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

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8

由MT-ATP6和MT-ATP8致病变异引起的线粒体ATPase缺乏症患者的自然病程

Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report

WDR45相关性脑病,表现为类似Leigh综合征的复合体I缺乏症:病例报告

Ferrera, Giulia; Derderian, Kevork; Izzo, Rossella; Gnutti, Barbara; Legati, Andrea; Zorzi, Giovanna; Lamantea, Eleonora; Iuso, Arcangela; Ardissone, Anna

A conserved Chlamydiota-specific Type III Secretion System effector linked to stress response

衣原体特异性保守的III型分泌系统效应蛋白与应激反应相关

Kozusnik, Thomas; Kebbi-Beghdadi, Carole; Ardissone, Silvia; Adams, Simone E; Greub, Gilbert

Intrafamilial Variability in WARS2-Related Disorder: A Family Case

WARS2相关疾病的家族内变异:一个家族病例

Graziola, Federica; Danti, Federica Rachele; Segre, Giorgia; Fregonese, Morgana; Izzo, Rossella; Lamantea, Eleonora; Ghezzi, Daniele; Ardissone, Anna; Zorzi, Giovanna

Arginase 1 deficiency: a treatable form of spastic paraplegia

精氨酸酶 1 缺乏症:一种可治疗的痉挛性截瘫

Burlina, Alessandro; Ardissone, Anna; Battini, Roberta; Burlina, Alberto; Gasperini, Serena; Pession, Andrea; Porta, Francesco; Vici, Carlo Dionisi

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature

线粒体氨酰tRNA合成酶缺陷的氨基酸补充治疗:两例YARS2相关疾病酪氨酸补充治疗的病例报告及文献综述

Ferrera, Giulia; Segre, Giorgia; Lamantea, Eleonora; Ghezzi, Daniele; Rivelli, Marta; Ardissone, Anna

The Chlamydia-related Waddlia chondrophila encodes functional type II toxin-antitoxin systems

衣原体相关的 Waddlia chondrophila 编码功能性 II 型毒素-抗毒素系统

Silvia Ardissone, Gilbert Greub

Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group

原发性线粒体疾病患者癫痫发作的管理:InterERNs 线粒体工作组共识声明

Mancuso, Michelangelo; Papadopoulou, Maria T; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N; O'Callaghan, Mar; Pressler, Ronit M; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Gráinne S; Cross, J Helen; Rahman, Shamima

Adaptive β-lactam resistance from an inducible efflux pump that is post-translationally regulated by the DjlA co-chaperone

适应性β-内酰胺类抗生素耐药性源于一种可诱导的外排泵,该外排泵受DjlA辅助伴侣蛋白的翻译后调控。

Costafrolaz, Jordan; Panis, Gaël; Casu, Bastien; Ardissone, Silvia; Degeorges, Laurence; Pilhofer, Martin; Viollier, Patrick H

Temperature Affects the Host Range of Rhabdochlamydia porcellionis

温度影响 Rhabdochlamydia porcellionis 的寄主范围

Bastian Marquis, Silvia Ardissone, Gilbert Greub