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Francesco Muntoni

ucl great ormond street institute of child health and great ormond street hospital

97H指数
763论文数
3.7W被引数
收录论文 211
发表时间
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Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions十年间肌萎缩侧索硬化症疾病修饰疗法的应用：经验总结与未来方向
errNature Reviews Neurology
IF33.1
err2026-06-17
err0
PREAI
errEugenio Mercuri; Richard S. Finkel; Francesco Muntoni
err分享
err收藏
Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy腺相关病毒基因治疗后肝脏中污染的质粒序列和破坏的载体基因组
errNature Medicine
IF50
err2026-01-16
err0
errOAAI
errSarah Buddle; Li-An K. Brown; Sofia Morfopoulou; Oscar Enrique Torres Montaguth; Mariacristina Scoto; Vanessa Herder; Anil Dhawan; Julianne R. Brown; Laura Atkinson; Angelika Kopec; Dee Davis; Nathaniel Storey; Luis Campos; Neil Sebire; Hannah Macpherson; Jasmaine Lee; Richard Orton; Giovanni Baranello; Patawee Asamaphan; Georgios Ilia; Rajvinder Karda; Holly Belfield; John Counsell; Simon N. Waddington; Emma C. Thomson; Francesco Muntoni; Judith Breuer
err分享
err收藏
Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy联合建模皮质类固醇治疗的杜氏肌营养不良症男孩的生长和运动功能百分位数
errEuropean Journal of Neurology
IF3.9
err2025-11-07
err0
errOAAI
errGeorgia Stimpson; Deborah Ridout; Amy Wolfe; Evelin Milev; Emer O’Reilly; Adnan Manzur; Anna Sarkozy; Francesco Muntoni; Giovanni Baranello; UK NorthStar Clinical Network
err分享
err收藏
Repeated intracisternal magna delivery of antisense oligonucleotides improves behavioural outcome in the dystrophic mdx23 mouse重复性脑室内注射反义寡核苷酸可改善营养不良mdx23小鼠的行为结局
errMolecular Therapy Nucleic Acids
IF6.1
err2025-10-24
err0
errOAAI
errAghaeipour A; null Mitsogiannis; Fergus C; Tetorou K; Gileadi TE; Stojek E; Talavera S; Singh S; Siddle M; Prendeville JA; Sokolowska E; Kelly VP; Morgan JE; Montanaro F; Muntoni F
err分享
err收藏
Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation杜氏肌营养不良症中非卧床健康状态的描述性特征：运动功能轨迹及丧失行走能力的时间
errJournal of Neuromuscular Diseases
IF3.4
err2025-09-23
err0
errOAAI
errFrancesco Muntoni; James Signorovitch; Michaela Johnson; Andres Gomez-Lievano; Nate Posner; Patricia Dorling; Katherine Beaverson; Jose Alvir; Matthias Mahn; Susan J Ward; Nathalie Goemans; Krista Vandenborne; Eugenio Mercuri; Craig M McDonald
err分享
err收藏
Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain小鼠脑内抗肌萎缩蛋白基因转录本和蛋白质的区域性表达
errCells 2025, Vol. 14, Page 1441
IF5.2
err2025-09-20
err0
errOAAI
errKonstantina Tetorou; Artadokht Aghaeipour; Shunyi Ma; Talia Gileadi; Amel Saoudi; Pablo Perdomo Quinteiro; Jorge Aragón; Maaike van Putten; Pietro Spitali; Cecilia Montanez; Cyrille Vaillend; Jennifer E. Morgan; Federica Montanaro; Francesco Muntoni
err分享
err收藏
Expressive language and social communication abilities in children with spinal muscular atrophy type 1脊髓性肌萎缩症1型患儿的表达性语言和社会沟通能力
errDevelopmental Medicine & Child Neurology
IF0
err2025-09-05
err0
errOAAI
errChiara Brusa; Bianca Buchignani; Chiara Cutri; Giorgia Coratti; Elaine Clark; Emily Johnson; Nikki Cornell; Mariacristina Scoto; Marika Pane; Eugenio Maria Mercuri; Francesco Muntoni; Giovanni Baranello; The Language and Social Communication in SMA working group
err分享
err收藏
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyADGRG6相关障碍：一种新型突变导致远端关节挛缩和斑片状神经病变
errNeuromuscular Disorders
IF2.8
err2025-07-23
err0
errOAAI
errValentine Perrain; Christopher J Record; Mariola Skorupinska; Julian Blake; Joanna Campbell; Roy Poh; James Polke; Anna Sarkozy; Francesco Muntoni; Mary M. Reilly
err分享
err收藏
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定
errJournal of Neuromuscular Diseases
IF3.4
err2025-06-10
err0
PREAI
errJustyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
err分享
err收藏
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TCOL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起
errBrain
IF11.7
err2025-04-03
err0
errOAAI
errA Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
err分享
err收藏
Fully personalized modelling of Duchenne Muscular Dystrophy ambulation
errPHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY A-MATHEMATICAL PHYSICAL AND ENGINEERING SCIENCES
IF3.7
err2025-04-02
err0
errOAAI
