Zobrazeno 1 - 10
of 515
pro vyhledávání: '"Vincenzo SILANI"'
Autor:
Simone Pierro, Federico Verde, Alessio Maranzano, Anna De Gobbi, Eleonora Colombo, Alberto Doretti, Stefano Messina, Luca Maderna, Antonia Ratti, Floriano Girotti, Francesca Andreetta, Vincenzo Silani, Claudia Morelli, Nicola Ticozzi
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Background Anti-IgLON5 disease is an autoimmune encephalitis overlapping with neurodegenerative disorders due to pathological accumulation of hyperphosphorylated tau. It is characterized by several clinical manifestations determined by invol
Externí odkaz:
https://doaj.org/article/d3be54df1b004584a48b3827f1bb0ea8
Autor:
Viktoriia Iakovleva, Federico Verde, Claudia Cinnante, Alessandro Sillani, Giorgio Conte, Elena Corsini, Emilio Ciusani, Alessandra Erbetta, Vincenzo Silani, Nicola Ticozzi
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-7 (2024)
Abstract Background Bibrachial amyotrophy associated with an extradural CSF collection and infratentorial superficial siderosis (SS) are rare conditions that may occasionally mimic ALS. Both disorders are assumed to be due to dural tears. Case presen
Externí odkaz:
https://doaj.org/article/74a19bd1d82041adae6d240c279f62ed
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Autor:
Edoardo Nicolò Aiello, Valeria Elisa Contarino, Giorgio Conte, Federica Solca, Beatrice Curti, Alessio Maranzano, Silvia Torre, Silvia Casale, Alberto Doretti, Eleonora Colombo, Federico Verde, Vincenzo Silani, Chunlei Liu, Claudia Cinnante, Fabio Maria Triulzi, Claudia Morelli, Barbara Poletti, Nicola Ticozzi
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundThis study aimed to assess whether quantitative susceptibility imaging (QSM)-based measures of iron accumulation in the cerebellum predict cognitive and behavioral features in non-demented amyotrophic lateral sclerosis (ALS) patients.Method
Externí odkaz:
https://doaj.org/article/507083f7f129481b916d31c029cd42ff
Autor:
Francesca Conca, Valentina Esposito, Eleonora Catricalà, Rosa Manenti, Federica L’Abbate, Davide Quaranta, Guido Maria Giuffrè, Federica Rossetto, Federica Solca, Beatrice Orso, Emanuela Inguscio, Valeria Crepaldi, Maddalena De Matteis, Emanuela Rotondo, Marina Manera, Giulia Caruso, Valentina Catania, Elisa Canu, Francesco Rundo, Matteo Cotta Ramusino, Massimo Filippi, Cira Fundarò, Federica Piras, Andrea Arighi, Pietro Tiraboschi, Michelangelo Stanzani Maserati, Matteo Pardini, Barbara Poletti, Vincenzo Silani, Camillo Marra, Sonia Di Tella, Maria Cotelli, Raffaele Lodi, Fabrizio Tagliavini, Stefano Francesco Cappa
Publikováno v:
Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-9 (2024)
Abstract Background The identification and staging of Alzheimer’s Disease (AD) represent a challenge, especially in the prodromal stage of Mild Cognitive Impairment (MCI), when cognitive changes can be subtle. Worldwide efforts were dedicated to se
Externí odkaz:
https://doaj.org/article/8462b35ec7584d5ab4a209bc40f72b6f
Autor:
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impac
Externí odkaz:
https://doaj.org/article/50645335f24240a3b4537c13391b28b5
Autor:
Albert C. Ludolph, Harish Grandjean, Evy Reviers, Valentina De Micheli, Cosetta Bianchi, Leonardo Cardosi, Hermann Russ, Vincenzo Silani
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract The Patient Preference Survey aims to understand unmet needs related to riluzole management in people with Amyotrophic Lateral Sclerosis (ALS) and to identify which characteristics of a new formulation could better match their preferences. T
Externí odkaz:
https://doaj.org/article/d407cf84b7ea4996be304164d51c6ea4
Autor:
Sarah Opie-Martin, Alfredo Iacoangeli, Simon D. Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P. Spargo, Ahmad Al-Khleifat, Kelly L. Williams, Jennifer Jockel-Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna-Yasek, Lu Tang, Pamela J. Shaw, Adriano Chio, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesus S. Mora, Wim Robberecht, Philip Van Damme, Russell McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stevic, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dong-sheng Fan, Florence Esselin, Elisa de la Cruz, William Camu, Nazli A. Basak, Teepu Siddique, Timothy Miller, Robert H. Brown, Ammar Al-Chalabi, Christopher E. Shaw
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/8e0ad59b00f44e48822c11311414e619
Autor:
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, th
Externí odkaz:
https://doaj.org/article/a63c0e0266e34366b30660e184a94201
Autor:
Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, Vincenzo Silani
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionHigh repeat expansion (HRE) alleles in C9orf72 have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretati
Externí odkaz:
https://doaj.org/article/48c2074ccdf6430aa36dbc406509d0c2