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

Structure-based modeling reveals molecular basis for CYP153A6's novel activity toward toluene derivatives

基于结构的建模揭示了CYP153A6对甲苯衍生物新型活性的分子基础

Wei, Yao; Donzella, Silvia; Foiadelli, Sara; Molinari, Francesco; Guerrini, Uliano; Eberini, Ivano

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

致病性GABRG2功能丧失和功能获得变异个体的表型谱

Rossi, Alessandra; Lin, Susan X N; Absalom, Nathan L; Ortiz-De la Rosa, Sebastian; Liao, Vivian W Y; Mohammadi, Nazanin A; Viswanathan, Sindhu; Stödberg, Tommy; Danieli, Alberto; Bonanni, Paolo; Aeby, Alec; Orsini, Alessandro; Bonuccelli, Alice; Rüegger, Andrea; Giraldez, Beatriz G; Isidor, Bertrand; Stüve, Burkhard; Marini, Carla; Cesaroni, Elisabetta; Fenger, Christina D; Philippe, Christophe; Meunier, Colombine; Lederer, Damien; Moortgat, Stéphanie; Spinelli, Egidio; Fallica, Elisa; Zeiner, Fiona; Bauman, Matthias; Licchetta, Laura; Bisulli, Francesca; Operto, Francesca F; Benkel-Herrenbrueck, Ira; Gorman, Kathleen M; Johannesen, Katrine M; Platzer, Konrad; Schnabel, Franziska; Lagae, Lieven; Laufs, Mirjam; Zordania, Riina; Malone, Stephen; Messana, Tullio; Werckx, Wendy; Jonsson, Charlotta; Afawi, Zaid; Foiadelli, Thomas; Halleb, Yosra; Stoeva, Radka; Jennesson-Lyver, Mélanie; Lesca, Gaetan; Guerrini, Renzo; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Møller, Rikke S; Rubboli, Guido; Ahring, Philip K

Enterovirus A-71 Associated Parainfectious Movement Disorders in Children

儿童肠道病毒A-71相关副感染性运动障碍

van Noort, Suus A M; Elting, Jan Willem J; Foiadelli, Thomas; Peters, Petra J J S; Nicolai, Joost; Tijssen, Marina A J; Helfferich, Jelte

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report

CDKL5 发育性癫痫性脑病早期发育干预和丰富环境:病例报告

Perinelli, Martina Giorgia; Naboni, Cecilia; Balagura, Ganna; Amadori, Elisabetta; Vari, Maria Stella; Capra, Valeria; Lentoiou, Camelia; Foiadelli, Thomas; Sirchia, Fabio; Luparia, Antonella; Marseglia, Gianluigi; Ramenghi, Luca A; Striano, Pasquale

Best practices for the management of febrile seizures in children

儿童热性惊厥的最佳管理实践

Ferretti, Alessandro; Riva, Antonella; Fabrizio, Alice; Bruni, Oliviero; Capovilla, Giuseppe; Foiadelli, Thomas; Orsini, Alessandro; Raucci, Umberto; Romeo, Antonino; Striano, Pasquale; Parisi, Pasquale

Expanding the Spectrum of Autosomal Dominant ATP6V1A-Related Disease: Case Report and Literature Review

拓展常染色体显性遗传ATP6V1A相关疾病谱:病例报告及文献综述

Sirchia, Fabio; Taietti, Ivan; Donesana, Myriam; Bassanese, Francesco; Clemente, Andrea Martina; Barbato, Eliana; Orsini, Alessandro; Ferretti, Alessandro; Marseglia, Gian Luigi; Savasta, Salvatore; Foiadelli, Thomas

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review

极其罕见的 AP-4 和 ERF 突变混合表型:儿科患者首例报告及文献综述

Alessandro Orsini, Andrea Santangelo, Alessandra Carmignani, Anna Camporeale, Francesco Massart, Nina Tyutyusheva, Diego Giampietro Peroni, Thomas Foiadelli, Alessandro Ferretti, Benedetta Toschi, Silvia Romano, Alice Bonuccelli

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

早期免疫疗法和更长时间的皮质类固醇治疗与儿童MOGAD疾病复发风险降低相关。

Nosadini, Margherita; Eyre, Michael; Giacomini, Thea; Valeriani, Massimiliano; Della Corte, Marida; Praticò, Andrea D; Annovazzi, Pietro; Cordani, Ramona; Cordelli, Duccio Maria; Crichiutti, Giovanni; Di Rosa, Gabriella; Dolcemascolo, Valentina; Fetta, Anna; Freri, Elena; Gallo, Paolo; Gastaldi, Matteo; Granata, Tiziana; Grazian, Luisa; Iorio, Raffaele; Lombardini, Martina; Margoni, Monica; Mariotto, Sara; Matricardi, Sara; Melani, Federico; Nardocci, Nardo; Papetti, Laura; Passarini, Alice; Pisani, Francesco; Po', Chiara; Puthenparampil, Marco; Ragona, Francesca; Savasta, Salvatore; Siliquini, Sabrina; Toldo, Irene; Tozzo, Alessandra; Turco, Emanuela Claudia; Varone, Antonio; Vogrig, Alberto; Zuliani, Luigi; Bugin, Samuela; Rossato, Sara; Orsini, Alessandro; Cantalupo, Gaetano; Mancardi, Maria Margherita; Ferilli, Michela Ada Noris; Foiadelli, Thomas; Sartori, Stefano

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

对首批33名意大利低磷酸酯酶症患者进行临床和分子描述

Cinque, Luigia; Pugliese, Flavia; Salcuni, Antonio Stefano; Trombetta, Domenico; Battista, Claudia; Biagini, Tommaso; Augello, Bartolomeo; Nardella, Grazia; Conti, Francesco; Corbetta, Sabrina; Fischetto, Rita; Foiadelli, Thomas; Gaudio, Agostino; Giannini, Cosimo; Grosso, Enrico; Guabello, Gregorio; Massuras, Stefania; Palermo, Andrea; Politano, Luisa; Pigliaru, Francesca; Ruggeri, Rosaria Maddalena; Scarano, Emanuela; Vicchio, Piera; Cannavò, Salvatore; Celli, Mauro; Petrizzelli, Francesco; Mastroianno, Mario; Castori, Marco; Scillitani, Alfredo; Guarnieri, Vito

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype

KIRREL3相关疾病:一例病例报告,证实了放射学特征,并将临床表现扩展到较轻的表型

Querzani, Andrea; Sirchia, Fabio; Rustioni, Gianluca; Rossi, Alessandra; Orsini, Alessandro; Marseglia, Gian Luigi; Savasta, Salvatore; Chiapparini, Luisa; Foiadelli, Thomas