학술논문
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'학술논문'
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1~20
Academic Journal
Buddle, Sarah; Brown, Li-An K.; Morfopoulou, Sofia; Torres Montaguth, Oscar Enrique; Scoto, Mariacristina; Herder, Vanessa; Dhawan, Anil; Brown, Julianne R.; Atkinson, Laura; Kopec, Angelika; Davis, Dee; Storey, Nathaniel; Campos, Luis; Sebire, Neil; Macpherson, Hannah; Lee, Jasmaine; Orton, Richard; Baranello, Giovanni; Asamaphan, Patawee; Ilia, Georgios; Karda, Rajvinder; Belfield, Holly; Counsell, John; Waddington, Simon N.; Thomson, Emma C.; Muntoni, Francesco; Breuer, Judith
Nature Medicine. 32(2):472-480
Academic Journal
Mendell, Jerry R.; Muntoni, Francesco; McDonald, Craig M.; Mercuri, Eugenio M.; Ciafaloni, Emma; Komaki, Hirofumi; Leon-Astudillo, Carmen; Nascimento, Andrés; Proud, Crystal; Schara-Schmidt, Ulrike; Veerapandiyan, Aravindhan; Zaidman, Craig M.; Furgerson, Matthew; Ding, Kai; Singh, Preeti; Potter, Rachael; Asher, Damon R.; Murphy, Alexander P.; Reid, Carol; Hooper, Gregory; Torre, Carmen O.; Manfrini, Marianna; Rodino-Klapac, Louise R.
Neurology and Therapy. 15(2):545-559
Academic Journal
Pini, Veronica; Catapano, Francesco; Bonaccorso, Rosa; Weisburd, Ben; Previtali, Stefano C.; Muntoni, Francesco
Acta Neuropathologica Communications. February 3, 2026, Vol. 14 Issue 1
Report
Protein Evolution. Methods in Molecular Biology, vol. 2979, pp. 83-104 (2026)
Academic Journal
Catapano, Francesco; Alkharji, Reem; Chambers, Darren; Singh, Simran; Aghaeipour, Artadokht; Malhotra, Jyoti; Ferretti, Patrizia; Phadke, Rahul; Muntoni, Francesco
Acta Neuropathologica Communications. 13(1)
Academic Journal
Chesshyre, Mary; Ridout, Deborah; Stimpson, Georgia; Servais, Laurent; Baranello, Giovanni; Manzur, Adnan; Scoto, M.; Sarkozy, A.; Munot, P.; Robb, S.; Chan, E.; Robinson, V.; Girshab, W.; Crook, V.; Milev, E.; Abbott, L.; Wolfe, A.; O’Reilly, E.; Watts‐Whent, J.; Burnett, N.; Thomas, R.; Terespolsky, R.; Martinaeu, O.; Longatto, J.; Straub, V.; Bettolo, C.; Guglieri, M.; Diaz‐Manera, J.; Tasca, G.; Elseed, M.; Muni‐Lofra, R.; James, M.; Moat, D.; Sodhi, J.; Wong, K.; Robinson, E.; Groves, E.; Rabb, R.; Parasuraman, D.; Mcmurchie, H.; Chase, H.; Willis, Tracey; Rylance, C.; Birchall, N.; Wright, E.; Childs, A.; Pysden, K.; Martos, C.; Roberts, D.; Pallant, L.; Walker, S.; Henderson, A.; Madhu, R.; Karuvattil, R.; Balla, Y.; Gregson, S.; Clark, S.; Wraige, E.; Jungbluth, H.; Gowda, V.; Vanegas, M.; Sheehan, J.; Schofield, A.; Smith, C.; Hughes, I.; Whitehouse, E.; Warner, S.; Reading, E.; Emery, N.; Moustoukas, J.; Strachan, K.; Ong, M.; Atherton, M.; Mills, N.; Marco, S. Sanchez; Saxena, A.; Skone, K.; Tewaternaude, J.; Davis, H.; Wood, C.; Majumdar, A.; Murugan, A.; Guarino, I.; Tomlinson, R.; Jarvis, H.; Wills, L.; Frimpong, C.; Watson, J.; Cobb, G.; Robertson, G.; Brink, P.; Burslem, J.; Adams, C.; Wong, J.; Joseph, S.; Horrocks, I.; Dunne, J.; Dimarco, M.; Brown, S.; Mckenzie, S.; Torne, K.; Mohamed, R.; Velmurugan, V.; Prasad, M.; Sedehizadeh, S.; Schugal, A.; Keetley, R.; Williamson, S.; Payne, K.; Dowling, E.; Fenty, P.; Goede, C.; Parkes, A.; Baxter, K.; Illingworth, M.; Bhangu, N.; Geary, S.; Palmer, J.; Shill, K.; Tirupathi, S.; Shah, A.; O’Donogue, D.; Mcveigh, J.; Mcfetridge, J.; Nicfhirleinn, G.; Beattie, H.; Leyland, T.; Stevenson, K.; Hussain, N.; Baskaran, D.; Lambat, Z.; Sullivan, R.; Locke, L.; Ambegaonkar, G.; Krishnakumar, D.; Taylor, J.; Moores, J.; Stephen, E.; Tewnion, J.; Ramdas, S.; Sa, M.; Skippen, A.; Khries, M.; Lilien, C.; Ramjattan, H.; Taylor, F.; English, H.; Stewart, K.; Flint, F.; Bartram, E.; Noble, R.; Muntoni, Francesco
Annals of Clinical and Translational Neurology. September 23, 2025, Vol. 12 Issue 9, p1732, 11 p.
