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

Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task

通过口头叙述任务评估神经肌肉疾病儿童的内部状态

Cristofani, Paola; Ruffini, Costanza; Buchignani, Bianca; Astrea, Guja; Noli, Bianca; Magozzi, Benedetta; Pecini, Chiara; Battini, Roberta

Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports

Marinesco-Sjögren综合征的肌肉影像学方法:系统性综述和两份新的临床报告

Buchignani, Bianca; Vega, Giada; Pasquariello, Rosa; Marinella, Gemma; Tosetti, Michela; Astrea, Guja; Battini, Roberta

We have the evidence but governments must now build the systems to deliver on hand hygiene

我们已经掌握了证据,但各国政府现在必须建立相应的系统来落实手部卫生措施。

Esteves Mills, Joanna; Gordon, Bruce; Denny, Lindsay; Thomas, Ann; Cole, Arnold Oredola; Lee-Llacer, Andrea; Hickling, Sophie; Ababu, Alemu Kejela; Kwakye, Akosua; Mohamed, Alyaa; Palomares, Aarin; Paynter, Nathaniel; Prasad-Gautam, Om; Shrestha, Siddhi; Kalubula, Precious; Caruso, Bethany A; Freeman, Matthew C; Wolfe, Marlene K; Panthi, Sudan Raj; Balane, Marysol Astrea Liwanag; Villasenor, Jon Michael; Bartolomeus, Kidist; Eshofonie, Anthony; Magtibay, Bonifacio; Bouare, Sory; Doumbia, Doussou; Nkosha, Kachusha; Ojha, Rajit; Abaidoo, Suzzy; Kutane, Waltaji; Toure, Mahamane; Sangare, Issaka; Limbu, Sanjani; Kabir, Ahammadul; Ranjouria, Seema; Mulemba, Doreen; Alzubaidy, Suzan; Kokshagina, Olga; Heiss, Leah; Minelli, Elisabetta; Nachinab, Charles; Cumming, Oliver

Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1

父母诊断延迟与先天性和儿童期发病的1型强直性肌营养不良症的发育结果

Trucco, Federica; Albamonte, Emilio; Pane, Marika; Ricci, Federica; D'amico, Adele; Astrea, Guja; Moroni, Isabella; Pini, Antonella; Fiorillo, Chiara; Berardinelli, Angela; Johnson, Nicholas E; Sansone, Valeria A

Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm

儿童迟发型庞贝病:一项针对38名意大利患者的全国性调查结果及针对性诊断算法的提出

Spada, Marco; Gasperini, Serena; Filosto, Massimiliano; Astrea, Guja; Bracci, Beatrice; Bruno, Claudio; Burlina, Alberto; Cavallini, Anna; Concolino, Daniela; Crescitelli, Viola; D'Amico, Adele; Deodato, Federica; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fischetto, Rita; Fiumara, Agata; Furlan, Francesca; Gragnaniello, Vincenza; Mala, Damiano; Marica, Monica; Menni, Francesca; Pagliardini, Veronica; Panicucci, Claudia; Parenti, Giancarlo; Pession, Andrea; Ricci, Federica; Rovelli, Valentina; Sacchini, Michele; Santorelli, Filippo Maria; Santoro, Lucia; Scarpa, Maurizio; Taurisano, Roberta; Tummolo, Albina; Porta, Francesco

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study

扩展与 PACS1 中 Arg203Trp 复发性变异相关的临床谱:一项意大利队列研究

Pagano, Stefano; Lopergolo, Diego; De Falco, Alessandro; Meossi, Camilla; Satolli, Sara; Pasquariello, Rosa; Trovato, Rosanna; Tessa, Alessandra; Casalini, Claudia; Pfanner, Lucia; Astrea, Guja; Battini, Roberta; Santorelli, Filippo M

Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy

意大利肌病学会对阿塔卢伦治疗无义突变杜氏肌营养不良症的意见

Bello, Luca; Riguzzi, Pietro; Albamonte, Emilio; Astrea, Guja; Battini, Roberta; Barp, Andrea; Berardinelli, Angela L; Bertini, Enrico S; Brolatti, Noemi; Bruno, Claudio; Corti, Stefania; D'Amico, Adele; D'Angelo, Maria Grazia; Dallavalle, Gianfranco; Liguori, Rocco; Maggi, Lorenzo; Magri, Francesca; Mancuso, Michelangelo; Masson, Riccardo; Mercuri, Eugenio; Minetti, Carlo; Messina, Sonia; Mongini, Tiziana; Musumeci, Olimpia; Nigro, Vincenzo; Pane, Marika; Panicucci, Chiara; Pedemonte, Marina; Pini, Antonella; Politano, Luisa; Previtali, Stefano; Ricci, Federica; Ricci, Giulia; Ruggiero, Lucia; Sansone, Valeria; Siciliano, Gabriele; Trabacca, Antonio; Trucco, Federica; Velardo, Daniele; Pegoraro, Elena; Comi, Giacomo P

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency

结构重排是SETBP1单倍体功能不全的常见致病机制

Alesi, V; Genovese, S; Roberti, M C; Sallicandro, E; Di Tommaso, S; Loddo, S; Orlando, V; Pompili, D; Calacci, C; Mei, V; Pisaneschi, E; Faggiano, M V; Morgia, A; Mammì, C; Astrea, G; Battini, R; Priolo, M; Dentici, M L; Milone, R; Novelli, A

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy

意大利一项回顾性分析显示,1型强直性肌营养不良症患儿的睡眠障碍与行为问题之间存在关联。

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

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy

HINT1相关轴突神经病变中的小型复杂重排

Tessa, Alessandra; Schifino, Mariapaola; Salvo, Eliana; Trovato, Rosanna; Cesana, Luca; Frosini, Silvia; Pasquariello, Rosa; Sgherri, Giada; Battini, Roberta; Bonaglia, Maria Clara; Santorelli, Filippo Maria; Astrea, Guja