Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Cateruccia M"'
Autor:
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Lenkowicz J; Gemelli Generator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Bruno C; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy., Gullì C; Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Brolatti N; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy., Pedemonte M; Center of Translational and Experimental Myology, and Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, IRCCS Istituto Giannina Gaslini, Genova, Italy., Antonaci L; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Ricci M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Capasso A; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Cicala G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Cutrona C; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy., de Sanctis R; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Carnicella S; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Forcina N; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Cateruccia M; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Damasio MB; Department of Radiology, IRCCS Istituto Giannina Gaslini, Genova, Italy., Labianca L; Department of Trauma and Orthopaedics, University of Rome La Sapienza, Rome, Italy., Manfroni F; Division of traumatology, spine surgery unit, Department of surgery and transplant, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Leone A; Department of Radiological and Hematological Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital IRCCS, Roma, Italy., Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy., Patarnello S; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy., Valentini V; Department of Bioimaging Radiation Oncology and Hematology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica S. Cuore, Roma, Italy., Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy eugeniomaria.mercuri@unicatt.it.; Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy.
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2024 Feb 14; Vol. 95 (3), pp. 235-240. Date of Electronic Publication: 2024 Feb 14.
Autor:
Albamonte, E., Coratti, G., Salmin, F., Zanolini, A., Pane, M., Pera, MC., Leone, D., Antonaci, L., D’Amico, A., Catteruccia, M., Bertini, E., Bruno, C., Brolatti, N., Messina, S., Sframeli, M., Piras, R., Mercuri, E., Sansone, V.A., Bonanno, S., Giossi, R., Zanin, R., Porcelli, V., Ingenito, G., Stevic, Z., Peric, S., Maggi, L., Darras, B.T., Masson, R., Mazurkiewicz-Bełdzińska, M., Rose, K., Xiong, H., Zanoteli, E., Baranello, G., Vlodavets, D., Dodman, A., El-Khairi, M., Gerber, M., Gorni, K., Kletzl, H., Scalco, R.S., Servais, L., Bello, L., Govoni, A., Caponnetto, C., Grisanti, S.G., Passamano, L., Grandis, M., Nicocia, G., Trojsi, F., Cerri, F., Gardani, A., Risi, B., Gadaleta, G., Ferraro, M., Bozzoni, V., Caumo, L., Tanel, R., Saccani, E., Meneri, M., Vacchiano, V., Ricci, G., Sorarù, G., D’Errico, E., Maioli, M.A., Tramacere, I., Bortolani, S., Pavesi, G., Silvestrini, M., Politano, L., Schenone, A., Previtali, S.C., Berardinelli, A., Turri, M., Verriello, L., Coccia, M., Mantegazza, R., Liguori, R., Filosto, M., Marrosu, G., Siciliano, G., Simone, I.L., Mongini, T., Comi, G.P., Pegoraro, E., Mercante, A., Perilongo, G., Salamon, E., Santini, A., Benini, F., Agosto, C., Cotti Piccinelli, S., Pilotto, A., Cristillo, V., Schiano di Cola, F., Bonzi, G., Mazzola, M., Padovani, A., Nuredini, A., Taiana, M., Nizzardo, M., Mari, F., Cesaroni, E., Porfiri, L., Tiziano, D., Vita, G.L., Merico, E., Schirinzi, E., Ramos, J.A.F., Ostrowska, I., Piontek, M., Corti, S., Miller, W., Shieh, P.B., Kuntz, N., Dowling, J.J., Müller-Felber, W., Blaschek, A., Bönnemann, C.G., Foley, A.R., Saade, D.N., Seferian, A.M., Lawlor, M.W., Noursalehi, M., Prasad, S., Rico, S., Rodino-Klapac, L.R., Pozsgai, E.R., Lewis, S., Griffin, D.A., Meadows, A.S., Lehman, K.J., Church, K., Reash, N.F., Iammarino, M.A., Powers, B., Alfano, L.N., Lowes, L.P., Koenig, E., Neuhaus, S., Li, X., Picaro, L., Mendell, J.R., Tonacci, A., Torri, F., Aringhieri, G., Sansone, F., Rubegni, A., Santorelli, F.M., Conte, R., Riguzzi, P., Zangaro, V., Villa, F.M., Cestarollo, M., Savarese, M., Johari, M., Vihola, A., Luque, H., Hackman, P., Udd, B., Bianchi, F., Fortunato, F., Giannini, F., Malandrini, A., Silani, V., Ticozzi, N., Fenu, S., Peduto, C., D’Ambrosio, P., Primiano, G., Sancricca, C., Sciacco, M., Brusa, R., Solero, L., Brusa, C., Cateruccia, M., Diodado, D., Pugliese, A., Ferlini, A., Monastra, F.M., Blasevich, F., Bragato, C., Marinella, G., Buchignani, B., Astrea, G., Cassandrini, D., Donati, M.A., Gallone, S., Lopergolo, D., Maioli, MA., Magri, F., Mandich, P., Massa, R., Matà, S., Moggio, M., Mongini, T.E., Ricci, F., Rodolico, C., Sperti, M., Ticci, C., Tonin, P., Battini, R., Panicucci, C., Pedemonte, M., Casalini, E., Minetti, C., Maghnie, M., Di