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

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia.

纵向分析表明,GAA1 长度和基线临床状态是弗里德赖希共济失调进展的可靠预测指标。

Manrique Leire, Martínez-Dubarbie Francisco, Pelayo-Negro Ana L, Benitez-Calle Natalia, Sanchez-Pelaez María Victoria, Cota-Gonzalez Daniel, Loza Ruben, Martinez-Díaz Raquel, Irure-Ventura Juan, Sanchez-Quintana Coro, Sanchez Ivelisse, Matilla-Dueñas Antoni, Infante Jon

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

In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson's disease.

深入的质谱分析揭示磷酸化 RAB12 是 G2019S LRRK2 驱动的帕金森病的血液生物标志物

Cortés Adriana, Phung Toan K, de Mena Lorena, Garrido Alicia, Infante Jon, Ruíz-Martínez Javier, Galmés-Ordinas Miquel À, Glendinning Sophie, Pérez Jesica, Roig Ana, Soto Marta, Cosgaya Marina, Ravasi Valeria, Fernández Manel, Rubiano-Castro Alejandro, Díaz Ramón, Hernández-Eguiazu Haizea, Sánchez-Quintana Coro, Vinagre-Aragón Ana, Mondragón Elisabet, Croitoru Ioana, Rivera-Sánchez María, Corrales-Pardo Andrea, Sierra María, Tolosa Eduardo, Malagelada Cristina, Nirujogi Raja S, Fernández-Irigoyen Joaquín, Santamaría Enrique, Alessi Dario R, Martí María J, Ezquerra Mario, Fernández-Santiago Rubén

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

HTT, ATXN1 and ATXN2 CAG triplet repeat sizes: exploring their role in the disease risk and cancer comorbidity in Parkinson's disease

HTT、ATXN1 和 ATXN2 CAG 三核苷酸重复序列大小:探索其在帕金森病疾病风险和癌症合并症中的作用

Pérez-Oliveira, Sergio; Álvarez, Ignacio; Menéndez-González, Manuel; Duarte-Herrera, Israel David; Blázquez-Estrada, Marta; Castilla-Silgado, Juan; Suárez, Esther; García-Fernández, Ciara; Siso-García, Pablo; García-González, Pablo; Rosende-Roca, Maitee; Boada, Mercè; Ruiz, Agustín; Infante, Jon; De la Casa-Fages, Beatriz; González-Aramburu, Isabel; Álvarez, Victoria; Pastor, Pau

Overcoming Absorption Issues: Success with Inhaled Levodopa in a Gastrectomized PD Patient

克服吸收障碍:吸入左旋多巴治疗胃切除术后帕金森病患者的成功案例

Delgado-Alvarado, Manuel; Infante, Jon; Serafini-Vicencio, Sebastián; Miliani-Molina, Carlos; Pereira-Pérez, Fernando; Riancho, Javier

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

Genome sequence analyses identify novel risk loci for multiple system atrophy

基因组序列分析发现了多系统萎缩的新风险位点

Chia, Ruth; Ray, Anindita; Shah, Zalak; Ding, Jinhui; Ruffo, Paola; Fujita, Masashi; Menon, Vilas; Saez-Atienzar, Sara; Reho, Paolo; Kaivola, Karri; Walton, Ronald L; Reynolds, Regina H; Karra, Ramita; Sait, Shaimaa; Akcimen, Fulya; Diez-Fairen, Monica; Alvarez, Ignacio; Fanciulli, Alessandra; Stefanova, Nadia; Seppi, Klaus; Duerr, Susanne; Leys, Fabian; Krismer, Florian; Sidoroff, Victoria; Zimprich, Alexander; Pirker, Walter; Rascol, Olivier; Foubert-Samier, Alexandra; Meissner, Wassilios G; Tison, François; Pavy-Le Traon, Anne; Pellecchia, Maria Teresa; Barone, Paolo; Russillo, Maria Claudia; Marín-Lahoz, Juan; Kulisevsky, Jaime; Torres, Soraya; Mir, Pablo; Periñán, Maria Teresa; Proukakis, Christos; Chelban, Viorica; Wu, Lesley; Goh, Yee Y; Parkkinen, Laura; Hu, Michele T; Kobylecki, Christopher; Saxon, Jennifer A; Rollinson, Sara; Garland, Emily; Biaggioni, Italo; Litvan, Irene; Rubio, Ileana; Alcalay, Roy N; Kwei, Kimberly T; Lubbe, Steven J; Mao, Qinwen; Flanagan, Margaret E; Castellani, Rudolph J; Khurana, Vikram; Ndayisaba, Alain; Calvo, Andrea; Mora, Gabriele; Canosa, Antonio; Floris, Gianluca; Bohannan, Ryan C; Moore, Anni; Norcliffe-Kaufmann, Lucy; Palma, Jose-Alberto; Kaufmann, Horacio; Kim, Changyoun; Iba, Michiyo; Masliah, Eliezer; Dawson, Ted M; Rosenthal, Liana S; Pantelyat, Alexander; Albert, Marilyn S; Pletnikova, Olga; Troncoso, Juan C; Infante, Jon; Lage, Carmen; Sánchez-Juan, Pascual; Serrano, Geidy E; Beach, Thomas G; Pastor, Pau; Morris, Huw R; Albani, Diego; Clarimon, Jordi; Wenning, Gregor K; Hardy, John A; Ryten, Mina; Topol, Eric; Torkamani, Ali; Chiò, Adriano; Bennett, David A; De Jager, Philip L; Low, Philip A; Singer, Wolfgang; Cheshire, William P; Wszolek, Zbigniew K; Dickson, Dennis W; Traynor, Bryan J; Gibbs, J Raphael; Dalgard, Clifton L; Ross, Owen A; Houlden, Henry; Scholz, Sonja W