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

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period

英国先天性肌病和肌营养不良症患者10年间的遗传特征和诊断结果

Cicala, Gianpaolo; Mccauley, Jo; Phadke, Rahul; Mueller, Juliane; Robb, Stephanie Ann; Manzur, Adnan Y; Munot, Pinki; Baranello, Giovanni; Scoto, Mariacristina; Tedesco, Francesco Saverio; Mein, Rachael A; Walsh, Cheryl; Muntoni, Francesco; Sarkozy, Anna

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum

先天性肌钙蛋白病:疾病谱中最严重阶段的全面特征描述

Coppens, Sandra; Deconinck, Nicolas; Sullivan, Patricia; Smolnikov, Andrei; Clayton, Joshua S; Griffin, Kaitlyn R; Jones, Kristi J; Vilain, Catheline N; Kadhim, Hazim; Bryen, Samantha J; Faiz, Fathimath; Waddell, Leigh B; Evesson, Frances J; Bakshi, Madhura; Pinner, Jason R; Charlton, Amanda; Brammah, Susan; Graf, Nicole S; Krivanek, Michael; Tay, Chee Geap; Foulds, Nicola C; Illingworth, Marjorie A; Thomas, Neil H; Ellard, Sian; Mazanti, Ingrid; Park, Soo-Mi; French, Courtney E; Brewster, Jennifer; Belteki, Gusztav; Hoodbhoy, Shazia; Allinson, Kieren; Krishnakumar, Deepa; Baynam, Gareth; Wood, Bradley M; Ward, Michelle; Vijayakumar, Kayal; Syed, Amber; Murugan, Archana; Majumdar, Anirban; Scurr, Ingrid J; Splitt, Miranda P; Moldovan, Corina; de Silva, Deepthi C; Senanayake, Kumudu; Gardeitchik, Thatjana; Arens, Yvonne; Cooper, Sandra T; Laing, Nigel G; Raymond, F Lucy; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Manzur, Adnan; Corley, Susan M; Ravenscroft, Gianina; Wilkins, Marc R; Cowley, Mark J; Pinese, Mark; Phadke, Rahul; Davis, Mark R; Muntoni, Francesco; Oates, Emily C

A comprehensive spatiotemporal map of dystrophin isoform expression in the developing and adult human brain.

发育中和成人人脑中肌营养不良蛋白同工型表达的全面时空图谱

Catapano Francesco, Alkharji Reem, Chambers Darren, Singh Simran, Aghaeipour Artadokht, Malhotra Jyoti, Ferretti Patrizia, Phadke Rahul, Muntoni Francesco

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

Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy

儿童显性和隐性RYR1相关肌病的长期自然史

Sarkozy, Anna; Sa, Mario; Ridout, Deborah; Fernandez-Garcia, Miguel Angel; Distefano, Maria Grazia; Main, Marion; Sheehan, Jennie; Manzur, Adnan Y; Munot, Pinki; Robb, Stephanie; Wraige, Elizabeth; Quinlivan, Rosaline; Scoto, Mariacristina; Baranello, Giovanni; Gowda, Vasantha; Mein, Rachael; Phadke, Rahul; Jungbluth, Heinz; Muntoni, Francesco

GGPS1-associated muscular dystrophy with and without hearing loss

GGPS1相关性肌营养不良症伴或不伴听力丧失

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; Zaharieva, Irina; Camelo Gontijo, Clara; Beetz, Christian; Pini, Veronica; Movahedinia, Mojtaba; Zanoteli, Edmar; DiTroia, Stephanie; Vuillaumier-Barrot, Sandrine; Isapof, Arnaud; Mehrjardi, Mohammad Yahya Vahidi; Ghasemi, Nasrin; Sarkozy, Anna; Muntoni, Francesco; Whalen, Sandra; Vona, Barbara; Houlden, Henry; Maroofian, Reza

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

Ageing contributes to phenotype transition in a mouse model of periodic paralysis

衰老导致周期性麻痹小鼠模型出现表型转变

Suetterlin, Karen J; Tan, S Veronica; Mannikko, Roope; Phadke, Rahul; Orford, Michael; Eaton, Simon; Sayer, Avan A; Grounds, Miranda D; Matthews, Emma; Greensmith, Linda; Hanna, Michael G

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