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

ASAH2 deficiency affects sphingolipid homeostasis and neuromotor control, causing a progressive neurological disorder

ASAH2 缺乏症会影响鞘脂稳态和神经运动控制,导致进行性神经系统疾病。

Scala, Marcello; Sahu, Ranjan K; Severino, Mariasavina; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Santorelli, Filippo; Tozza, Stefano; Zara, Federico; Fiorillo, Chiara; Chung, Hyung-Lok

Treating juvenile dermatomyositis to target: Paediatric Rheumatology European Society/Childhood Arthritis and Rheumatology Research Alliance-endorsed recommendations from an international task force

治疗幼年皮肌炎的目标:儿科风湿病欧洲学会/儿童关节炎和风湿病研究联盟认可的国际工作组建议

Ravelli, Angelo; Rosina, Silvia; MacMahon, Jayne M; Baird, Talia; Rebollo-Giménez, Ana Isabel; Hinze, Claas; McCann, Liza J; Reed, Ann M; Rider, Lisa G; Arvigo, Matilde; Bader-Meunier, Brigitte; Bruno, Claudio; Caifeng, Li; Campanilho-Marques, Raquel; Cuccato, Sara; Fiorillo, Chiara; Hahn, Nikki A; Huber, Adam M; Jansen, Marc; Kasapcopur, Ozgur; Katsikas, Maria Martha; Kim, Susan; Livermore, Polly; Maillard, Sue; Malattia, Clara; Migowa, Angela Nyangore; Miyamae, Takako; Murphy, Ruth; Nicolai, Rebecca; Papadopoulou, Charalampia; Pilkington, Clarissa; Sanner, Helga; Sawhney, Sujata; Smolewska, Elzbieta; Tarvin, Stacey E; Tiller, Georgina; Toplak, Natasa; Wedderburn, Lucy R; Bovis, Francesca; Consolaro, Alessandro; Feldman, Brian M

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 变异体可导致脊柱僵硬综合征,在动物模型中可通过甲羟戊酸治疗治愈

Dofash Lein N H, Miles Lee B, Saito Yoshihiko, Rivas Eloy, Calcinotto Vanessa, Oveissi Sara, Serrano Rita J, Templin Rachel, Ramm Georg, Rodger Alison, Haywood Joel, Ingley Evan, Clayton Joshua S, Taylor Rhonda L, Folland Chiara L, Groth David, Hock Daniella H, Stroud David A, Gorokhova Svetlana, Donkervoort Sandra, Bönnemann Carsten G, Sud Malika, VanNoy Grace E, Mangilog Brian E, Pais Lynn, O'Donnell-Luria Anne, Madruga-Garrido Marcos, Scala Marcello, Fiorillo Chiara, Baratto Serena, Traverso Monica, Malfatti Edoardo, Bruno Claudio, Zara Federico, Paradas Carmen, Ogata Katsuhisa, Nishino Ichizo, Laing Nigel G, Bryson-Richardson Robert J, Cabrera-Serrano Macarena, Ravenscroft Gianina

Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.

CRISPR 编辑的埃默里-德雷福斯肌营养不良症成纤维细胞中促纤维化分子减少

Cattin Eleonora, Schena Elisa, Mattioli Elisabetta, Marcuzzo Stefania, Bonanno Silvia, Cavalcante Paola, Corradi Federico, Benati Daniela, Farinazzo Giorgia, Cattaneo Marco, De Sanctis Veronica, Bertorelli Roberto, Maggi Lorenzo, Giannotta Melania, Pini Antonella, Vattemi Gaetano, Cassandrini Denise, Cavallo Marco, Manferdini Cristina, Lisignoli Gina, Fontana Beatrice, Pace Ilaria, Bruno Claudio, Roncarati Roberta, Fiorillo Chiara, Ferracin Manuela, Schirmer Eric C, Recchia Alessandra, Lattanzi Giovanna

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

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility.

致病性 TNNT1 变异与细丝顺应性异常和肌纤维过度收缩有关

Laitila Jenni, Lewis Christopher T A, Hessel Anthony L, Primiano Guido, Hernandez-Lain Aurelio, Fiorillo Chiara, Lawlor Michael W, Ottenheijm Coen A C, Jungbluth Heinz, Man Ka Fu, Fornili Arianna, Ochala Julien

Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1

父母诊断延迟与先天性和儿童期发病的1型强直性肌营养不良症的发育结果

Trucco, Federica; Albamonte, Emilio; Pane, Marika; Ricci, Federica; D'amico, Adele; Astrea, Guja; Moroni, Isabella; Pini, Antonella; Fiorillo, Chiara; Berardinelli, Angela; Johnson, Nicholas E; Sansone, Valeria A

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies

早发性髓鞘蛋白零相关神经病的表型-基因型相关性

Laurini, Christian; Danti, Federica Rachele; Russo, Massimo; Tozza, Stefano; Massucco, Sara; Bertini, Alessandro; Pisciotta, Chiara; D'Arma, Federica; Gentile, Luca; Falzone, Yuri Matteo; Ratti, Adele; Catteruccia, Michela; Fiorillo, Chiara; Cicala, Gianpaolo; Luigetti, Marco; Magri, Stefania; Bellone, Emilia; Fabrizi, Gian Maria; Manganelli, Fiore; Grandis, Marina; Mazzeo, Anna; Pareyson, Davide; Moroni, Isabella; Previtali, Stefano Carlo

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature

病例报告:由SEPTIN9基因突变引起的帕森内奇-特纳综合征:一例意大利家庭儿童期发病病例报告及文献综述

Bosisio, Luca; Cataldi, Matteo; Grandis, Marina; Tappino, Barbara; Traverso, Monica; Germano, Francesco; Nobili, Lino; Fiorillo, Chiara