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C

Chiara Fiorillo

department of neurosciences
H指数:37
被引数:4,366

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Sphingolipid Remodeling and Extracellular Vesicle Signatures Reflect Disease Severity in Facioscapulohumeral Dystrophy Driven by Mitochondrial Dysfunction and Endoplasmic Reticulum Stress

鞘脂重塑和细胞外囊泡特征反映由线粒体功能障碍和内质网应激驱动的面部肩胛肱肌营养不良的疾病严重程度

Antioxidants
IF6.6
2026-09-150
OA
Manuela Moriggi; Lucia Ruggiero; Enrica Torretta; Dario Zoppi; Beatrice Arosio; Chiara Fiorillo; Vincenzo Nigro; Daniele Capitanio; Cecilia Gelfi
Immune-mediated necrotizing myopathies: clinico-serological features and treatment outcomes of a large Italian cohort of patients

免疫介导性坏死性肌病：一大规模意大利患者队列的临床血清学特征及治疗结局

Journal of Neurology
IF4.6
2026-08-310
PRE
Silvia Bonanno; Erika Salvi; Marta Cheli; Franco Salerno; Matteo Lucchini; Alessandra Cicia; Vincenzo Carlomagno; Antonio Lauletta; Laura Tufano; Francesco Girolamo; Lucia Nicolini De Gaetano; Marco Fornaro; Elia Pancheri; Federico Zaottini; Elena Faedo; Patrizia Rovere Querini; Rebecca De Lorenzo; Marina Scarlato; Francesca Bottazzi; Pietro Riguzzi; Sara Gibertini; Barbara Risi; Alessia Pugliese; Dario Zoppi; Lucia Ruggiero; Giulia Ricci; Paolo Manganotti; Gabriele Siciliano; Carmelo Rodolico; Massimiliano Filosto; Luca Bello; Elena Pegoraro; Lorenzo Cavagna; Stefano Carlo Previtali; Chiara Fiorillo; Marina Grandis; Gaetano Vattemi; Paola Tonin; Florenzo Iannone; Giovanni Antonini; Matteo Garibaldi; Massimiliano Mirabella; Lorenzo Maggi
Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies

早发型髓鞘蛋白零相关神经病的表型-基因型相关性

NEUROLOGY-GENETICS
IF3.7
2025-12-010
PRE
Laurini, Christian; Danti, Federica Rachele; Russo, Massimo; Tozza, Stefano; Massucco, Sara; Bertini, Alessandro; Pisciotta, Chiara; D'Arma, Federica; Gentile, Luca; Falzone, Yuri Matteo; Ratti, Adele; Catteruccia, Michela; Fiorillo, Chiara; Cicala, Gianpaolo; Luigetti, Marco; Magri, Stefania; Bellone, Emilia; Fabrizi, Gian Maria; Manganelli, Fiore; Grandis, Marina; Mazzeo, Anna; Pareyson, Davide; Moroni, Isabella; Previtali, Stefano Carlo
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease

α-肌糖蛋白病的肌肉转录组学研究突出了驱动疾病的炎症通路

Brain
IF11.7
2025-10-280
PRE
Adriana Amaro; Francesco Reggiani; Chiara Panicucci; Mariangela Petito; Serena Baratto; Sara Pintus; Elisa Principi; Francesca Antonini; Genny Del Zotto; Valerio Gaetano Vellone; Adele D’Amico; Diego Lopergolo; Paola Tonin; Edoardo Malfatti; Tiziana Mongini; Elena Pegoraro; Stefano C Previtali; Carmelo Rodolico; Giorgio Tasca; Chiara Fiorillo; Elisabetta Gazzerro; Ulrich Pfeffer; Claudio Bruno; Lizzia Raffaghello
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析：一项全国性报告

Biomolecules 2025, Vol. 15, Page 1426
IF4.8
2025-10-080
OAAI
Fernanda Fortunato; Laura Fiocco; Alice Margutti; Marcella Neri; Adele D’Amico; Enrico Bertini; Enzo Ricci; Eugenio Maria Mercuri; Marika Pane; Roberto Massa; Giulia Greco; Angela Lucia Berardinelli; Cristina Cereda; Antonella Pini; Luciano Merlini; Carlo Fusco; Carmelo Rodolico; Sonia Messina; Chiara Fiorillo; Claudio Bruno; Marina Pedemonte; Monica Traverso; Isabella Moroni; Lorenzo Maggi; Sara Gibertini; Elena Pegoraro; Esther Picillo; Luisa Politano; Marianna Scutifero; Fabiana Vercellino; Francesca Massaro; Massimiliano Filosto; Paolo Gasparini; Federica Ricci; Tiziana Enrica Mongini; Rita Selvatici; Alessandra Ferlini; Francesca Gualandi
Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

