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Propensity-matched analysis comparing omaveloxolone treatment to Friedreich ataxia natural history data: a plain language summary 倾向性匹配分析比较奥马波唑醇治疗与弗里德赖希共济失调自然史数据:一份通俗语言摘要 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, Sub H.; Wilmot, George; Zesiewicz, Theresa; Weissfeld, Lisa; Meyer, Colin 分享 收藏
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Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal study 年龄对Friedreich共济失调患者神经丝轻链的影响:一项1年纵向研究 Petrillo, Sara; Mongelli, Alessia; Castaldo, Anna; Sarro, Lidia; Azzarelli, Samuele; Ronco, Riccardo; Castellotti, Barbara; Gellera, Cinzia; Piemonte, Fiorella; Mariotti, Caterina 分享 收藏
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders KIF5A-associated神经退行性或神经发育障碍的分子和细胞机制改变 Cozzi, Marta; Magri, Stefania; Tedesco, Barbara; Patelli, Guglielmo; Ferrari, Veronica; Casarotto, Elena; Chierichetti, Marta; Pramaggiore, Paola; Cornaggia, Laura; Piccolella, Margherita; Galbiati, Mariarita; Rusmini, Paola; Crippa, Valeria; Mandrioli, Jessica; Pareyson, Davide; Pisciotta, Chiara; D'Arrigo, Stefano; Ratti, Antonia; Nanetti, Lorenzo; Mariotti, Caterina; Sarto, Elisa; Pensato, Viviana; Gellera, Cinzia; Di Bella, Daniela; Cristofani, Riccardo M.; Taroni, Franco; Poletti, Angelo 分享 收藏
A cutting-edge approach based on UHPLC-MS to simultaneously investigate oxysterols and cholesterol precursors in biological samples: Validation in Huntington's disease mouse model Passoni, Alice; Favagrossa, Monica; Valenza, Marta; Birolini, Giulia; Lanno, Alessia; Mariotti, Caterina; Cattaneo, Elena; Salmona, Mario; Colombo, Laura; Bagnati, Renzo 分享 收藏
Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2 Grisoli, Marina; Nigri, Anna; Medina Carrion, Jean Paul; Palermo, Sara; Demichelis, Greta; Giacosa, Chiara; Mongelli, Alessia; Fichera, Mario; Nanetti, Lorenzo; Mariotti, Caterina 分享 收藏
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease 在Friedreich共济失调患者中进行的rna-seq研究将hsa-miR-148a-3p确定为该疾病的推定预后生物标志物 Vancheri, Chiara; Quatrana, Andrea; Morini, Elena; Mariotti, Caterina; Mongelli, Alessia; Fichera, Mario; Rufini, Alessandra; Condo, Ivano; Testi, Roberto; Novelli, Giuseppe; Malisan, Florence; Amati, Francesca 分享 收藏
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Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study 脊髓小脑共济失调的基因型特异性脊髓损伤: 一项谜-共济失调研究 Rezende, Thiago Junqueira Ribeiro; Adanyaguh, Isaac; Barsottini, Orlando G. P.; Bender, Benjamin; Cendes, Fernando; Coutinho, Leo; Deistung, Andreas; Dogan, Imis; Durr, Alexandra; Fernandez-Ruiz, Juan; Goericke, Sophia L.; Grisoli, Marina; Hernandez-Castillo, Carlos R.; Lenglet, Christophe; Mariotti, Caterina; Martinez, Alberto R. M.; Massuyama, Breno K.; Mochel, Fanny; Nanetti, Lorenzo; Nigri, Anna; Ono, Sergio E.; Oz, Gulin; Pedroso, Jose Luiz; Reetz, Kathrin; Synofzik, Matthis; Teive, Helio; Thomopoulos, Sophia, I; Thompson, Paul M.; Timmann, Dagmar; van de Warrenburg, Bart P. C.; van Gaalen, Judith; Franca Jr, Marcondes C.; Harding, Ian H. 分享 收藏
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study Indelicato, Elisabetta; Reetz, Kathrin; Maier, Sarah; Nachbauer, Wolfgang; Amprosi, Matthias; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Garrido, Francisco J. R. de Rivera; Klopstock, Thomas; Schoels, Ludger; Klockgether, Thomas; Buerk, Katrin; Pandolfo, Massimo; Didszun, Claire; Grobe-Einsler, Marcus; Nanetti, Lorenzo; Nenning, Lukas; Kiechl, Stefan; Dichtl, Wolfgang; Ulmer, Hanno; Schulz, Joerg B.; Boesch, Sylvia 分享 收藏
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data 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 分享 收藏
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset 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; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin; Mariotti, Caterina 分享 收藏
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 非扩张性脊髓小脑共济失调的极端表型异质性 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-Hubsch, 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; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra 分享 收藏
Abnormalities of lipid metabolism in neuronal models of CoQ10 deficiency Pesini, Alba; Monzio-Compagnoni, Giacomo; Barriocanal-Casado, Eliana; Hidalgo-Gutierrez, Agustin; Kleiner, Giulio; Yanez, Giussepe A.; Bakkali, Mohamed; Monfrini, Edoardo; Chhonker, Yashpal S.; Tadesse, Saba; Larrea, Delfina; Murry, Daryl J.; Mariotti, Caterina; Castellotti, Barbara; Lopez, Luis; Di Fonzo, Alesio; Area-Gomez, Estela; Quinzii, Catarina M. 分享 收藏
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia 双基因TBP/STUB1脊髓小脑共济失调患者的复合共济失调-痴呆表型 Nanetti, Lorenzo; Magri, Stefania; Fichera, Mario; Castaldo, Anna; Nigri, Anna; Pinardi, Chiara; Mongelli, Alessia; Sarro, Lidia; Pareyson, Davide; Grisoli, Marina; Gellera, Cinzia; Di Bella, Daniela; Mariotti, Caterina; Taroni, Franco 分享 收藏