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

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease

亨廷顿病中HTT基因小CAG重复序列扩增的序列变异与疾病发生和进展的关系

Heinzmann, Anna; Petit, Emilien; Dawson, Jessica; Kay, Chris; Davoine, Claire-Sophie; Méreaux, Jean-Loup; Black, Hailey Findlay; Arning, Larissa; Nguyen, Huu Phuc; Coarelli, Giulia; Sayah, Sabrina; Pariente, Jeremie; Gérard, Fleur; Hurmic, Hortense; Hayden, Michael R; Durr, Alexandra

How to improve statistical power in a trial with SCA2 patients using natural history data

如何利用自然史数据提高SCA2患者试验的统计效力

Tran, Maylis; Poulet, Pierre-Emmanuel; Petit, Emilien; Durr, Alexandra; Klockgether, Thomas; Ashizawa, Tetsuo; Coarelli, Giulia; du Montcel, Sophie Tezenas

Prevalence, Severity, and Progression of Cerebellar Cognitive-Affective Syndrome in Patients With Spinocerebellar Ataxias

脊髓小脑性共济失调患者小脑认知情感综合征的患病率、严重程度和进展

Petit, Emilien; López Domínguez, Daniel; Marelli, Cecilia; Sayah, Sabrina; Pulst, Stefan M; Faber, Jennifer; Oz, Gulin; Paulson, Henry L; Ashizawa, Tetsuo; Tezenas du Montcel, Sophie; Durr, Alexandra; Coarelli, Giulia

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics

GAA-FGF14 迟发性小脑共济失调 (SCA27B) 的神经病变:患病率和特征

Theuriet, Julian; Paulet, Lukas; Acket, Blandine; Ory-Magne, Fabienne; Belbachir, Hocine; Chanson, Jean-Baptiste; Bouhour, Françoise; Laurencin, Chloé; Froment Tilikete, Caroline; Lardeux, Pierre; Clement, Guillemette; Hocquel, Armand; Renaud, Mathilde; Bonnet, Céline; Marelli, Cecilia; Weber, Sacha; Comet, Camille; Azulay, Jean-Philippe; Fluchère, Frédérique; Coarelli, Giulia; Heinzmann, Anna; Ewenczyk, Claire; Verny, Christophe; Guillet-Pichon, Virginie; Guyant-Marechal, Lucie; Desjardins, Clément; Riou, Audrey; Degos, Bertrand; Mercier, Sandra; Goizet, Cyril; Degoutin, Manon; Angelini, Chloé; Laurens, Brice; Degardin, Adrian; Carrière, Nicolas; Le Guyader, Gwenaël; Schneider, Vincent; Dupont, Gwendoline; Thomas, Quentin; Merindol, Maxime; Besse-Pinot, Elsa; Méneret, Aurélie; Roze, Emmanuel; Durr, Alexandra; Thobois, Stéphane; Anheim, Mathieu; Wirth, Thomas; Pegat, Antoine

Substantia nigra degeneration in spinocerebellar ataxia 2 and 7 using neuromelanin-sensitive imaging

利用神经黑色素敏感成像技术研究脊髓小脑性共济失调2型和7型患者的黑质变性

Chougar, Lydia; Coarelli, Giulia; Lejeune, François-Xavier; Ziegner, Pia; Gaurav, Rahul; Biondetti, Emma; Sayah, Sabrina; Hilab, Rania; Dagher, Alain; Durr, Alexandra; Lehéricy, Stéphane

Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study

遗传性痉挛性截瘫:何时会出现膀胱功能障碍——一项基因和尿动力学研究

Lallemant-Dudek, Pauline; Guillaud-Bataille, Marine; Hentzen, Claire; Joussain, Charles; Pichon, Bertrand; Robain, Gilberte; Haddad, Rebecca; Coarelli, Giulia; Heinzmann, Anna; Denys, Pierre; Amarenco, Gérard; Durr, Alexandra

The Two Faces of Pediatric SCA2

儿童SCA2的两面性

Rive Le Gouard, Nicolas; G Bah, Maissa; Coarelli, Giulia; Heinzmann, Anna; Fauret, Anne-Laure; de Sainte-Agathe, Jean-Madeleine; Cazeneuve, Cécile; Gerasimenko, Anna; Gras, Domitille; Capri, Yline; Renaud, Mathilde; Brais, Bernard; Grenenko, Cecile; Masurel, Alice; Berquin, Patrick; Jobic, Florence; Métreau, Julia; Deiva, Kumaran; Afenjar, Alexandra; Gravrand, Victor; Lannuzel, Annie; Anheim, Mathieu; Geis, Tobias; Hehr, Ute; Madan Cohen, Jennifer; Desnous, Béatrice; J A Kievit, Anneke; Bahi-Buisson, Nadia; Rodriguez, Diana; Renaldo, Florence; Cances, Claude; Devos, David; Angelini, Chloé; Goizet, Cyril; Ewenczyk, Claire; Durr, Alexandra; Mignot, Cyril

Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

利用项目反应理论对数字运动和临床医生报告的结果进行整合建模:迈向罕见神经系统疾病的强有力试验

Hamdan, Alzahra; Traschütz, Andreas; Beichert, Lukas; Chen, Xiaomei; Gagnon, Cynthia; van de Warrenburg, Bart P; Santorelli, Filippo M; Başak, Nazlı; Coarelli, Giulia; Horvath, Rita; Klebe, Stephan; Schüle, Rebecca; Hooker, Andrew C; Synofzik, Matthis; Karlsson, Mats O

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers

遗传性共济失调临床试验的最佳眼动终点:共济失调全球倡议数字运动生物标志物工作组的系统评价和共识

Pretegiani, Elena; Garces, Pilar; Antoniades, Chrystalina A; Sobanska, Anna; Kovacs, Norbert; Ying, Sarah H; Gupta, Anoopum S; Perlman, Susan; Szmulewicz, David J; Pane, Chiara; Németh, Andrea H; Jardim, Laura B; Coarelli, Giulia; Kuzmiak, Michaela; Milovanovic, Andona; Traschütz, Andreas; Tarnutzer, Alexander A