Academic Journal
Vaillend, Cyrille; Aoki, Yoshitsugu; Mercuri, Eugenio; Hendriksen, Jos; Tetorou, Konstantina; Goyenvalle, Aurelie; Muntoni, Francesco
Nature Communications. 16(1)
Academic Journal
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.; Farrar, Michelle A.; Vuillerot, Carole
Ann Neurol
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Annals of Neurology, 97, 4, pp. 611-628
2025, ' Congenital Titinopathy : Comprehensive Characterization of the Most Severe End of the Disease Spectrum ', Annals of Neurology, vol. 97, no. 4, pp. 611-628 . https://doi.org/10.1002/ana.27087
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Edel, Lisa; Stimpson, Georgia; Patelis, Vasileios; Chan, Elaine; Scoto, Mariacristina; Muntoni, Francesco; Baranello, Giovanni
Neuromuscular Disorders. 61
Conference
Chietera, Francesco Paolo; Casula, Giovanni Andrea; Colella, Riccardo; Montisci, Giorgio; Muntoni, Giacomo; Catarinucci, Luca
2022 IEEE 12th International Conference on RFID Technology and Applications (RFID-TA) RFID Technology and Applications (RFID-TA), 2022 IEEE 12th International Conference on. :47-50 Sep, 2022
Conference
Colella, Riccardo; Chietera, Francesco Paolo; Montisci, Giorgio; Muntoni, Giacomo; Casula, Giovanni Andrea; Catarinucci, Luca
2022 Microwave Mediterranean Symposium (MMS) Microwave Mediterranean Symposium (MMS), 2022. :1-4 May, 2022
Academic Journal
Topf, Ana; Cox, Dan; Zaharieva, Irina; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealby, Ian; Smolnikov, Andrei; White, Richard; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen; Venturini, Cristina; Vroling, Bas; Stenton, Sarah; Cummings, Beryl; Harris, Elizabeth; Bettolo, Chiara Marini; Manera, Jordi Diaz; Barresi, Rita; Duff, Jennifer; England, Eleina; Patrick, Jane; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan; Macarthur, Daniel; Sarkozy, Anna; Cordell, Heather; Udd, Bjarne; Busch-Nentwich, Elisabeth; Muntoni, Francesco; Straub, Volker
Journal of the Neurological Sciences. 480
Academic Journal
Jeyaraj, Rebecca ; Brown, Li-An K ; Jagadisan, Barath ; Muntoni, Francesco ; Baruteau, Julien ; Gupte, Girish ; Breuer, Judith ; Gissen, Paul ; Oo, Ye H ; Dhawan, Anil
In The Lancet Child & Adolescent Health
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
Academic Journal
In Molecular Therapy 4 June 2025 33(6):2689-2704
Academic Journal
Kirschner, Janbernd; Bernert, Guenther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F.; van der Pol, W. Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas; Muntoni, Francesco; Servais, Laurent
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas;Muntoni , Francesco ; Servais, Laurent (2024). 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. European journal of paediatric neurology, 51, pp. 73-78. Elsevier 10.1016/j.ejpn.2024.06.001
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas;
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