Iorgi, N., Sabbatini, D., Vianello, S., Fusto, A., Merlo, B., Parravicini, S., Travaglioni, L., D’Angelo, G., Di Bari, A., Canioni, E., Gallone, A., Picillo, E., Nigro, V., Trucco, F., Ridout, D., Maresh, K., Chesshyre, M., Munot, P., Sarkozy, A., Robb, S., Quinlivan, R., Riley, M., Wallis, C., Chan, E., Abel, F., De Lucia, S., Hogrel, J.-Y., Niks, E.H., de Groot, H., Straub, V., Ricotti, V., Manzur, A., Muntoni, F., Frosini, S., LoMauro, A., Diella, E., Russo, A., Delle Fave, M., Pistininzi, C., Marchi, E., Pascuzzo, R., Vantini, S., Aliverti, A., D’Angelo, M.G., Garibaldi, M., Iacono, S., Di Stefano, V., Lupica, A., Gagliardo, A., Lanza, P., Rispoli, M.G., Ferri, L., Brighina, F., Di Muzio, A., Frangiamore, R., Antozzi, C., Baggi, F., Onore, M.E., Torella, A., Musacchia, F., Del Vecchio Blanco, F., Zanobio, M., Piluso, G., Poggetti, F., Ripolone, M., Zanotti, S., Caputo, V., Megalizzi, D., Bax, C., Ranieri, M., Colantoni, L., Tasca, G., Ricci, E., Caltagirone, C., Cascella, R., Giardina, E., Strafella, C., Lai, E., Marcello, M., Morotti, I., Caremani, M., Conte, I., Linari, M., Raffaghello, L., Principi, E., Baratto, S., Pintus, S., Antonini, F., Del Zotto, G., Bruzzone, S., Scudieri, P., Gazzerro, E., Ronchi, D., Lucchiari, S., Garbellini, M., Salani, S., Ciscato, P., Bresolin, N., Zeuli, R., Varavallo, A., Angelini, C., Brunetti-Pierri, N., Wischmeijer, A., Labella, B., Pezzini, D., Costa, A., Poli, L., Magoni, M., Manini, A., Velardo, D., Cinnante, C.M., Marija, M., Janez, Z., Traverso, M., Pini, A., Giannotta, M., Valentino, M.L., Scala, M., Zara, F., Fiorillo, C., Antognozzi, S., Napoli, L., Scuvera, G., Giacobbe, A., Milani, D., Rolle, E., Rossi, F., Cavallina, I., D’Alessandro, R., Urbano, G., Ricci, F, Peruzzo, D., Ciceri, T., Mascheretti, S., Lampis, V., Arrigoni, F., Giubergia, A., Crippa, A., Nobile, M., Mani, E., Falzarano, M.S., Mietto, M., Rossi, R., Selvatici, R., Gessi, M., Montanaro, F., Morgan, J., Muntoni, F, Lanzi, G., Galvagni, A., Romani, C., Gerevini, S., Selicorni, A., Ajdinaj, P., Montrasio, S., Cazzaniga, S., Bettica, P.U., Mastellaro, S., Romano, F., Napoli, M.M., Barbone, F., De Rosa, M.A., Angelucci, D., Andreassi, G., Amatetti, M., Amerio, P., Altamura, C., Farinato, A., Campanale, C., Carratù, M.R., Desaphy, J.-F., Brugnoni, R., Rossi, T., Canavese, C., Eoli, M., Lauria, G., Toscano, A., DiDuca, M., Campana, C., Cataldi, M., Greco, G., Frezza, E., Goglia, M., Boffa, L., Pignolo, A., Quartana, M., Fierro, B., Musumeci, S.A., Scarsi, E., Cella, A., Narciso, E., Cabona, C., Beronio, A., Assini, A., Del Sette, M., Bandini, F., Benedetti, L., Prada, V., Torre, E., Missaglia, S., Tavian, D., Baldelli, E., Caria, F., Ferrari Aggradi, C.R., Falcier, E., Lizio, A., Pirola, A., Casiraghi, J., Carraro, E., Mauro, L., Rao, F., Roma, E., Iannello, A., De Mattia, E., Barp, A., Lupone, S., Gatti, V., Italiano, C., Frisoni, M.C., Ferrari-Aggradi, C.R., Refran, J., Becchiati, S., Iossa, F., Eichinger, K., Dekdebrun, J., St Romain, J., Johnson, N., Thornton, C., Leali, M., Aimo, A., Todiere, G., Vergaro, G., Grigoratos, C., Giannoni, A., Baldinotti, F., Aquaro, G.D., Emdin, M., Passino, C., Barison, A., Gibertini, S., Iannibelli, E., Mora, M., Ruggieri, A., Scutifero, M., Palladino, A., Spiro Santovito, L., Pasanisi, B., Nesti, C., Bartolini, M., Tarabelloni, A., Tizzoni, F., Colombo, P., Tesei, A., Molteni, M., Falzone, Y., Chico, L., Caligo, M.A., D’Apice, M.R., Mantegazza, R.E., Pegolo, E., Cibin, F., Sawacha, Z., Giagnorio, E., Malacarne, C., Salvi, E., Bossolasco, P., Bardelli, D., Ratti, A., Marcuzzo, S., Melzi, V., Rizzuti, M., Gagliardi, D., Masrori, P., Biella, F., Van Damme, P., Musso, G., Cosma, C., Plebani, M., Neri, M., Sette, E., Trabanelli, C., Margutti, A., Rimessi, P., Fabris, M., Tugnoli, V., Gualandi, F., Paoletti, M., Diamanti, L., Muzic, S.I., Ballante, E., Solazzo, F., Foppoli, L., Deligianni, X., Santini, S., Figini, S., Bergsland, N., Pichiecchio, A., Pilla, F., Ianes, P.G., Casagrande, S., Gasperini, B., Zuccarino, R., Bersani, M., Pagliari, E., Saccomanno, D., Cattaneo, C., Lops, J., Pera, M.C., Palazzo, G., Scarpini, G., Not, R., Capelli, P., Testoni, C., Pisani, F., Piccolo, B., Fusco, C., Frattini, D., Vergine, G., Farina, M., Sarajlia, J., Marchetti, F., Piccinini, G.
