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

Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment

脊髓小脑性共济失调3型脑萎缩分期在临床预后和临床试验筛选中的应用

Baumeister, Hannah; Wegner, Philipp; Ferreira, Mónica; Schaprian, Tamara; França, Marcondes C Jr; Rezende, Thiago Junqueira Ribeiro; Muro Martinez, Alberto Rolim; Jiang, Hong; Chen, Zhao; Weihua, Liao; Grobe-Einsler, Marcus; Koyak, Berkan; Önder, Demet; van de Warrenburg, Bart; van Gaalen, Judith; Durr, Alexandra; Coarelli, Giulia; Synofzik, Matthis; Schöls, Ludger; Giunti, Paola; Garcia-Moreno, Hector; Öz, Gülin; Joers, James; Timmann, Dagmar; Thieme, Andreas G; Jacobi, Heike; de Vries, Jeroen; Barker, Peter; Onyike, Chiadikaobi; Ratai, Eva-Maria; Schmahmann, Jeremy D; Reetz, Kathrin; Infante, Jon; Huebener-Schmid, Jeannette; Kuegler, David; Klockgether, Thomas; Berron, David; Faber, Jennifer

Leveraging machine learning for digital gait analysis in ataxia using sensor-free motion capture

利用机器学习技术,通过无传感器运动捕捉技术对共济失调患者的数字步态进行分析

Wegner, Philipp; Grobe-Einsler, Marcus; Reimer, Lara; Kahl, Fabian; Koyak, Berkan; Elter, Tim; Lange, Alexander; Kimmich, Okka; Soub, Daniel; Hufschmidt, Felix; Bernsen, Sarah; Ferreira, Mónica; Klockgether, Thomas; Faber, Jennifer

Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort

脊髓小脑性共济失调3型生物标志物的进展:ESMI队列前瞻性数据的纵向分析

Berger, Moritz; Garcia-Moreno, Hector; Ferreira, Mónica; Hubener-Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; Teichmann, Kennet M; Santana, Magda M; Grobe-Einsler, Marcus; Oender, Demet; Koyak, Berkan S C; Bernsen, Sarah; Pereira de Almeida, Luís; Silva, Patrick; Ribeiro, Joana Afonso; Cunha, Inês; Gonzalez-Robles, Cristina; Khan, Shamsher; Heslegrave, Amanda; Zetterberg, Henrik; Lima, Manuela; Raposo, Mafalda; Ferreira, Ana F; Vasconcelos, João; van de Warrenburg, Bart P; van Gaalen, Judith; van Prooije, Teije H; de Vries, Jeroen; Schols, Ludger; Riess, Olaf; Synofzik, Matthis; Timmann, Dagmar; Thieme, Andreas; Erdlenbruch, Friedrich; Infante, Jon; Pelayo-Negro, Ana L; Manrique, Leire; Reetz, Kathrin; Dogan, Imis; Oz, Gulin; Joers, James M; Bushara, Khalafalla; Onyike, Chiadikaobi; Povazan, Michal; Jacobi, Heike; Schmahmann, Jeremy D; Ratai, Eva-Maria; Schmid, Matthias; Giunti, Paola; Klockgether, Thomas; Faber, Jennifer

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis.

ATXN2 中间 CAG 重复序列、9bp 重复和选择性剪接对 SCA3 发病机制的影响

Lauerer Marilena, Faber Jennifer, Casadei Nicolas, Santana Magda M, Auburger Georg, Pogoda Michaela, Admard Jakob, Kaupp Lea, Kos Patricia Laura, Raposo Mafalda, Lima Manuela, de Almeida Luis Pereira, Garcia-Moreno Hector, Giunti Paola, de Vries Jeroen, van de Warrenburg Bart P, van Gaalen Judith, Grobe-Einsler Marcus, Koyak Berkan, Reetz Kathrin, Erdlenbruch Friedrich, Jacobi Heike, Infante Jon, Hengel Holger, Schöls Ludger, Klockgether Thomas, Rieß Olaf, Hübener-Schmid Jeannette

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort.

