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

Neurodevelopmental Disorder and Cortical Myoclonus in ZMYM2 Deficiency

ZMYM2 缺陷引起的神经发育障碍和皮质肌阵挛

Pollini, Luca; Novelli, Maria; Travaglini, Lorena; Panvino, Fabiola; Leuzzi, Vincenzo; Pisani, Francesco; Galosi, Serena

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation

SLC27A3基因的双等位基因变异会导致一种复杂的神经退行性疾病,并伴有脑铁沉积。

Travaglini, Lorena; Jeon, Cherim; Rizza, Teresa; Novelli, Antonio; Specchio, Nicola; Piluso, Anna; Bertini, Enrico; Iuso, Arcangela; Garone, Giacomo

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms

ERCC6相关科凯恩综合征(B型)的疾病谱:从轻度到重度

Sartorelli, Jacopo; Travaglini, Lorena; Macchiaiolo, Marina; Garone, Giacomo; Gonfiantini, Michaela Veronika; Vecchio, Davide; Sinibaldi, Lorenzo; Frascarelli, Flaminia; Ceccatelli, Viola; Petrillo, Sara; Piemonte, Fiorella; Piccolo, Gabriele; Novelli, Antonio; Longo, Daniela; Pro, Stefano; D'Amico, Adele; Bertini, Enrico Silvio; Nicita, Francesco

Case report: A novel mutation of glial fibrillary acidic protein gene causing juvenile-onset Alexander disease

病例报告:一种新的胶质纤维酸性蛋白基因突变导致青少年发病型亚历山大病

Romano, Carmela; Morena, Emanuele; Petrucci, Simona; Diamant, Selene; Marconi, Martina; Travaglini, Lorena; Zanni, Ginevra; Piane, Maria; Salvetti, Marco; Romano, Silvia; Ristori, Giovanni

Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder

HPDL相关疾病患者出现急性眼肌麻痹伴韦尼克脑病样MRI表现

Sartorelli, Jacopo; Longo, Daniela; Travaglini, Lorena; Orlando, Valeria; D'Amico, Adele; Bertini, Enrico; Nicita, Francesco

BCL11B-Related Dystonia: Further Evidence of an Emerging Cause of Childhood-Onset Generalized Dystonia

BCL11B相关肌张力障碍:儿童期发病全身性肌张力障碍新病因的进一步证据

Garone, Giacomo; Capuano, Alessandro; Amodio, Donato; Nicita, Francesco; Travaglini, Lorena; Graziola, Federica; De Benedictis, Alessandro; Frascarelli, Flaminia; Parisi, Pasquale; Pizzi, Simone; Tartaglia, Marco; Marras, Carlo Efisio; Niceta, Marcello

Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia-Telangiectasia Mutated Gene

与共济失调毛细血管扩张症突变基因低效变异相关的轻度神经系统表型

Caputi, Caterina; Federici, Giulia; Soddu, Silvia; Travaglini, Lorena; Piane, Maria; Bertini, Enrico; Zanni, Ginevra; Leuzzi, Vincenzo

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders

小脑上部萎缩:诊断ITPR1相关疾病的影像学线索

Romaniello, Romina; Pasca, Ludovica; Panzeri, Elena; D'Abrusco, Fulvio; Travaglini, Lorena; Serpieri, Valentina; Signorini, Sabrina; Aiello, Chiara; Bertini, Enrico; Bassi, Maria Teresa; Valente, Enza Maria; Zanni, Ginevra; Borgatti, Renato; Arrigoni, Filippo

"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

两名携带双等位基因 GALC 突变(包括一个深内含子变异)的兄弟姐妹患有“非典型”克拉伯病

Nicita, Francesco; Stregapede, Fabrizia; Deodato, Federica; Pizzi, Simone; Martinelli, Simone; Pagliara, Daria; Aiello, Chiara; Cumbo, Francesca; Piemonte, Fiorella; D'Amico, Jessica; Pro, Stefano; Longo, Daniela; Genovese, Silvia; Tartaglia, Marco; Escolar, Maria L; Bertini, Enrico; Travaglini, Lorena

Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report

新型SEPSECS致病变异株表现为伴有胼胝体变薄的复杂运动障碍的罕见表型:病例报告

Nicita, Francesco; Travaglini, Lorena; Bombelli, Francesco; Tosi, Michele; Pro, Stefano; Bertini, Enrico; D'Amico, Adele