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

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

Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts

脊髓性肌萎缩症功能综合评分修订版(SMA-FCR)在未治疗和接受Nusinersen治疗的患者队列中的比较

Pasternak, Amy; McDermott, Michael P; Montes, Jacqueline; Glanzman, Allan M; Coratti, Giorgia; Dunaway Young, Sally; Duong, Trinh Tina; Martens, William B; Day, John W; Zolkipli-Cunningham, Zarazuela; Sansone, Valeria Ada; D'Amico, Adele; Messina, Sonia; Bruno, Claudio; Mercuri, Eugenio; De Vivo, Darryl C; Darras, Basil T

Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy

Nusinersen 可纠正重度脊髓性肌萎缩症患者脑脊液中 L-精氨酸缺乏症。

Hassan, Amber; di Vito, Raffaella; Caretto, Anna; Nuzzo, Tommaso; D'Amico, Adele; Panicucci, Chiara; Bruno, Claudio; Bertini, Enrico; Vercelli, Alessandro; Boido, Marina; Errico, Francesco; Pellizzoni, Livio; Usiello, Alessandro

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.

严重脊髓性肌萎缩症中 D 型和 L 型氨基酸平衡失调调节谷氨酸能神经传递

Hassan Amber, di Vito Raffaella, Nuzzo Tommaso, Vidali Matteo, Carlini Maria Jose, Yadav Shubhi, Yang Hua, D'Amico Adele, Kolici Xhesika, Valsecchi Valeria, Panicucci Chiara, Pignataro Giuseppe, Bruno Claudio, Bertini Enrico, Errico Francesco, Pellizzoni Livio, Usiello Alessandro

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

Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability

对患有智力障碍的杜氏肌营养不良症(DMD)患者肠道菌群谱的探索性分析

Panicucci, Chiara; Casalini, Sara; Fiorito, Giovanni; Rinaldi, Alessandra Biolcati; Biagioli, Valentina; Cangelosi, Davide; Brolatti, Noemi; Principi, Elisa; Baratto, Serena; Pedemonte, Marina; Morando, Simone; Riva, Antonella; Venturino, Cristina; Striano, Pasquale; Uva, Paolo; Bruno, Claudio

D- and L-Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy

杜氏肌营养不良症患儿的血液中D-和L-氨基酸浓度受到影响

Garofalo, Martina; Panicucci, Chiara; Imarisio, Alberto; Nuzzo, Tommaso; Brolatti, Noemi; De Stefano, Maria Egle; Valente, Enza Maria; Errico, Francesco; Bruno, Claudio; Usiello, Alessandro