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

The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

ESMI队列中3型脊髓小脑性共济失调突变携带者的用药模式

Silva, Patrick; Costa, Marina A; Gaspar, Laetitia; Durães, João; Cunha, Inês; Ribeiro, Joana A; Januário, Cristina; Oliveiros, Bárbara; Hübener-Schmid, Jeannette; Faber, Jennifer; Raposo, Mafalda; Lima, Manuela; Garcia-Moreno, Hector; Giunti, Paola; Beichert, Lukas; Schöls, Ludger; van de Warrenburg, Bart P; de Vries, Jeroen; Thieme, Andreas; Reetz, Kathrin; Jacobi, Heike; Infante, Jon; Klockgether, Thomas; de Almeida, Luís Pereira; Santana, Magda M

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

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

弗里德赖希共济失调患者血浆生物标志物升高:对疾病病理的潜在见解

Rummey, Christian; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Lynch, David R; Abeti, Rosella; Arisoy, Huseyin; Heslegrave, Amanda; Zetterberg, Henrik; Giunti, Paola

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

Role of Repeat Tract Structure and the rs7158733 SNP in Spinocerebellar Ataxia 3

重复序列结构和rs7158733 SNP在脊髓小脑性共济失调3型中的作用

Nethisinghe, Suran; Garcia-Moreno, Hector; Alwan, Jude; Labrum, Robyn; Giunti, Paola

GAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practice

GAD抗体在神经系统疾病中的作用:对GAD抗体在临床实践中的应用价值和治疗意义的批判性评估

Brown, Rachel L; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Chou, Michael; Fleszar, Zofia; Zandi, Michael S; Chapman, Miles; Church, Andrew J; Hart, Melanie; Giunti, Paola; Vincent, Angela; Lunn, Michael P

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

Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

内含子FGF14 GAA重复序列扩增是导致伴有神经病变和双侧前庭病变的共济失调综合征的常见原因。

Pellerin, David; Wilke, Carlo; Traschütz, Andreas; Nagy, Sara; Currò, Riccardo; Dicaire, Marie-Josée; Garcia-Moreno, Hector; Anheim, Mathieu; Wirth, Thomas; Faber, Jennifer; Timmann, Dagmar; Depienne, Christel; Rujescu, Dan; Gazulla, José; Reilly, Mary M; Giunti, Paola; Brais, Bernard; Houlden, Henry; Schöls, Ludger; Strupp, Michael; Cortese, Andrea; Synofzik, Matthis

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C

成人共济失调(包括尼曼-匹克C型)亚群中胆汁酸3β,5α,6β-三羟基胆酰甘氨酸水平升高

Motamed-Gorji, Nazgol; Khalil, Youssef; Gonzalez-Robles, Cristina; Khan, Shamsher; Mills, Philippa; Garcia-Moreno, Hector; Ging, Heather; Tariq, Ambreen; Clayton, Peter T; Giunti, Paola