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

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

Blood DDIT4 and TRIM13 Transcript Levels Mark the Early Stages of Machado-Joseph Disease.

血液中 DDIT4 和 TRIM13 转录水平标志着马查多-约瑟夫病的早期阶段

Ferreira Ana F, Raposo Mafalda, Shaw Emily D, Liu Louisa, Vasconcelos João, Kay Teresa, Bettencourt Conceição, Saraiva-Pereira Maria Luiza, Jardim Laura Bannach, Costa Maria do Carmo, Lima Manuela

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

From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal

从歧视到社会接纳度的提高?在葡萄牙亚速尔群岛圣米格尔岛,与马查多-约瑟夫病共存的生活

Couto, Daniela; Sequeiros, Jorge; Lima, Manuela; Sousa, Liliana; Mendes, Álvaro

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

Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors

更正:SCA3 中非运动症状的发生频率及其与疾病严重程度和生活方式因素的关系

Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunti, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P; Santana, Magda M; Silva, Patrick; Cunha, Inês; de Almeida, Luís Pereira; Timmann, Dagmar; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Pires, Paula; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D; Hübener-Schmid, Jeannette; Synofzik, Matthis; Schöls, Ludger

Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers

马查多-约瑟夫病基因突变携带者的血液样本中,整体DNA甲基化水平并未升高。

Teves, Luís; Vieira Melo, Ana Rosa; Ferreira, Ana F; Raposo, Mafalda; Lemos, Carolina; Bettencourt, Conceição; Lima, Manuela

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

SCA3患者非运动症状的发生频率及其与疾病严重程度和生活方式因素的关系

Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunit, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, Kathrin; van de Warrenburg, Bart P; Santana, Magda M; Silva, Patrick; Cunha, Inês; de Almeida, Luís Pereira; Timmann, Dagmar; Infante, Jon; de Vries, Jeroen; Lima, Manuela; Pires, Paula; Bushara, Khalaf; Jacobi, Heike; Onyike, Chiadi; Schmahmann, Jeremy D; Hübener-Schmid, Jeannette; Synofzik, Matthis; Schöls, Ludger