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

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

SCA27B的临床、遗传和影像学特征:来自荷兰大型队列研究的启示

van Prooije, Teije H; Pennings, Maartje; Maas, Roderick P P W M; de Vries, Jeroen; Verschuuren-Bemelmans, Corien; Odekerken, Vincent; Darweesh, Sirwan K L; Huisman, Mark; Oosterloo, Mayke; Buijink, Arthur; van de Wardt, Jaron; Vanhoutte, Els; Wong, Tsz Hang; Koens, Lisette; de Boer, Eva; van Gaalen, Judith; Beudel, Martijn; Roos, Dareia S; Hoff, Jorrit I; Cornelissen, Thimo; Schouten, Meyke; Gardeichik, Thatjana; van der Looij, Erica; Klein, Christine; Trinh, Joanne; Kamsteeg, Erik-Jan; van de Warrenburg, Bart

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

Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia

特发性神经病和小脑共济失调患者麸质相关抗体的血清学分析

Rouvroye, Maxine D; Warendorf, Janna; Vrancken, Alexander; Eftimov, Filip; Wieske, Luuk; Faber, Catharina G; Hoeijmakers, Janneke G J; Damoiseaux, Jan; van de Warrenburg, Bart; van Gaalen, Judith; van der Molen, Renate; Bouma, Gerd; Bontkes, Hetty

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

Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study

脊髓小脑性共济失调中基因型特异性脊髓损伤:一项ENIGMA-Ataxia研究

Rezende, Thiago Junqueira Ribeiro; Adanyaguh, Isaac; Barsottini, Orlando G P; Bender, Benjamin; Cendes, Fernando; Coutinho, Leo; Deistung, Andreas; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Hernandez-Castillo, Carlos R; Lenglet, Christophe; Mariotti, Caterina; Martinez, Alberto R M; Massuyama, Breno K; Mochel, Fanny; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Öz, Gülin; Pedroso, José Luiz; Reetz, Kathrin; Synofzik, Matthis; Teive, Helio; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; van de Warrenburg, Bart P C; van Gaalen, Judith; França, Marcondes C Jr; Harding, Ian H

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

Correction: Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

更正:共济失调患者的小脑体积测量:与共济失调严重程度和持续时间的关系

Ferreira, Mónica; Schaprian, Tamara; Kügler, David; Reuter, Martin; Deike-Hoffmann, Katharina; Timmann, Dagmar; Ernst, Thomas M; Giunti, Paola; Garcia-Moreno, Hector; van de Warrenburg, Bart; van Gaalen, Judith; de Vries, Jeroen; Jacobi, Heike; Steiner, Katharina Marie; Öz, Gülin; Joers, James M; Onyike, Chiadi; Povazan, Michal; Reetz, Kathrin; Romanzetti, Sandro; Klockgether, Thomas; Faber, Jennifer

Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration

共济失调患者的小脑体积测量:与共济失调严重程度和持续时间的关系

Ferreira, Mónica; Schaprian, Tamara; Kügler, David; Reuter, Martin; Deike-Hoffmann, Katharina; Timmann, Dagmar; Ernst, Thomas M; Giunti, Paola; Garcia-Moreno, Hector; van de Warrenburg, Bart; van Gaalen, Judith; de Vries, Jeroen; Jacobi, Heike; Steiner, Katharina Marie; Öz, Gülin; Joers, James M; Onyike, Chiadi; Povazan, Michal; Reetz, Kathrin; Romanzetti, Sandro; Klockgether, Thomas; Faber, Jennifer