Zobrazeno 1 - 10
of 167
pro vyhledávání: '"Alessio Di Fonzo"'
Autor:
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Álvarez, Pau Pastor, Alessio Di Fonzo, Kailash P. Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockmann, Huw R. Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean Christophe Corvol, French Parkinson disease Genetics Study Group (PDG)
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-12 (2024)
Abstract Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson’s disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and i
Externí odkaz:
https://doaj.org/article/70e73e8ef588464cb23a2e9bc5b7be18
Autor:
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania
Publikováno v:
Biomolecules, Vol 14, Iss 8, p 1022 (2024)
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mut
Externí odkaz:
https://doaj.org/article/80dedfbfcdd64727a3844d6d31d2ee1f
Autor:
Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P. Comi, Giovanna Mantovani, Alessio Di Fonzo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Allgrove disease is a rare genetic syndrome characterized by adrenal insufficiency, alacrimia, achalasia and complex neurological involvement. Allgrove disease is due to recessive mutations in the AAAS gene, which encodes for the
Externí odkaz:
https://doaj.org/article/029ee6ac1a4f41e1add62471f6dac83f
Autor:
Daria Messelodi, Silvia Strocchi, Salvatore Nicola Bertuccio, Pascale Baden, Valentina Indio, Federico M. Giorgi, Alberto Taddia, Salvatore Serravalle, Sabrina Valente, Alessio di Fonzo, Emanuele Frattini, Roberto Bernardoni, Annalisa Pession, Daniela Grifoni, Michela Deleidi, Annalisa Astolfi, Andrea Pession
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-13 (2023)
Abstract Gaucher Disease (GD), the most common lysosomal disorder, arises from mutations in the GBA1 gene and is characterized by a wide spectrum of phenotypes, ranging from mild hematological and visceral involvement to severe neurological disease.
Externí odkaz:
https://doaj.org/article/9bd17c548d7444108e9aef7cad700e02
Autor:
Roberto Erro, Giulia Lazzeri, Angelo Fabio Gigante, Andrea Pilotto, Luca Magistrelli, Matteo Bologna, Carmen Terranova, Enrica Olivola, Carlo Dallocchio, Vincenzo Moschella, Francesca Valentino, Francesca Di Biasio, Alessandra Nicoletti, Rosa De Micco, Livia Brusa, Cristiano Sorrentino, Angela Matinella, Salvatore Bertino, Giulia Paparella, Nicola Modugno, Elena Contaldi, Alessandro Padovani, Alessio Di Fonzo, Marialuisa Restaino, Paolo Barone, TITAN study group, Giulia Franco, Anna De Rosa, Lazzaro di Biase, Marcello Esposito, Maria Chiara Malaguti, Raffaella Di Giacopo, Roberto Ceravolo, Francesca Spagnolo, Marta Bianchi, Roberta Vitaliani, Laura Maria Raglione, Francesca Morgante
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundTo date, there are no large studies delineating the clinical correlates of “pure” essential tremor (ET) according to its new definition.MethodsFrom the ITAlian tremor Network (TITAN) database, we extracted data from patients with a diag
Externí odkaz:
https://doaj.org/article/675768f390fe47efbb34d69ec90f6196
Autor:
Giulietta Maria Riboldi, Ricardo A. Vialle, Elisa Navarro, Evan Udine, Katia de Paiva Lopes, Jack Humphrey, Amanda Allan, Madison Parks, Brooklyn Henderson, Kelly Astudillo, Charalambos Argyrou, Maojuan Zhuang, Tamjeed Sikder, J. Oriol Narcis, Shilpa Dilip Kumar, William Janssen, Allison Sowa, Giacomo P. Comi, Alessio Di Fonzo, John F. Crary, Steven J. Frucht, Towfique Raj
Publikováno v:
Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-17 (2022)
Abstract Background Genetic mutations in beta-glucocerebrosidase (GBA) represent the major genetic risk factor for Parkinson’s disease (PD). GBA participates in both the endo-lysosomal pathway and the immune response, two important mechanisms invol
Externí odkaz:
https://doaj.org/article/dbe17cf7cdea4ab8b6a5e2418d509f7c
Autor:
Maria Kedariti, Emanuele Frattini, Pascale Baden, Susanna Cogo, Laura Civiero, Elena Ziviani, Gianluca Zilio, Federico Bertoli, Massimo Aureli, Alice Kaganovich, Mark R. Cookson, Leonidas Stefanis, Matthew Surface, Michela Deleidi, Alessio Di Fonzo, Roy N. Alcalay, Hardy Rideout, Elisa Greggio, Nicoletta Plotegher
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-14 (2022)
Abstract Leucine-rich repeat kinase 2 (LRRK2) is a kinase involved in different cellular functions, including autophagy, endolysosomal pathways, and immune function. Mutations in LRRK2 cause autosomal-dominant forms of Parkinson’s disease (PD). Het
Externí odkaz:
https://doaj.org/article/858ab86634d0401c811792bd3be86640
Autor:
Matteo Vismara, Beatrice Benatti, Gregorio Nicolini, Ilaria Cova, Edoardo Monfrini, Alessio Di Fonzo, Vincenza Fetoni, Caterina A. Viganò, Alberto Priori, Bernardo Dell’Osso
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-20 (2022)
Abstract Objective Bupropion, an antidepressant inhibiting the reuptake of dopamine and noradrenaline, should be useful to treat depressive symptoms in patients with Parkinson’s disease (PD). Limited and conflicting literature data questioned its e
Externí odkaz:
https://doaj.org/article/291c8c4da0424bbca6bcb3e4d0fc843a
Autor:
Andrea C. Kakouri, Christina Votsi, Anastasis Oulas, Paschalis Nicolaou, Massimo Aureli, Giulia Lunghi, Maura Samarani, Giacomo M. Compagnoni, Sabrina Salani, Alessio Di Fonzo, Thalis Christophides, George A. Tanteles, Eleni Zamba-Papanicolaou, Marios Pantzaris, George M. Spyrou, Kyproula Christodoulou
Publikováno v:
Cell & Bioscience, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract Background Spastic ataxias (SAs) encompass a group of rare and severe neurodegenerative diseases, characterized by an overlap between ataxia and spastic paraplegia clinical features. They have been associated with pathogenic variants in a nu
Externí odkaz:
https://doaj.org/article/de99e0b0ac504981bfdd3b7a8d50c5f7
Autor:
Giulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, Andrea Tozzi, Valentina Fioravanti, Edoardo Monfrini, Annalisa Gessani, Jessica Rossi, Isabella Campanini, Andrea Merlo, Dario Ronchi, Manuela Napoli, Rosario Pascarella, Sara Grisanti, Giuseppe Ferrulli, Rossella Sabadini, Alessio Di Fonzo, Angelo Ghidini, Franco Valzania
Publikováno v:
Brain Sciences, Vol 13, Iss 10, p 1467 (2023)
(1) Background: Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is characterized by late-onset cerebellar ataxia, bilateral vestibulopathy, and sensory neuronopathy mostly due to biallelic RFC1 expansion. (2) Objectives:
Externí odkaz:
https://doaj.org/article/2517cdea505e45ee90c705e5ea6f792e