Publikováno v:
Acta Myologica
Background Risdiplam has been approved for Compassionate Use (CUP) since 2019, for SMA type 1 and type 2 who could not receive the approved treatment for the disease. It’s an orally administered drug targeting SMN2 gene. More than 200 patients have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmc_________::cc20b5f2e1c8b4b118a3c86c48d1857d
http://europepmc.org/articles/PMC8694696
http://europepmc.org/articles/PMC8694696
Autor:
Esteller D; Neurology Department Hospital Clinic de Barcelona Universitat de Barcelona, Barcelona Spain., Morrow J; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Alonso-Pérez J; Neuromuscular Disease Unit Neurology Department Hospital Universitario Nuestra Señora de Candelaria Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC) Tenerife Spain., Reyes D; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain., Carbayo A; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain., Bisogni G; Centro Clinico NeMO Adulti, Rome, Italy., Cateruccia M; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Research Hospital, Rome, Italy., Monforte M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Tasca G; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Alangary A; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Sabatelli M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Ramdharry G; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Bolaño-Díaz C; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Turon-Sans J; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain., Töpf A; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Guglieri M; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Olive M; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain., Bertini E; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Research Hospital, Rome, Italy., Straub V; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom., Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom., Rojas-García R; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Barcelona Spain. Electronic address: rrojas@santpau.cat., Díaz-Manera J; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Barcelona Spain; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: jordi.diaz-manera@newcastle.ac.uk.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Oct; Vol. 33 (10), pp. 744-753. Date of Electronic Publication: 2023 Aug 28.
Akademický článek
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Akademický článek
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Autor:
Fionda L; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy. laura.fionda@uniroma1.it.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy. laura.fionda@uniroma1.it., Leonardi L; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Tufano L; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Lauletta A; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Morino S; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Merlonghi G; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Costanzo R; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Rossini E; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Forcina F; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Marando D; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Sarzi Amadè D; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Bucci E; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy., Salvetti M; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Antonini G; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy., Garibaldi M; Neuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Publikováno v:
Journal of neurology [J Neurol] 2024 Sep; Vol. 271 (9), pp. 5864-5874. Date of Electronic Publication: 2024 Jul 07.
Publikováno v:
Acta Myologica; 2021 Supplement, Vol. 40, p1-76, 76p