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

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

EFACTS研究中,对弗里德赖希共济失调患者12年间非共济失调体征清单修订版的分析

Lischewski, Stella Andrea; Dogan, Imis; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodríguez; Schöls, Ludger; Fleszar, Zofia; Klockgether, Thomas; Grobe-Einsler, Marcus; Giordano, Ilaria; Rai, Myriam; Pandolfo, Massimo; Jacobi, Heike; Hilgers, Ralf-Dieter; Schulz, Jörg B; Reetz, Kathrin

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort

遗传性痉挛性截瘫的自然史:来自奥地利队列的真实世界数据

Amprosi, Matthias; Indelicato, Elisabetta; Eigentler, Andreas; Boesch, Daniel; Fritz, Josef; Nachbauer, Wolfgang; Boesch, Sylvia

Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias

基因型和发病年龄驱动 CACNA1A 和 GAA-FGF14 相关共济失调中的小脑蚓部萎缩

Indelicato, Elisabetta; Nachbauer, Wolfgang; Amprosi, Matthias; Pellerin, David; Mangesius, Stephanie; Gizewski, Elke R; Kiechl, Stefan; Brais, Bernhard; Boesch, Sylvia; Krismer, Florian

The Pattern and Stages of Atrophy in Spinocerebellar Ataxia Type 2: Volumetrics from ENIGMA-Ataxia

脊髓小脑性共济失调2型的萎缩模式和阶段:基于ENIGMA-Ataxia的体积测量

Robertson, Jason W; Adanyeguh, Isaac; Bender, Benjamin; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Coutinho, Léo; Deistung, Andreas; Diciotti, Stefano; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Göricke, Sophia L; Grisoli, Marina; Han, Shuo; Mariotti, Caterina; Marzi, Chiara; Mascalchi, Mario; Mochel, Fanny; Nachbauer, Wolfgang; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E; Onyike, Chiadi U; Prince, Jerry L; Reetz, Kathrin; Romanzetti, Sandro; Saccà, Francesco; Synofzik, Matthis; Teive, Hélio A Ghizoni; Thomopoulos, Sophia I; Thompson, Paul M; Timmann, Dagmar; Ying, Sarah H; Harding, Ian H; Hernandez-Castillo, Carlos R

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications

GAA-FGF14 扩增和 CACNA1A 变异:表型重叠和诊断意义

Indelicato, Elisabetta; Fleszar, Zofia; Pellerin, David; Nachbauer, Wolfgang; Zuchner, Stephan; Traschütz, Andreas; Amprosi, Matthias; Schöls, Ludger; Haack, Tobias B; Brais, Bernard; Boesch, Sylvia; Synofzik, Matthis

Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study

EFACTS自然史研究中,对弗里德赖希共济失调患者进行为期5年的纵向人体测量学分析

Lischewski, Stella Andrea; Konrad, Kerstin; Dogan, Imis; Didszun, Claire; Costa, Ana Sofia; Schawohl, Sara Annabelle; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodríguez; Schöls, Ludger; Fleszar, Zofia; Klockgether, Thomas; Grobe-Einsler, Marcus; Giordano, Ilaria; Rai, Myriam; Pandolfo, Massimo; Schulz, Jörg B; Reetz, Kathrin

Neck and mind: exploring emotion processing in cervical dystonia

颈部与心理:探索颈肌张力障碍中的情绪处理

Carbone, Federico; Peball, Marina; Ellmerer, Philipp; Heim, Beatrice; Nachbauer, Wolfgang; Indelicato, Elisabetta; Amprosi, Matthias; Mahlknecht, Philipp; Hussl, Anna; Hotter, Anna; Granata, Roberta; Seppi, Klaus; Djamshidian, Atbin; Boesch, Sylvia

Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies

静息态脑电图分析揭示 CACNA1A 和 GAA-FGF14 相关离子通道病的特征

Angerbauer, Raphael; Unterberger, Iris; Nachbauer, Wolfgang; Amprosi, Matthias; Boesch, Sylvia; Cesari, Matteo; Indelicato, Elisabetta

Natural history of non-polyglutamine CACNA1A disease in Austria

奥地利非多聚谷氨酰胺 CACNA1A 疾病的自然史

Indelicato, Elisabetta; Nachbauer, Wolfgang; Amprosi, Matthias S; Maier, Sarah; Unterberger, Iris; Delazer, Margarete; Kaltseis, Katharina; Kiechl, Stefan; Broessner, Gregor; Baumann, Matthias; Boesch, Sylvia

Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data

倾向性匹配比较奥马维洛酮治疗与弗里德赖希共济失调自然史数据

Lynch, David R; Goldsberry, Angie; Rummey, Christian; Farmer, Jennifer; Boesch, Sylvia; Delatycki, Martin B; Giunti, Paola; Hoyle, J Chad; Mariotti, Caterina; Mathews, Katherine D; Nachbauer, Wolfgang; Perlman, Susan; Subramony, S H; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin