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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review

与 COL12A1 相关的肌病型埃勒斯-当洛斯综合征 (mEDS):两个新发现的家族及文献综述

Merlini, Luciano; Sabatelli, Patrizia; Cenni, Vittoria; Zanobio, Mariateresa; Di Martino, Alberto; Traina, Francesco; Faldini, Cesare; Nigro, Vincenzo; Torella, Annalaura

Recurrent CAPN3 p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity

复发性 CAPN3 p.Asp753Asn 变异支持一种潜在的显性钙蛋白酶病,其临床表现具有多样性。

D'Este, Giorgia; Giorgetti, Alejandro; Cassandrini, Denise; Magri, Francesca; Ronchi, Dario; Rubegni, Anna; Lopergolo, Diego; Malandrini, Alessandro; Merlini, Luciano; Vattemi, Gaetano; Tonin, Paola; Barresi, Rita

Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential

胶原蛋白VI相关肌病中的肌腱功能障碍:具有治疗潜力的全新机制见解

Sabatelli, Patrizia; Di Martino, Alberto; Faldini, Cesare; Bonaldo, Paolo; Merlini, Luciano; Cenni, Vittoria

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

一项针对患有VI型胶原蛋白相关肌病的大型意大利队列的COL6A1、COL6A2和COL6A3致病变异的全国性报告

Fortunato, Fernanda; Fiocco, Laura; Margutti, Alice; Neri, Marcella; D'Amico, Adele; Bertini, Enrico; Ricci, Enzo; Mercuri, Eugenio Maria; Pane, Marika; Massa, Roberto; Greco, Giulia; Berardinelli, Angela Lucia; Cereda, Cristina; Pini, Antonella; Merlini, Luciano; Fusco, Carlo; Rodolico, Carmelo; Messina, Sonia; Fiorillo, Chiara; Bruno, Claudio; Pedemonte, Marina; Traverso, Monica; Moroni, Isabella; Maggi, Lorenzo; Gibertini, Sara; Pegoraro, Elena; Picillo, Esther; Politano, Luisa; Scutifero, Marianna; Vercellino, Fabiana; Massaro, Francesca; Filosto, Massimiliano; Gasparini, Paolo; Ricci, Federica; Mongini, Tiziana Enrica; Selvatici, Rita; Ferlini, Alessandra; Gualandi, Francesca

Collagen VI Deficiency Impairs Tendon Fibroblasts Mechanoresponse in Ullrich Congenital Muscular Dystrophy

胶原蛋白VI缺乏会损害乌尔里希先天性肌营养不良症患者的肌腱成纤维细胞机械反应

Cenni, Vittoria; Sabatelli, Patrizia; Di Martino, Alberto; Merlini, Luciano; Antoniel, Manuela; Squarzoni, Stefano; Neri, Simona; Santi, Spartaco; Metti, Samuele; Bonaldo, Paolo; Faldini, Cesare

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts

CRISPR编辑的Ullrich先天性肌营养不良症成纤维细胞细胞外基质中胶原蛋白VI微丝网络的恢复

Benati, Daniela; Cattin, Eleonora; Corradi, Federico; Ferrari, Tommaso; Pedrazzoli, Eleonora; Patrizi, Clarissa; Marchionni, Matteo; Bertorelli, Roberto; De Sanctis, Veronica; Merlini, Luciano; Ferlini, Alessandra; Sabatelli, Patrizia; Gualandi, Francesca; Recchia, Alessandra

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

SEPN1相关肌病的临床、组织学和基因型谱:病例系列研究

Villar-Quiles, Rocio N; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lütschg, Jürg; Malfatti, Edoardo; Mayer, Michèle; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B; Fardeau, Michel; Bönnemann, Carsten G; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana

Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles

先天性肌营养不良症相关的炎症趋化因子为将治疗性成体干细胞有效募集到肌肉组织提供了途径。

Alexeev, Vitali; Olavarria, Jacquelyn; Bonaldo, Paolo; Merlini, Luciano; Igoucheva, Olga