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

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Multi-Layer PVA-PANI Conductive Hydrogel for Symmetrical Supercapacitors: Preparation and Characterization

用于对称超级电容器的多层PVA-PANI导电水凝胶:制备与表征

Giovagnoli, Angelica; D'Altri, Giada; Yeasmin, Lamyea; Di Matteo, Valentina; Scurti, Stefano; Di Filippo, Maria Francesca; Gualandi, Isacco; Cassani, Maria Cristina; Caretti, Daniele; Panzavolta, Silvia; Focarete, Maria Letizia; Rea, Mariangela; Ballarin, Barbara

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

数字健康和临床患者管理系统 (CPMS) 平台在神经肌肉疾病患者数据共享中的应用:意大利 EURO-NMD 的经验

Fortunato, Fernanda; Bianchi, Francesca; Ricci, Giulia; Torri, Francesca; Gualandi, Francesca; Neri, Marcella; Farnè, Marianna; Giannini, Fabio; Malandrini, Alessandro; Volpi, Nila; Lopergolo, Diego; Silani, Vincenzo; Ticozzi, Nicola; Verde, Federico; Pareyson, Davide; Fenu, Silvia; Bonanno, Silvia; Nigro, Vincenzo; Peduto, Cristina; D'Ambrosio, Paola; Zeuli, Roberta; Zanobio, Mariateresa; Picillo, Esther; Servidei, Serenella; Primiano, Guido; Sancricca, Cristina; Sciacco, Monica; Brusa, Roberta; Filosto, Massimiliano; Cotti Piccinelli, Stefano; Pegoraro, Elena; Mongini, Tiziana; Solero, Luca; Gadaleta, Giulio; Brusa, Chiara; Minetti, Carlo; Bruno, Claudio; Panicucci, Chiara; Sansone, Valeria A; Lunetta, Christian; Zanolini, Alice; Toscano, Antonio; Pugliese, Alessia; Nicocia, Giulia; Bertini, Enrico; Catteruccia, Michela; Diodato, Daria; Atalaia, Antonio; Evangelista, Teresinha; Siciliano, Gabriele; Ferlini, Alessandra

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

携带 COL6 基因新变异的 COL6 相关肌病患者的细胞外基质紊乱和肌膜改变

Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

Different Susceptibility of T and B Cells to Cladribine Depends On Their Levels of Deoxycytidine Kinase Activity Linked to Activation Status

细胞和 B 细胞对克拉屈滨的不同敏感性取决于其与活化状态相关的脱氧胞苷激酶活性水平

Federico Carlini, Federico Ivaldi, Francesca Gualandi, Ursula Boschert, Diego Centonze, Giuseppe Matarese, Marco Salvetti, Nicole Kerlero de Rosbo, Antonio Uccelli

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

DMD 尿道干细胞中的 RNA 测序识别了肌肉相关的转录特征,并通过全基因组测序解决了非典型突变的识别

Maria S Falzarano, Andrea Grilli, Silvia Zia, Mingyan Fang, Rachele Rossi, Francesca Gualandi, Paola Rimessi, Reem El Dani, Marina Fabris, Zhiyuan Lu, Wenyan Li, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Andrea Barp, Valeria A Sansone, Madhuri Hegde, Barbara Roda, Pierluigi Reschi

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases

尿液干细胞表达 571 种导致神经肌肉疾病的基因,使其成为罕见遗传病的潜在体外模型

Maria Sofia Falzarano, Rachele Rossi, Andrea Grilli, Mingyan Fang, Hana Osman, Patrizia Sabatelli, Manuela Antoniel, Zhiyuan Lu, Wenyan Li, Rita Selvatici, Cristina Al-Khalili, Francesca Gualandi, Silvio Bicciato, Silvia Torelli, Alessandra Ferlini

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients

在意大利患者中发现与布鲁格达综合征相关的 SCN5A 中两个新突变的功能特征

Cristina Balla, Elena Conte, Rita Selvatici, Renè Massimiliano Marsano, Andrea Gerbino, Marianna Farnè, Rikard Blunck, Francesco Vitali, Annarita Armaroli, Alessandro Brieda, Antonella Liantonio, Annamaria De Luca, Alessandra Ferlini, Claudio Rapezzi, Matteo Bertini, Francesca Gualandi, Paola Imbric

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

纯合隐性 Versican 错义变异与巴基斯坦家庭早期牙齿脱落有关

Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

深度 RNA 分析确定 CLOCK 和分子钟基因是胶原蛋白 VI 肌病的病理生理特征

Chiara Scotton, Matteo Bovolenta, Elena Schwartz, Maria Sofia Falzarano, Elena Martoni, Chiara Passarelli, Annarita Armaroli, Hana Osman, Carmelo Rodolico, Sonia Messina, Elena Pegoraro, Adele D'Amico, Enrico Bertini, Francesca Gualandi, Marcella Neri, Rita Selvatici, Patrizia Boffi, Maria Antoniett