髓小脑性共济失调(SCA27B)队列的临床、放射学和病理学特征

Abou Chaar, Widad; Eranki, Anirudh N; Stevens, Hannah A; Watson, Sonya L; Wong, Darice Y; Avila, Veronica S; Delfeld, Megan; Gary, Alexander J; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josée; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G; Collins, John; Clark, H Brent; Das, Soma; Fogel, Brent L; Gomez, Christopher M