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F

Francesco Muntoni

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

97H-index
763Paper Count
3.7WCitation Count
Published Papers 211
Publication Date
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Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions
errNature Reviews Neurology
IF33.1
err2026-06-17
err0
PREAI
errEugenio Mercuri; Richard S. Finkel; Francesco Muntoni
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Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy
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
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Joint Modelling of Growth and Motor Function Centiles in Corticosteroids Treated Boys With Duchenne Muscular Dystrophy
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
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errSave
Repeated intracisternal magna delivery of antisense oligonucleotides improves behavioural outcome in the dystrophic mdx23 mouse
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
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Descriptive characterization of ambulatory health states in Duchenne muscular dystrophy: Motor function trajectories and times to loss of ambulation
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
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Regional Expression of Dystrophin Gene Transcripts and Proteins in the Mouse Brain
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
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errSave
Expressive language and social communication abilities in children with spinal muscular atrophy type 1
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
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ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy
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
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errSave
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
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
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errSave
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T
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
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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
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Visualizing ambulatory performance by age and rates of decline among patients with Duchenne muscular dystrophy
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
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Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy
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.
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errSave
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
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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.
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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
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AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial
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.
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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
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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
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Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3
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
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Research Directions

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Co-authors
Cooperation Journals
王
王军 (Jun Wang)
H-index: 222 · Papers: 3.2K
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Peter M. Visscher
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A
Aarno Palotie
H-index: 171 · Papers: 1.2K
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Paul Flicek
H-index: 167 · Papers: 522
F
Fernando Rivadeneira
H-index: 165 · Papers: 923
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