脊髓小脑性共济失调 3 型生物标志物的进展:ESMI 队列纵向数据分析

Berger Moritz, Garcia-Moreno Hector, Ferreira Monica, Hubener-Schmid Jeannette, Schaprian Tamara, Wegner Philipp, Elter Tim, Teichmann Kennet, Santana Magda M, Grobe-Einsler Marcus, Onder Demet, Koyak Berkan, Bernsen Sarah, de Almeida Luís Pereira, Silva Patrick, Ribeiro Joana Afonso, Cunha Inês, Gonzalez-Robles Cristina, Khan Shamsher, Heslegrave Amanda, Zetterberg Henrik, Lima Manuela, Raposo Mafalda, Ferreira Ana F, Vasconcelos João, van de Warrenburg Bart P, van Gaalen Judith, van Prooije Teije H, de Vries Jeroen, Schols Ludger, Riess Olaf, Synofzik Matthis, Timmann Dagmar, Thieme Andreas, Erdlenbruch Friedrich, Infante Jon, Pelayo Ana Lara, Manrique Leire, Reetz Kathrin, Dogan Imis, Oz Gulin, Joers James M, Bushara Khalaf, Onyike Chiadikaobi, Povazan Michal, Jacobi Heike, Schmahmann Jeremy D, Ratai Eva-Maria, Schmid Matthias, Giunti Paola, Klockgether Thomas, Faber Jennifer

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3

脊髓小脑性共济失调3型致病基因相关多态性的区域分布

Elter, Tim Lukas; Sturm, Daniel; Santana, Magda M; Schaprian, Tamara; Raposo, Mafalda; Melo, Ana Rosa Vieira; Lima, Manuela; Koyak, Berkan; Oender, Demet; Grobe-Einsler, Marcus; Lopes, Sara; Silva, Patrick; de Almeida, Luís Pereira; Giunti, Paola; Garcia-Moreno, Hector; Nethisinhe, Suran; de Vries, Jeroen; van de Warrenburg, Bart P; van Gaalen, Judith; Synofzik, Matthis; Schöls, Ludger; Reetz, Kathrin; Erdlenbruch, Friedrich; Jacobi, Heike; Infante, Jon; Riess, Olaf; Klockgether, Thomas; Faber, Jennifer; Hübener-Schmid, Jeannette

Stage-dependent biomarker changes in spinocerebellar ataxia type 3

脊髓小脑性共济失调3型的阶段依赖性生物标志物变化

Faber, Jennifer; Berger, Moritz; Carlo, Wilke; Hübener-Schmid, Jeannette; Schaprian, Tamara; Santana, Magda M; Grobe-Einsler, Marcus; Onder, Dement; Koyak, Berkan; Giunti, Paola; Garcia-Moreno, Hector; Gonzalez-Robles, Cristina; Lima, Manuela; Raposo, Mafalda; Melo, Ana Rosa Vieira; de Almeida, Luis Pereira; Silva, Patrick; Pinto, Maria M; van de Warrenburg, Bart P; van Gaalen, Judith; de Vries, Jeroen; Jeroen; Oz, Gulin; Joers, James M; Synofzik, Matthis; Schöls, Ludger; Riess, Olaf; Infante, Jon; Manrique, Leire; Timmann, Dagmar; Thieme, Andreas; Jacobi, Heike; Reetz, Kathrin; Dogan, Imis; Onyike, Chiadikaobi; Povazan, Michal; Schmahmann, Jeremy; Ratai, Eva-Maria; Schmid, Matthias; Klockgether, Thomas

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

脊髓小脑性共济失调3型患者的脑和脊髓区域性体积丢失

Faber, Jennifer; Schaprian, Tamara; Berkan, Koyak; Reetz, Kathrin; França, Marcondes Cavalcante Jr; de Rezende, Thiago Junqueira Ribeiro; Hong, Jiang; Liao, Weihua; van de Warrenburg, Bart; van Gaalen, Judith; Durr, Alexandra; Mochel, Fanny; Giunti, Paola; Garcia-Moreno, Hector; Schoels, Ludger; Hengel, Holger; Synofzik, Matthis; Bender, Benjamin; Oz, Gulin; Joers, James; de Vries, Jereon J; Kang, Jun-Suk; Timmann-Braun, Dagmar; Jacobi, Heike; Infante, Jon; Joules, Richard; Romanzetti, Sandro; Diedrichsen, Jorn; Schmid, Matthias; Wolz, Robin; Klockgether, Thomas

PREVENTION-ACHD: PRospEctiVE study on implaNTable cardioverter-defibrillator therapy and suddeN cardiac death in Adults with Congenital Heart Disease; Rationale and Design

PREVENTION-ACHD:一项关于植入式心脏复律除颤器治疗与成人先天性心脏病患者猝死的前瞻性研究;研究原理和设计

Vehmeijer, J T; Koyak, Z; Zwinderman, A H; Harris, L; Peinado, R; Oechslin, E N; Silversides, C K; Bouma, B J; Budts, W; van Gelder, I C; Oliver, J M; Mulder, B J M; de Groot, J R