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

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

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

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

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

非扩张型脊髓小脑性共济失调的表型异质性极高

Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hübsch, Tanja; Doss, Sarah; Van Velzen, Gijs A J; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Van de Warrenburg, Bart; Schöls, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra

Toward the Definition of Patient-Reported Outcome Measurements in Hereditary Spastic Paraplegia

探讨遗传性痉挛性截瘫患者报告结局测量指标的定义

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

Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich's ataxia

骨骼肌蛋白质组分析证实了弗里德赖希共济失调的多方面线粒体功能障碍

Elisabetta Indelicato, Klaus Faserl, Matthias Amprosi, Wolfgang Nachbauer, Rainer Schneider, Julia Wanschitz, Bettina Sarg, Sylvia Boesch

Skeletal muscle transcriptomics dissects the pathogenesis of Friedreich's ataxia

骨骼肌转录组学揭示弗里德赖希共济失调的发病机制

Elisabetta Indelicato ,Alexander Kirchmair ,Matthias Amprosi ,Stephan Steixner ,Wolfgang Nachbauer ,Andreas Eigentler ,Nico Wahl ,Galina Apostolova ,Anne Krogsdam ,Rainer Schneider ,Julia Wanschitz ,Zlatko Trajanoski ,Sylvia Boesch