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

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

轻度至中度弗里德赖希共济失调患者的患者报告心理社会和健康经济学结果:PROFA 研究的基线结果

Grobe-Einsler, Marcus; Borel, Stéphanie; Buchholz, Maresa; Sayah, Sabrina; Hilab, Rania; Pierron, Lucie; Iskandar, Audrey; Humphries, Brittany; Ewenczyk, Claire; Heinzmann, Anna; Atencio, Mariana; Feldmann, Katrin; Maas, Vivian; Faber, Jennifer; Boesch, Sylvia; Indelicato, Elisabetta; Reetz, Kathrin; Schulz, Jörg B; Bischoff, Almut T; Klopstock, Thomas; Schöls, Ludger; Minnerop, Martina; Timmann, Dagmar; Davies, Elin H; Klockgether, Thomas; Durr, Alexandra; Xie, Feng; Michalowsky, Bernhard

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

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

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

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

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

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions

FGF14 GAA 扩增导致小脑共济失调的临床和遗传关键

Jean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie-Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot-Noël, Sylvie Forlani, Ludmila Jornea, Anna Heinzmann, Aude Sangare, Bertrand Gaymard, Luc

SARA captures disparate progression and responsiveness in spinocerebellar ataxias

SARA 能够捕捉脊髓小脑性共济失调的不同进展和反应性

Petit, Emilien; Schmitz-Hübsch, Tanja; Coarelli, Giulia; Jacobi, Heike; Heinzmann, Anna; Figueroa, Karla P; Perlman, Susan L; Gomez, Christopher M; Wilmot, George R; Schmahmann, Jeremy D; Ying, Sarah H; Zesiewicz, Theresa A; Paulson, Henry L; Shakkottai, Vikram G; Bushara, Khalaf O; Kuo, Sheng-Han; Geschwind, Michael D; Xia, Guangbin; Pulst, Stefan M; Subramony, S H; Ewenczyk, Claire; Brice, Alexis; Durr, Alexandra; Klockgether, Thomas; Ashizawa, Tetsuo; Tezenas du Montcel, Sophie

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

Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset

弗里德赖希共济失调患者SARA评分的纵向变化:基线评分和发病年龄的显著影响

Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; Rodríguez de Rivera, Francisco Javier; Schöls, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Jörg B; Reetz, Kathrin; Mariotti, Caterina