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

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

Reliability of Rapid On-Site Evaluation Achieved by Remote Sharing Systems (E-ROSE) and AI Algorithms (AI-ROSE) Compared With the Gold Standard in the Diagnosis of Lung Cancer

远程共享系统(E-ROSE)和人工智能算法(AI-ROSE)实现的快速现场评估与肺癌诊断金标准相比的可靠性

Tondo, Pasquale; Palmiotti, Giuseppe Antonio; D'Alagni, Giancarlo; Campanino, Terence; Scioscia, Giulia; Inglese, Francesco; Giua, Renato; Monteleone, Leonardo; Colanardi, Maria Cristina; Ciliberti, Gianluca Libero; Leone, Armando; Notaristefano, Antonio; Torraco, Ruggiero; Napoli, Grazia; Marangi, Grazia; Pirrelli, Michele; Foschino Barbaro, Maria Pia; Gallo, Crescenzio; Lacedonia, Donato

Meta-Analysis of 16S rRNA Sequencing Reveals Altered Fecal but Not Vaginal Microbial Composition and Function in Women with Endometriosis

16S rRNA测序荟萃分析揭示子宫内膜异位症女性粪便微生物组成和功能改变,但阴道微生物组成和功能未改变

Torraco, Astrid; Di Nicolantonio, Sara; Cardisciani, Martina; Ortu, Eleonora; Pietropaoli, Davide; Altamura, Serena; Del Pinto, Rita

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease

对NDUFAF6在复合物I组装和线粒体疾病中的系统分析

Andrew Y Sung ,Rachel M Guerra ,Laura H Steenberge ,Charlotte L Alston ,Kei Murayama ,Yasushi Okazaki ,Masaru Shimura ,Holger Prokisch ,Daniele Ghezzi ,Alessandra Torraco ,Rosalba Carrozzo ,Agnès Rötig ,Robert W Taylor ,James L Keck ,David J Pagliarini

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

一名患有脑病、心肌病和致命性非癫痫性阵发性难治性呕吐的患者发现新生DNM1L突变

Berti, Beatrice; Verrigni, Daniela; Nasca, Alessia; Di Nottia, Michela; Leone, Daniela; Torraco, Alessandra; Rizza, Teresa; Bellacchio, Emanuele; Legati, Andrea; Palermo, Concetta; Marchet, Silvia; Lamperti, Costanza; Novelli, Antonio; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Pane, Marika; Ghezzi, Daniele; Carrozzo, Rosalba

Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome

GTPBP3基因双等位基因变异:新患者、表型谱和预后

Nardecchia, Francesca; Carrozzo, Rosalba; Innocenti, Alice; Torraco, Alessandra; Zaccaria, Valerio; Rizza, Teresa; Pisani, Francesco; Bertini, Enrico; Leuzzi, Vincenzo

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

由OPA1基因新生突变引起的严重线粒体脑肌病

Di Nottia, Michela; Rizza, Teresa; Baruffini, Enrico; Nesti, Claudia; Torraco, Alessandra; Diodato, Daria; Martinelli, Diego; Dal Canto, Flavio; Gilea, Alexandru Ionut; Zoccola, Martina; Siri, Barbara; Dionisi-Vici, Carlo; Bertini, Enrico; Santorelli, Filippo Maria; Goffrini, Paola; Carrozzo, Rosalba

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

LETM1双等位基因变异会扰乱线粒体离子稳态,导致一系列临床表现,其中以神经系统受累为主。

Kaiyrzhanov, Rauan; Mohammed, Sami E M; Maroofian, Reza; Husain, Ralf A; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Grønborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, René G; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A; Bertini, Enrico Silvio; Ghezzi, Daniele; Østergaard, Elsebet; Wortmann, Saskia B; Carrozzo, Rosalba; Haack, Tobias B; Taylor, Robert W; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry

The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca2+-microdomains by tuning PMCA3 activity

与共济失调相关的 E1081Q 突变通过调节 PMCA3 活性来影响亚质膜 Ca2+ 微区

Francesca Vallese, Lorenzo Maso, Flavia Giamogante, Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Raffaele Lopreiato, Laura Cendron, Lorella Navazio, Ginevra Zanni, Yvonne Weber, Tatjana Kovacevic-Preradovic, Boris Keren, Alessandra Torraco, Rosalba Carrozzo, Francesco Peretto, Caterina Peggion, St

Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria

双等位基因 CLPB 突变与孤立性中性粒细胞减少症和 3-MGA 尿症相关

Rivalta, Beatrice; Torraco, Alessandra; Martinelli, Diego; Luciani, Matteo; Carrozzo, Rosalba; Finocchi, Andrea