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

Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort

加深对肌酸转运蛋白缺乏症的临床认识:意大利队列研究的长期结果和新发现

Alessandrì, Maria Grazia; Bosetti, Chiara; Scaffei, Elena; Casalini, Claudia; Balestrini, Simona; Tramacere, Luciana; Ambrosi, Pierfrancesco; Tosetti, Michela; Guerrini, Renzo; Battini, Roberta

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

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease

FDX2基因中的一种新突变为MEOAL线粒体神经肌肉疾病的发病机制提供了新的见解

Doni, Davide; Grifagni, Deborah; Cavion, Federica; Buchignani, Bianca; Battini, Roberta; Baschiera, Elisa; Desbats, Maria Andrea; Pasquariello, Rosa; Covello, Giuseppina; De Pascale, Eva; Boarolo, Alice; Cestonaro, Ilaria; Badocco, Denis; Pastore, Paolo; Sartori, Geppo; Stehling, Oliver; Lill, Roland; Santorelli, Filippo M; Salviati, Leonardo; Ciofi-Baffoni, Simone; Costantini, Paola

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease

遗传性和非遗传性帕金森病中的线粒体功能障碍

Lucchesi, Martina; Biso, Letizia; Bonaso, Marco; Longoni, Biancamaria; Buchignani, Bianca; Battini, Roberta; Santorelli, Filippo Maria; Doccini, Stefano; Scarselli, Marco

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

通过外显子组数据重新分析检测到的致病性隐匿变异显著提高了Joubert综合征的诊断率。

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function?

fNIRS作为X连锁神经发育障碍的生物标志物:利用视觉处理来评估大脑功能?

Scaffei, Elena; Bosetti, Chiara; Battini, Roberta; Fagiolini, Michela; Baroncelli, Laura

Screening of Neurodevelopmental and Psychiatric Disorders in School-Aged Children from Sahrawi Refugee Camp: A Cross-Sectional Observational Study

对撒哈拉难民营学龄儿童进行神经发育和精神障碍筛查:一项横断面观察研究

Accorinti, Ilaria; Bonezzi, Linda; Sesso, Gianluca; Pipino, Simona; Pignatelli, Francesca; De Angelis, Alessandra; Milone, Annarita; Battini, Roberta

Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series

胍基乙酸N-甲基转移酶缺乏症的动态电生理临床特征:一个家族病例系列

Schifino, Mariapaola; Bartolini, Emanuele; Pagano, Stefano; Meossi, Camilla; Pasquariello, Rosa; Battini, Roberta