致纤维化分子在CRISPR编辑的Emery–Dreifuss肌营养不良成纤维细胞中减少

Cells 2025, Vol. 14, Page 1321
IF5.2
2025-08-270
OA
Eleonora Cattin; Elisa Schena; Elisabetta Mattioli; Stefania Marcuzzo; Silvia Bonanno; Paola Cavalcante; Federico Corradi; Daniela Benati; Giorgia Farinazzo; Marco Cattaneo; Veronica De Sanctis; Roberto Bertorelli; Lorenzo Maggi; Melania Giannotta; Antonella Pini; Gaetano Vattemi; Denise Cassandrini; Marco Cavallo; Cristina Manferdini; Gina Lisignoli; Beatrice Fontana; Ilaria Pace; Claudio Bruno; Roberta Roncarati; Chiara Fiorillo; Manuela Ferracin; Eric C. Schirmer; Alessandra Recchia; Giovanna Lattanzi
Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

1型强直性肌营养不良儿童报告的睡眠障碍与行为问题之间的关联-意大利回顾性分析的结果

JOURNAL OF CLINICAL MEDICINE
IF2.9
2024-09-140
OAAI
Trucco, Federica; Lizio, Andrea; Roma, Elisabetta; di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Casiraghi, Jacopo; Pozzi, Susanna; Becchiati, Stefano; Antonaci, Laura; Salvalaggio, Anna; Catteruccia, Michela; Tosi, Michele; Marinella, Gemma; Danti, Federica R.; Bruschi, Fabio; Veneruso, Marco; Parravicini, Stefano; Fiorillo, Chiara; Berardinelli, Angela; Pini, Antonella; Moroni, Isabella; Astrea, Guja; Battini, Roberta; D'Amico, Adele; Ricci, Federica; Pane, Marika; Mercuri, Eugenio M.; Johnson, Nicholas E.; Sansone, Valeria A.
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
PEDIATRIC NEUROLOGY
IF2.1
2024-05-011
PRE
Geroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders

PLAA相关神经发育障碍中的等位基因异质性和异常囊泡回收

FRONTIERS IN MOLECULAR NEUROSCIENCE
IF3.8
2024-04-080
OAAI
Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W.; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation
NATURE COMMUNICATIONS
IF15.7
2024-01-082
OAAI
Accogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
IF3.2
2023-11-132
OAAI
Geroldi, Alessandro; Tozza, Stefano; Fiorillo, Chiara; Nolano, Maria; Fossa, Paola; Vitale, Floriana; Domi, Regi; Gaudio, Andrea; Mammi, Alessia; Patrone, Serena; La Barbera, Andrea; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Zara, Federico; Cataldi, Matteo; Salpietro, Vincenzo; Venturi, Consuelo Barbara; Massucco, Sara; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Bellone, Emilia; Gotta, Fabio
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2023-10-1911
OA
Cardone, Nastasia; Taglietti, Valentina; Baratto, Serena; Kefi, Kaouthar; Periou, Baptiste; Gitiaux, Ciryl; Barnerias, Christine; Lafuste, Peggy; Pharm, France Leturcq; Pharm, Juliette Nectoux; Panicucci, Chiara; Desguerre, Isabelle; Bruno, Claudio; Authier, Francois-Jerome; Fiorillo, Chiara; Relaix, Frederic; Malfatti, Edoardo
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2023-03-213
OAAI
Cardone, Nastasia; Moula, Melissa; Baelde, Rianne J.; Biquand, Ariane; Villanova, Marcello; Metay, Corinne; Fiorillo, Chiara; Baratto, Serena; Merlini, Luciano; Sabatelli, Patrizia; Romero, Norma B.; Relaix, Frederic; Authier, Francois Jerome; Taglietti, Valentina; Savarese, Marco; de Winter, Josine; Ottenheijm, Coen; Richard, Isabelle; Malfatti, Edoardo
Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophy
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2023-03-0117
PRE
Taglietti, Valentina; Kefi, Kaouthar; Rivera, Lea; Bergiers, Oriane; Cardone, Nastasia; Coulpier, Fanny; Gioftsidi, Stamatia; Drayton-Libotte, Bernadette; Hou, Cyrielle; Authier, Francois-JeromE; Pietri-Rouxel, France; Robert, Matthieu; Bremond-Gignac, Dominique; Bruno, Claudio; Fiorillo, Chiara; Malfatti, Edoardo; Lafuste, Peggy; Tiret, Laurent; Relaix, Frederic
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2022-12-1717
OA
Ranu, Natasha; Laitila, Jenni; Dugdale, Hannah F.; Mariano, Jennifer; Kolb, Justin S.; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Fiorillo, Chiara; Zanoteli, Edmar; Auranen, Mari; Jokela, Manu; Tasca, Giorgio; Claeys, Kristl G.; Voermans, Nicol C.; Palmio, Johanna; Huovinen, Sanna; Moggio, Maurizio; Beck, Thomas Nyegaard; Kontrogianni-Konstantopoulos, Aikaterini; Granzier, Henk; Ochala, Julien

研究方向

暂未获取到该数据
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