Zobrazeno 1 - 10
of 263
pro vyhledávání: '"Lucio, Santoro"'
Autor:
Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is a myopathy with prevalence of 1 in 20,000. Almost all patients affected by FSHD carry deletions of an integral number of tandem 3.3 kilobase repeats, termed D4Z4, located on chromosome 4q35. A
Externí odkaz:
https://doaj.org/article/1f77ff0f42694a7eb9d9729bb0e05731
Autor:
Marcello Esposito, Raffaele Dubbioso, Stefano Tozza, Rosa Iodice, Marco Aiello, Emanuele Nicolai, Carlo Cavaliere, Marco Salvatore, Lucio Santoro, Fiore Manganelli
Publikováno v:
Heliyon, Vol 5, Iss 11, Pp e02776- (2019)
Background: Niemann Pick disease type C (NPC) is a lysosomal lipid storage disorder presenting visceral and neurological impairment with cognitive decline. Neurodegeneration in NPC is associated to deposition of amyloid-β and abnormal tau aggregatio
Externí odkaz:
https://doaj.org/article/c1c50777d89d4e179ffb7f3b715f038c
Autor:
Samuel Arends, Judith Drenthen, Peter van den Bergh, Hessel Franssen, Robert D.M. Hadden, Badrul Islam, Satoshi Kuwabara, Ricardo C. Reisin, Nortina Shahrizaila, Hiroshi Amino, Giovanni Antonini, Shahram Attarian, Claudia Balducci, Fabio Barroso, Tulio Bertorini, Davide Binda, Thomas H. Brannagan, Jan Buermann, Carlos Casasnovas, Guido Cavaletti, Chi-Chao Chao, Mazen M. Dimachkie, Ernesto A. Fulgenzi, Giuliana Galassi, Gerardo Gutiérrez Gutiérrez, Thomas Harbo, Hans-Peter Hartung, Sung-Tsang Hsieh, Lynette Kiers, Helmar C. Lehmann, Fiore Manganelli, Girolama A. Marfia, Giorgia Mataluni, Julio Pardo, Yann Péréon, Yusuf A. Rajabally, Lucio Santoro, Yukari Sekiguchi, Beth Stein, Mark Stettner, Antonino Uncini, Christine Verboon, Camiel Verhamme, Michal Vytopil, Waqar Waheed, Min Wang, Sasha Zivkovic, Bart C. Jacobs, David R. Cornblath, J.M. Addington, S. Ajroud-Driss, H. Andersen, G. Antonini, S. Attarian, U.A. Badrising, G. Balloy, F.A. Barroso, K. Bateman, I.R. Bella, L. Benedetti, P. van den Bergh, T.E. Bertorini, R. Bhavaraju-Sanka, M. Bianco, T.H. Brannagan, C. Briani, null Buerrmann, M. Busby, S. Butterworth, C. Casasnovas, G. Cavaletti, C.C. Chao, G. Chavada, S. Chen, K.G. Claeys, M.E. Conti, D.R. Cornblath, J.S. Cosgrove, M.C. Dalakas, P. van Damme, E. Dardiotis, A. Davidson, M.A. Derejko, G.W. van Dijk, M.M. Dimachkie, P.A. van Doorn, C. Dornonville de la Cour, A. Echaniz-Laguna, F. Eftimov, C.G. Faber, R. Fazio, T.E. Feasby, C. Fokke, T. Fujioka, E.A. Fulgenzi, G. Galassi, T. Garcia-Sobrino, M.P.J. Garssen, C.J. Gijsbers, J.M. Gilchrist, H.J. Gilhuis, J.M. Goldstein, K.C. Gorson, N.A. Goyal, V. Granit, S.T.E. Grisanti, null Gutiérrez-Gutiérrez, L. Gutmann, R.D.M. Hadden, T. Harbo, H.P. Hartung, J.V. Holbech, J.K.L. Holt, S.T. Hsieh, M. Htut, R.A.C. Hughes, I. Illa, B. Islam, Z. Islam, B.C. Jacobs, J. Fehmi, K. Jellema, I. Jerico Pascual, K. Kaida, S. Karafiath, H.D. Katzberg, M.A. Khoshnoodi, L. Kiers, K. Kimpinski, R.P. Kleyweg, N. Kokubun, N.A. Kolb, R. van Koningsveld, A.J. van der Kooi, J.C.H.M. Kramers, K. Kuitwaard, S. Kusunoki, S. Kuwabara, J.Y. Kwan, S.S. Ladha, L. Landschoff Lassen, V. Lawson, H.C. Lehmann, E. Lee Pan, M.P.T. Lunn, H. Manji, G.A. Marfia, C. Márquez Infante, L. Martin-Aguilar, E. Martinez Hernandez, G. Mataluni, M. Mattiazi, C.J. McDermott, G.D. Meekins, J.A.L. Miller, Q.D. Mohammad, M.S. Monges, G. Moris de la Tassa, C. Nascimbene, F.J. Navacerrada-Barrero, E. Nobile-Orazio, R.J. Nowak, P.J. Orizaola, M. Osei-Bonsu, A.M. Pardal, J. Pardo, R.M. Pascuzzi, Y. Péréon, M.T. Pulley, L. Querol, S.W. Reddel, T. van der Ree, R.C. Reisin, S. Rinaldi, R.C. Roberts, I. Rojas-Marcos, null Rudnicki, G.M. Sachs, J.P.A. Samijn, L. Santoro, A. Schenone, M.J. Sedano Tous, N. Shahrizaila, K.A. Sheikh, N.J. Silvestri, S.H. Sindrup, C.L. Sommer, B. Stein, Y. Song, A.M. Stino, H. Tankisi, M.R. Tannemaat, P. Twydell, P.V. Vélez-Santamaria, J.D. Varrato, F.H. Vermeij, L.H. Visser, M.V. Vytopil, W. Waheed, C. Walgaard, Y.Z. Wang, H.J. Willison, P.W. Wirtz, Y. Yamagishi, L. Zhou, S.A. Zivkovic
Publikováno v:
Clinical Neurophysiology, 138, 231-240. ELSEVIER IRELAND LTD
Clinical neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Dipòsit Digital de la UB
Universidad de Barcelona
Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R D M, Islam, B, Kuwabara, S, Reisin, R C, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T H, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C C, Dimachkie, M M, Fulgenzi, E A, Galassi, G, Gutiérrez Gutiérrez, G, Harbo, T, Hartung, H P, Hsieh, S T, Kiers, L, Lehmann, H C, Manganelli, F, Marfia, G A, Mataluni, G, Pardo, J, Péréon, Y, Rajabally, Y A, Santoro, L, Sekiguchi, Y, Stein, B & the IGOS consortium 2022, ' Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study : Differences in methods and reference values ', Clinical Neurophysiology, vol. 138, pp. 231-240 . https://doi.org/10.1016/j.clinph.2021.12.014
Clinical Neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, Vol. 138, no.1, p. 231-240 (2022)
Clinical neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Dipòsit Digital de la UB
Universidad de Barcelona
Arends, S, Drenthen, J, van den Bergh, P, Franssen, H, Hadden, R D M, Islam, B, Kuwabara, S, Reisin, R C, Shahrizaila, N, Amino, H, Antonini, G, Attarian, S, Balducci, C, Barroso, F, Bertorini, T, Binda, D, Brannagan, T H, Buermann, J, Casasnovas, C, Cavaletti, G, Chao, C C, Dimachkie, M M, Fulgenzi, E A, Galassi, G, Gutiérrez Gutiérrez, G, Harbo, T, Hartung, H P, Hsieh, S T, Kiers, L, Lehmann, H C, Manganelli, F, Marfia, G A, Mataluni, G, Pardo, J, Péréon, Y, Rajabally, Y A, Santoro, L, Sekiguchi, Y, Stein, B & the IGOS consortium 2022, ' Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study : Differences in methods and reference values ', Clinical Neurophysiology, vol. 138, pp. 231-240 . https://doi.org/10.1016/j.clinph.2021.12.014
Clinical Neurophysiology, 138, 231-240. Elsevier Ireland Ltd
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, Vol. 138, no.1, p. 231-240 (2022)
Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barre syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods: Prospectively collected clinical and EDx data were availab
Autor:
Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)
Abstract Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neurop
Externí odkaz:
https://doaj.org/article/4509454bec4c439ba3f27087587eae9e
Autor:
Stefano Cotti Piccinelli, Maria T. Bassi, Andrea Citterio, Fiore Manganelli, Stefano Tozza, Filippo M. Santorelli, Serena Gallo Cassarino, Filomena Caria, Enrico Baldelli, Anna Galvagni, Lucio Santoro, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP)
Externí odkaz:
https://doaj.org/article/c07add4d05714af183541debc746d4e7
Autor:
Lucia Ruggiero, Rosa Iodice, Marcello Esposito, Raffaele Dubbioso, Stefano Tozza, Floriana Vitale, Lucio Santoro, Fiore Manganelli
Publikováno v:
Therapeutic Advances in Neurological Disorders, Vol 11 (2018)
Background: Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience. Patient/methods: we describe three Italian children wi
Externí odkaz:
https://doaj.org/article/d464143f66624dd98c156c63ed2949b5
Autor:
Stefano Tozza, Daniele Severi, Emanuele Spina, Andrea Di Paolantonio, Aniello Iovino, Valeria Guglielmino, Francesco Aruta, Maria Nolano, Mario Sabatelli, Lucio Santoro, Marco Luigetti, Fiore Manganelli
Publikováno v:
Journal of Neurology. 269:4281-4287
Background Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis is still challenging and diagnostic delay in non-endemic area is about 3–
Autor:
Marta, Bellofatto, Alessandro, Bertini, Irene, Tramacere, Fiore, Manganelli, Gian Maria, Fabrizi, Angelo, Schenone, Lucio, Santoro, Tiziana, Cavallaro, Marina, Grandis, Stefano C, Previtali, Yuri, Falzone, Isabella, Allegri, Luca, Padua, Costanza, Pazzaglia, Daniela, Calabrese, Paola, Saveri, Aldo, Quattrone, Paola, Valentino, Stefano, Tozza, Luca, Gentile, Massimo, Russo, Anna, Mazzeo, Giuseppe, Vita, Sylvie, Piacentini, Chiara, Pisciotta, Davide, Pareyson
Publikováno v:
European journal of neurologyREFERENCES.
Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot-Marie-Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated.The Modified Fatigue Impact Scale (MFIS) was administered
Autor:
Maria Nolano, Giuseppe Caporaso, Fiore Manganelli, Annamaria Stancanelli, Ilaria Borreca, Stefania Mozzillo, Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Floriana Vitale, Shiwen Koay, Ekawat Vichayanrat, Fernanda Valerio da Silva, Lucio Santoro, Valeria Iodice, Vincenzo Provitera
Publikováno v:
Journal of Parkinson's disease. 12(8)
Background: The role of peripheral phosphorylated-α-Synuclein (p-α-syn) deposition on nerve degeneration in synucleinopathies is still unknown. Objective: To assess the cutaneous neural distribution of p-α-Syn deposits and its correlation with cli
Autor:
Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2635 (2020)
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recentl
Externí odkaz:
https://doaj.org/article/5b6b3f45c2674a0395380962e0671831