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

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

复发性新生SPTLC2变异通过鞘脂合成过多导致儿童期发病的肌萎缩侧索硬化症(ALS)。

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C Jr; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

COL25A1基因隐性变异是导致多发性先天性关节挛缩症伴眼部先天性颅神经支配障碍的新病因

Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J; Chan, Wai-Man; Elder, James E; Christodoulou, John; Hay, Eleanor; England, Eleina M; Munot, Pinki; Hunter, David G; Feng, Lucy; Ledoux, Danielle; O'Donnell-Luria, Anne; Phadke, Rahul; Engle, Elizabeth C; Sarkozy, Anna; Muntoni, Francesco

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

North American cost analysis of brand name versus generic drugs for the treatment of glaucoma

北美地区治疗青光眼的品牌药与仿制药成本分析

Malvankar-Mehta, Monali S; Feng, Lucy; Hutnik, Cindy Ml

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

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

GDP-甘露糖焦磷酸化酶B的突变会导致先天性和肢带型肌营养不良症,并伴有α-肌营养不良蛋白聚糖的糖基化不足。

Carss, Keren J; Stevens, Elizabeth; Foley, A Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van Scherpenzeel, Monique; Moore, Steven A; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten G; Abdenur, Jose E; Grosmann, Carla M; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh B; Young, Helen K; Wraige, Elizabeth; Yau, Shu; Brodd, Lina; Feng, Lucy; Sewry, Caroline; MacArthur, Daniel G; North, Kathryn N; Hoffman, Eric; Stemple, Derek L; Hurles, Matthew E; van Bokhoven, Hans; Campbell, Kevin P; Lefeber, Dirk J; Lin, Yung-Yao; Muntoni, Francesco

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets

基因表达谱分析可识别与VI型胶原蛋白缺乏相关的分子通路,并提供新的治疗靶点。

Paco, Sonia; Kalko, Susana G; Jou, Cristina; Rodríguez, María A; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M; Ferrer, Anna; Ortez, Carlos; Nascimento, Andrés; Colomer, Jaume; Jimenez-Mallebrera, Cecilia

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

杜氏肌营养不良症外显子跳跃疗法后肌营养不良蛋白相关糖蛋白复合物的恢复

Cirak, Sebahattin; Feng, Lucy; Anthony, Karen; Arechavala-Gomeza, Virginia; Torelli, Silvia; Sewry, Caroline; Morgan, Jennifer E; Muntoni, Francesco