errApplebaum, Victor; Baker, Evan; Kim, Thomas; Stimpson, Georgia; Challenor, Peter; Wedgwood, Kyle Carlton Abesser; Anderson, Matthew; Bamsey, Ian; Baranello, Giovanni; Manzur, Adnan; Muntoni, Francesco; Tsaneva-Atanasova, Krasimira
err分享
err收藏
Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy按年龄和下降率可视化杜氏肌营养不良症患者的步行表现
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-03-17
err0
PREAI
errMayhew, Anna G.; Signorovitch, James; Johnson, Michaela; Frean, Molly; Ward, Susan J.; Posner, Nate; Merla, Valeria; Mahn, Matthias; Stimpson, Georgia; Guglieri, Michela; Straub, Volker; Muni-Lofra, Robert; Manzur, Adnan; Baranello, Giovanni; Muntoni, Francesco; North Star Clinical Network
err分享
err收藏
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy杂合子PNPT1变异导致感觉性共济失调性神经病变
errEUROPEAN JOURNAL OF NEUROLOGY
IF3.9
err2025-02-09
err0
errOAAI
errHaddad, Saif; Record, Christopher J.; Self, Eleanor; Skorupinska, Mariola; Rossor, Alexander M.; Laura, Matilde; Ingle, Gordon; Manzur, Adnan; Muntoni, Francesco; Blake, Julian C.; Reilly, Mary M.
err分享
err收藏
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy
errNEUROLOGY
IF8.5
err2025-01-28
err0
PREAI
errMcmillan, Hugh J.; Baranello, Giovanni; Farrar, Michelle A.; Zaidman, Craig M.; Moreno, Teresa; De Waele, Liesbeth; Jong, Yuh-Jyh; Laugel, Vincent; Quijano-Roy, Susana; Mercuri, Eugenio; Chien, Yin-Hsiu; Straub, Volker; Darras, Basil T.; Seibert, Julia; Bernardo Escudero, Roberto; Alecu, Iulian; Freischlaeger, Frank; Muntoni, Francesco
err分享
err收藏
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
errANNALS OF NEUROLOGY
IF7.7
err2025-01-24
err0
errOAAI
errCoppens, 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.
err分享
err收藏
Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy
errDISEASE MODELS & MECHANISMS
IF3.3
err2024-12-24
err0
errOAAI
errSaoudi, Amel; Mitsogiannis, Manuela D.; Zarrouki, Faouzi; Fergus, Claire; Stojek, Erwina; Talavera, Silvia; Moore-Frederick, Dervla; Kelly, Vincent P.; Goyenvalle, Aurelie; Montanaro, Federica; Muntoni, Francesco; Prenderville, Jack A.; Sokolowska, Ewa; Vaillend, Cyrille
err分享
err收藏
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trialAAV基因治疗杜氏肌营养不良症: EMBARK 3期随机试验
errNATURE MEDICINE
IF50
err2024-10-09
err3
errOAAI
errMendell, Jerry R.; Muntoni, Francesco; McDonald, Craig M.; Mercuri, Eugenio M.; Ciafaloni, Emma; Komaki, Hirofumi; Leon-Astudillo, Carmen; Nascimento, Andres; Proud, Crystal; Schara-Schmidt, Ulrike; Veerapandiyan, Aravindhan; Zaidman, Craig M.; Guridi, Maitea; Murphy, Alexander P.; Reid, Carol; Wandel, Christoph; Asher, Damon R.; Darton, Eddie; Mason, Stefanie; Potter, Rachael A.; Singh, Teji; Zhang, Wenfei; Fontoura, Paulo; Elkins, Jacob S.; Rodino-Klapac, Louise R.
err分享
err收藏
Profiling neuroinflammatory markers and response to nusinersen in paediatric spinal muscular atrophy
errSCIENTIFIC REPORTS
IF3.9
err2024-10-08
err1
errOAAI
errZhang, Qiang; Hong, Ying; Brusa, Chiara; Scoto, Mariacristina; Cornell, Nikki; Patel, Parth; Baranello, Giovanni; Muntoni, Francesco; Zhou, Haiyan
err分享
err收藏
Strategies to improve the design of gapmer antisense oligonucleotide on allele-specific silencing
errMOLECULAR THERAPY NUCLEIC ACIDS
IF6.1
err2024-09-01
err3
errOAAI
errAguti, Sara; Cheng, Shuzhi; Ala, Pierpaolo; Briggs, Sean; Muntoni, Francesco; Zhou, Haiyan
err分享
err收藏
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Nusinersen对2型和3型非卧床型脊髓性肌萎缩症患儿呼吸进展的治疗作用
errNEUROLOGY-CLINICAL PRACTICE
IF3.2
err2024-06-01
err4
PREAI
errTrucco, Federica; Ridout, Deborah; Weststrate, Harriet; Scoto, Mariacristina; Rohwer, Annemarie; Coratti, Giorgia; Main, Marion L.; Mayhew, Anna G.; Montes, Jacqueline; De Sanctis, Roberto; Pane, Marika; Pera, Maria Carmela; Sansone, Valeria A.; Albamonte, Emilio; D'Amico, Adele; Bruno, Claudio; Messina, Sonia S.; Childs, Anne-Marie; Willis, Tracey; Ong, Min T.; Servais, Laurent; Majumdar, Anirban; Hughes, Imelda; Marini-Bettolo, Chiara; Parasuraman, Deepak; Gowda, Vasantha L.; Baranello, Giovanni; Bertini, Enrico S.; De Vivo, Darryl C.; Darras, Basil T.; Day, John W.; Mayer, Oscar; Zolkipli-Cunningham, Zarazuela; Finkel, Richard S.; Mercuri, Eugenio; Muntoni, Francesco
err分享
err收藏

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王军 (Jun Wang)
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