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

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

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases

新型TOP3A变异体与线粒体疾病相关:拓展拓扑异构酶IIIα相关疾病的临床谱

Primiano, Guido; Torraco, Alessandra; Verrigni, Daniela; Sabino, Andrea; Bertini, Enrico; Carrozzo, Rosalba; Silvestri, Gabriella; Servidei, Serenella

Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation

新的 NDUFA12 变异与单独的复合物 I 缺陷和可变的临床表现相关

Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza, Michela Di Nottia, Federica Invernizzi, Eleonora Lamantea, Daniela Longo, Henry Houlden, Holger Prokisch, Agnès Rötig, Carlo Dionis

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

意大利尼曼-匹克 C 型疾病的分子遗传学:105 名患者的最新情况和 18 种 NPC1 新变异的描述

Andrea Dardis, Stefania Zampieri, Cinzia Gellera, Rosalba Carrozzo, Silvia Cattarossi, Paolo Peruzzo, Rosalia Dariol, Annalisa Sechi, Federica Deodato, Claudio Caccia, Daniela Verrigni, Serena Gasperini, Agata Fiumara, Simona Fecarotta, Miryam Carecchio, Massimiliano Filosto, Lucia Santoro, Barbara

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

与肥厚型心肌病相关的ELAC2基因突变会损害线粒体tRNA 3'端加工。

Saoura, Makenzie; Powell, Christopher A; Kopajtich, Robert; Alahmad, Ahmad; Al-Balool, Haya H; Albash, Buthaina; Alfadhel, Majid; Alston, Charlotte L; Bertini, Enrico; Bonnen, Penelope E; Bratkovic, Drago; Carrozzo, Rosalba; Donati, Maria A; Di Nottia, Michela; Ghezzi, Daniele; Goldstein, Amy; Haan, Eric; Horvath, Rita; Hughes, Joanne; Invernizzi, Federica; Lamantea, Eleonora; Lucas, Benjamin; Pinnock, Kyla-Gaye; Pujantell, Maria; Rahman, Shamima; Rebelo-Guiomar, Pedro; Santra, Saikat; Verrigni, Daniela; McFarland, Robert; Prokisch, Holger; Taylor, Robert W; Levinger, Louis; Minczuk, Michal

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

先天性白内障和青光眼伴神经肌病:一种由POLG变异引起的独特综合征

Castiglioni, Claudia; Fattori, Fabiana; Udd, Bjarne; de Los Angeles Avaria, Maria; Suarez, Bernardita; D'Amico, Adele; Malandrini, Alessandro; Carrozzo, Rosalba; Verrigni, Daniela; Bertini, Enrico; Tasca, Giorgio

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

婴儿期白质营养不良患者的 ISCA1 突变导致线粒体 [4Fe-4S] 蛋白缺陷

Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia, Daria Diodato, Diego Martinelli, Fiorella Piemonte, Carlo Dionisi-Vici, Enrico Bertini, Roland Lill, Rosalba Carrozzo

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

通过外显子组测序和mRNA分析揭示了NDUFAF6基因中的复合杂合错义变异和深内含子变异。

Catania, Alessia; Ardissone, Anna; Verrigni, Daniela; Legati, Andrea; Reyes, Aurelio; Lamantea, Eleonora; Diodato, Daria; Tonduti, Davide; Imperatore, Valentina; Pinto, Anna Maria; Moroni, Isabella; Bertini, Enrico; Robinson, Alan; Carrozzo, Rosalba; Zeviani, Massimo; Ghezzi, Daniele

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

线粒体延长因子 EF-Tu 的新突变与发育不良性白质脑病和线粒体 DNA 翻译缺陷有关

Michela Di Nottia, Arianna Montanari, Daniela Verrigni, Romina Oliva, Alessandra Torraco, Erika Fernandez-Vizarra, Daria Diodato, Teresa Rizza, Marzia Bianchi, Michela Catteruccia, Massimo Zeviani, Carlo Dionisi-Vici, Silvia Francisci, Enrico Bertini, Rosalba Carrozzo