Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Stefano Gambardella"'
Autor:
Ettore Dolcetti, Alessandra Musella, Sara Balletta, Luana Gilio, Antonio Bruno, Mario Stampanoni Bassi, Gianluca Lauritano, Fabio Buttari, Diego Fresegna, Alice Tartacca, Fabrizio Mariani, Federica Palmerio, Valentina Rovella, Rosangela Ferese, Stefano Gambardella, Emiliano Giardina, Annamaria Finardi, Roberto Furlan, Georgia Mandolesi, Diego Centonze, Francesca De Vito
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 10, p 5253 (2024)
MiR-142-3p has recently emerged as key factor in tailoring personalized treatments for multiple sclerosis (MS), a chronic autoimmune demyelinating disease of the central nervous system (CNS) with heterogeneous pathophysiology and an unpredictable cou
Externí odkaz:
https://doaj.org/article/34fdb2f5b95446408ce21f66bdfdac58
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
Autor:
Rosangela Ferese, Simona Scala, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Stefano Gambardella
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPure hereditary spastic paraplegia (SPG) type 4 (SPG4) is caused by mutations of SPAST gene. This study aimed to analyze SPAST variants in SPG4 patients to highlight the occurrence of splicing mutations and combine functional studies to a
Externí odkaz:
https://doaj.org/article/cd13a9fba9c44771b550bdb4a169ec6c
Autor:
Angelo Iannielli, Mirko Luoni, Serena Gea Giannelli, Rosangela Ferese, Gabriele Ordazzo, Matteo Fossati, Andrea Raimondi, Felipe Opazo, Olga Corti, Jochen H. M. Prehn, Stefano Gambardella, Ronald Melki, Vania Broccoli
Publikováno v:
Cell Death and Disease, Vol 13, Iss 10, Pp 1-16 (2022)
Abstract Triplication of the SNCA gene, encoding the protein alpha-Synuclein (αSyn), is a rare cause of aggressive and early-onset parkinsonism. Herein, we generated iPSCs from two siblings with a recently described compact SNCA gene triplication an
Externí odkaz:
https://doaj.org/article/00822ab787424b9bba7317ec699b92da
Autor:
Stefania Zampatti, Cristina Peconi, Giulia Calvino, Rosangela Ferese, Stefano Gambardella, Raffaella Cascella, Jacopo Sebastiani, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina
Publikováno v:
Genes, Vol 14, Iss 8, p 1659 (2023)
Stargardt macular dystrophy is a genetic disorder, but in many cases, the causative gene remains unrevealed. Through a combined approach (whole-exome sequencing and phenotype/family-driven filtering algorithm) and a multilevel validation (internation
Externí odkaz:
https://doaj.org/article/2ed22337c10446869e5616a030b5398b
Autor:
Alessandro Gialluisi, Mafalda Giovanna Reccia, Nicola Modugno, Teresa Nutile, Alessia Lombardi, Luca Giovanni Di Giovannantonio, Sara Pietracupa, Daniela Ruggiero, Simona Scala, Stefano Gambardella, International Parkinson’s Disease Genomics Consortium (IPDGC), Licia Iacoviello, Fernando Gianfrancesco, Dario Acampora, Maurizio D’Esposito, Antonio Simeone, Marina Ciullo, Teresa Esposito
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background Parkinson’s disease (PD) is a neurodegenerative movement disorder affecting 1–5% of the general population for which neither effective cure nor early diagnostic tools are available that could tackle the pathology in the early
Externí odkaz:
https://doaj.org/article/c500f5ffd0724edbbf932717f6b6c0e9
Autor:
Stefania Zampatti, Cristina Peconi, Rosa Campopiano, Stefano Gambardella, Carlo Caltagirone, Emiliano Giardina
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Hexanucleotide expansion in C9orf72 has been related to several phenotypes to date, complicating the clinical recognition of these neurodegenerative disorders. An early diagnosis can improve the management of patients, promoting early administration
Externí odkaz:
https://doaj.org/article/bf38f77ed82b4db8b2f15fe1bbec4529
Autor:
Rosa Campopiano, Rosangela Ferese, Stefania Zampatti, Emiliano Giardina, Francesca Biagioni, Claudio Colonnese, Diego Centonze, Marianna Storto, Fabio Buttari, Edoardo Fraviga, Vania Broccoli, Mirco Fanelli, Francesco Fornai, Stefano Gambardella
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overla
Externí odkaz:
https://doaj.org/article/c9a2937bf28f45e29939108f706d3121
Autor:
Rosangela Ferese, Rosa Campopiano, Simona Scala, Carmelo D’Alessio, Marianna Storto, Fabio Buttari, Diego Centonze, Giancarlo Logroscino, Chiara Zecca, Stefania Zampatti, Francesco Fornai, Vittoria Cianci, Elisabetta Manfroi, Emiliano Giardina, Mauro Magnani, Antonio Suppa, Giuseppe Novelli, Stefano Gambardella
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited motor sensory neuropathy, which clusters a clinically and genetically heterogeneous group of disorders with more than 90 genes associated with different phenotypes. The goal of this st
Externí odkaz:
https://doaj.org/article/5a01b5b786924a3ebbc459928b403257
Autor:
Claudia Strafella, Valerio Caputo, Andrea Termine, Francesca Assogna, Clelia Pellicano, Francesco E. Pontieri, Lucia Macchiusi, Giulietta Minozzi, Stefano Gambardella, Diego Centonze, Paola Bossù, Gianfranco Spalletta, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The present study investigated the association of SNPs involved in the regulation of immune response, cellular degenerative and neuroinflammatory pathways with the susceptibility and progression of idiopathic Parkinson’s Disease (PD). In particular
Externí odkaz:
https://doaj.org/article/729f45a74cc44bca91ecb69c8b1f0ed7