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

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

"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

Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome

先天性变异型雷特综合征患者出现通气不足和睡眠高碳酸血症

Ghirardo, Sergio; Sabatini, Letizia; Onofri, Alessandro; Testa, Maria Beatrice Chiarini; Paglietti, Maria Giovanna; Diodato, Daria; Travaglini, Lorena; Stregapede, Fabrizia; Ciofi Degli Atti, Marta Luisa; Cherchi, Claudio; Cutrera, Renato

Expanding the Clinical and Mutational Spectrum of the PLP1-Related Hypomyelination of Early Myelinated Structures (HEMS)

扩展与 PLP1 相关的早期髓鞘结构髓鞘形成不足 (HEMS) 的临床和突变谱

Nicita, Francesco; Aiello, Chiara; Vasco, Gessica; Valeriani, Massimiliano; Stregapede, Fabrizia; Sancesario, Andrea; Armando, Michela; Bertini, Enrico

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine

非进行性先天性共济失调和癫痫患者的新型 KCNA2 变异:功能特征和对 4-氨基吡啶的敏感性

Paola Imbrici, Elena Conte, Rikard Blunck, Fabrizia Stregapede, Antonella Liantonio, Michele Tosi, Maria Cristina D'Adamo, Annamaria De Luca, Vesna Brankovic, Ginevra Zanni

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

阵发性运动障碍和发作性共济失调的临床和遗传学概述

Garone, Giacomo; Capuano, Alessandro; Travaglini, Lorena; Graziola, Federica; Stregapede, Fabrizia; Zanni, Ginevra; Vigevano, Federico; Bertini, Enrico; Nicita, Francesco

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

线粒体和过氧化物酶体的改变导致核黄素转运蛋白缺乏症的能量代谢异常

Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

针对儿童期起病运动障碍的靶向二代测序基因panel的诊断率:一项为期3年的队列研究

Graziola, Federica; Garone, Giacomo; Stregapede, Fabrizia; Bosco, Luca; Vigevano, Federico; Curatolo, Paolo; Bertini, Enrico; Travaglini, Lorena; Capuano, Alessandro