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

The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

反义寡核苷酸golodirsen的给药可减少杜氏肌营养不良症患者的病理性再生。

Scaglioni, Dominic; Catapano, Francesco; Ellis, Matthew; Torelli, Silvia; Chambers, Darren; Feng, Lucy; Beck, Matthew; Sewry, Caroline; Monforte, Mauro; Harriman, Shawn; Koenig, Erica; Malhotra, Jyoti; Popplewell, Linda; Guglieri, Michela; Straub, Volker; Mercuri, Eugenio; Servais, Laurent; Phadke, Rahul; Morgan, Jennifer; Muntoni, Francesco

A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

用于肌营养不良症中肌膜和肌节蛋白多重免疫荧光分析和定量的高通量数字脚本

Scaglioni, Dominic; Ellis, Matthew; Catapano, Francesco; Torelli, Silvia; Chambers, Darren; Feng, Lucy; Sewry, Caroline; Morgan, Jennifer; Muntoni, Francesco; Phadke, Rahul

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

在具有 Neb 基因错义突变和无义突变的复合杂合子小鼠模型中,Nebulin 线粒体肌病得以重现

Laitila Jenni M, McNamara Elyshia L, Wingate Catherine D, Goullee Hayley, Ross Jacob A, Taylor Rhonda L, van der Pijl Robbert, Griffiths Lisa M, Harries Rachel, Ravenscroft Gianina, Clayton Joshua S, Sewry Caroline, Lawlor Michael W, Ottenheijm Coen A C, Bakker Anthony J, Ochala Julien, Laing Nigel G, Wallgren-Pettersson Carina, Pelin Katarina, Nowak Kristen J

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

PYROXD1相关肌病的临床、组织学和遗传学特征

Lornage, Xavière; Schartner, Vanessa; Balbueno, Inès; Biancalana, Valérie; Willis, Tracey; Echaniz-Laguna, Andoni; Scheidecker, Sophie; Quinlivan, Ros; Fardeau, Michel; Malfatti, Edoardo; Lannes, Béatrice; Sewry, Caroline; Romero, Norma B; Laporte, Jocelyn; Böhm, Johann

Nemaline myopathies: a current view

线状肌病:当前观点

Sewry, Caroline A; Laitila, Jenni M; Wallgren-Pettersson, Carina

Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

两种通过选择性剪接产生的人类Nebulin亚型,分别包含外显子143或外显子144,及其发育调控

Lam, Le Thanh; Holt, Ian; Laitila, Jenni; Hanif, Mubashir; Pelin, Katarina; Wallgren-Pettersson, Carina; Sewry, Caroline A; Morris, Glenn E

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

MYL1基因的双等位基因突变会导致严重的先天性肌病。

Ravenscroft, Gianina; Zaharieva, Irina T; Bortolotti, Carlo A; Lambrughi, Matteo; Pignataro, Marcello; Borsari, Marco; Sewry, Caroline A; Phadke, Rahul; Haliloglu, Goknur; Ong, Royston; Goullée, Hayley; Whyte, Tamieka; Consortium, Uk K; Manzur, Adnan; Talim, Beril; Kaya, Ulkuhan; Osborn, Daniel P S; Forrest, Alistair R R; Laing, Nigel G; Muntoni, Francesco

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy

SCN4A基因功能缺失突变会导致严重的胎儿运动减少症或“经典”先天性肌病。

Zaharieva, Irina T; Thor, Michael G; Oates, Emily C; van Karnebeek, Clara; Hendson, Glenda; Blom, Eveline; Witting, Nanna; Rasmussen, Magnhild; Gabbett, Michael T; Ravenscroft, Gianina; Sframeli, Maria; Suetterlin, Karen; Sarkozy, Anna; D'Argenzio, Luigi; Hartley, Louise; Matthews, Emma; Pitt, Matthew; Vissing, John; Ballegaard, Martin; Krarup, Christian; Slørdahl, Andreas; Halvorsen, Hanne; Ye, Xin Cynthia; Zhang, Lin-Hua; Løkken, Nicoline; Werlauff, Ulla; Abdelsayed, Mena; Davis, Mark R; Feng, Lucy; Phadke, Rahul; Sewry, Caroline A; Morgan, Jennifer E; Laing, Nigel G; Vallance, Hilary; Ruben, Peter; Hanna, Michael G; Lewis, Suzanne; Kamsteeg, Erik-Jan; Männikkö, Roope; Muntoni, Francesco

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

EPG5相关Vici综合征:一种伴有自噬缺陷的神经发育障碍范例

Byrne, Susan; Jansen, Lara; U-King-Im, Jean-Marie; Siddiqui, Ata; Lidov, Hart G W; Bodi, Istvan; Smith, Luke; Mein, Rachael; Cullup, Thomas; Dionisi-Vici, Carlo; Al-Gazali, Lihadh; Al-Owain, Mohammed; Bruwer, Zandre; Al Thihli, Khalid; El-Garhy, Rana; Flanigan, Kevin M; Manickam, Kandamurugu; Zmuda, Erik; Banks, Wesley; Gershoni-Baruch, Ruth; Mandel, Hanna; Dagan, Efrat; Raas-Rothschild, Annick; Barash, Hila; Filloux, Francis; Creel, Donnell; Harris, Michael; Hamosh, Ada; Kölker, Stefan; Ebrahimi-Fakhari, Darius; Hoffmann, Georg F; Manchester, David; Boyer, Philip J; Manzur, Adnan Y; Lourenco, Charles Marques; Pilz, Daniela T; Kamath, Arveen; Prabhakar, Prab; Rao, Vamshi K; Rogers, R Curtis; Ryan, Monique M; Brown, Natasha J; McLean, Catriona A; Said, Edith; Schara, Ulrike; Stein, Anja; Sewry, Caroline; Travan, Laura; Wijburg, Frits A; Zenker, Martin; Mohammed, Shehla; Fanto, Manolis; Gautel, Mathias; Jungbluth, Heinz

Common Data Elements for Muscle Biopsy Reporting

肌肉活检报告的通用数据元素

Dastgir, Jahannaz; Rutkowski, Anne; Alvarez, Rachel; Cossette, Stacy A; Yan, Ke; Hoffmann, Raymond G; Sewry, Caroline; Hayashi, Yukiko K; Goebel, Hans-Hilmar; Bonnemann, Carsten; Lawlor, Michael W