Search Results - "Mata, Sabrina"

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing by Marinella, Gemma, Astrea, Guja, Buchignani, Bianca, Cassandrini, Denise, Doccini, Stefano, Filosto, Massimiliano, Galatolo, Daniele, Gallone, Salvatore, Giannini, Fabio, Lopergolo, Diego, Maioli, Maria Antonietta, Magri, Francesca, Malandrini, Alessandro, Mandich, Paola, Mari, Francesco, Massa, Roberto, Mata, Sabrina, Melani, Federico, Moggio, Maurizio, Mongini, Tiziana E, Pasquariello, Rosa, Pegoraro, Elena, Ricci, Federica, Ricci, Giulia, Rodolico, Carmelo, Rubegni, Anna, Siciliano, Gabriele, Sperti, Martina, Ticci, Chiara, Tonin, Paola, Santorelli, Filippo M, Battini, Roberta

“…To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected…”
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Epidemiology of amyotrophic lateral sclerosis in the north east Tuscany in the 2018–2021 period by Mata, Sabrina, Bussotti, Matteo, Del Mastio, Monica, Barilaro, Alessandro, Piersanti, Patrizia, Lombardi, Maria, Cincotta, Massimo, Torricelli, Sara, Leccese, Deborah, Sperti, Martina, Rodolico, Gabriele Rosario, Nacmias, Benedetta, Sorbi, Sandro

“…The incidence of Amyotrophic Lateral Sclerosis (ALS) varies among different geographical areas and seems to increase over time. This study aimed to examine the…”
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AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location by Lai, Meizan, Hughes, Ethan G., Peng, Xiaoyu, Zhou, Lei, Gleichman, Amy J., Shu, Huidy, Matà, Sabrina, Kremens, Daniel, Vitaliani, Roberta, Geschwind, Michael D., Bataller, Luis, Kalb, Robert G., Davis, Rebecca, Graus, Francesc, Lynch, David R., Balice-Gordon, Rita, Dalmau, Josep

“…Objective To report the clinical and immunological features of a novel autoantigen related to limbic encephalitis (LE) and the effect of patients' antibodies…”
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The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes by Donatelli, Graziella, Bianchi, Francesca, Migaleddu, Gianmichele, Frosini, Daniela, Matà, Sabrina, Santorelli, Filippo Maria, Cosottini, Mirco

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Parkinson-ALS with a novel MAPT variant by Ferrari, Camilla, Ingannato, Assunta, Matà, Sabrina, Ramat, Silvia, Caremani, Luca, Bagnoli, Silvia, Bessi, Valentina, Sorbi, Sandro, Nacmias, Benedetta

“…The mutations on microtubule associated protein tau ( MAPT ) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as…”
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Neuromyelitis optica: An update by Matà, Sabrina, Lolli, Francesco

“…Abstract Neuromyelitis optica (NMO) is an inflammatory condition characterized by the selective involvement of the optic nerves and spinal cord, and by a…”
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Polyneuropathy and monoclonal gammopathy of undetermined significance (MGUS); update of a clinical experience by Matà, Sabrina, Torricelli, Sara, Barilaro, Alessandro, Grippo, Antonello, Forleo, Paolo, Del Mastio, Monica, Sorbi, Sandro

“…Polyneuropathies associated with monoclonal gammopathy of undetermined significance (MGUS) encompass a group of phenotypically and immunologically…”
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The Italian multicenter experience with edaravone in amyotrophic lateral sclerosis by Lunetta, Christian, Moglia, Cristina, Lizio, Andrea, Caponnetto, Claudia, Dubbioso, Raffaele, Giannini, Fabio, Matà, Sabrina, Mazzini, Letizia, Sabatelli, Mario, Siciliano, Gabriele, Simone, Isabella Laura, Sorarù, Gianni, Toriello, Antonella, Trojsi, Francesca, Vedovello, Marcella, D’Ovidio, Fabrizio, Filippi, Massimo, Calvo, Andrea

“…Objectives The aim of the study is to analyze the ALS disease progression and respiratory function of Italian patients treated with edaravone (EVN), as well as…”
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Comparison of the diagnostic accuracy of the 2021 EAN/PNS and 2010 EFNS/PNS diagnostic criteria for chronic inflammatory demyelinating polyradiculoneuropathy by Doneddu, Pietro Emiliano, De Lorenzo, Alberto, Manganelli, Fiore, Cocito, Dario, Fazio, Raffaella, Briani, Chiara, Mazzeo, Anna, Filosto, Massimiliano, Cosentino, Giuseppe, Benedetti, Luana, Schenone, Angelo, Marfia, Girolama Alessandra, Antonini, Giovanni, Matà, Sabrina, Luigetti, Marco, Liberatore, Giuseppe, Spina, Emanuele, Peci, Erdita, Strano, Camilla, Cacciavillani, Mario, Gentile, Luca, Cotti Piccinelli, Stefano, Cortese, Andrea, Bianchi, Elisa, Nobile-Orazio, Eduardo

“…ObjectivesTo compare the sensitivity and specificity of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) diagnostic criteria for…”
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Comparison of the diagnostic accuracy of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society and American Association of Electrodiagnostic Medicine diagnostic criteria for multifocal motor neuropathy by Doneddu, Pietro Emiliano, Gallo, Chiara, Gentile, Luca, Cocito, Dario, Falzone, Yuri, Di Stefano, Vincenzo, Inghilleri, Maurizio, Cosentino, Giuseppe, Matà, Sabrina, Mazzeo, Anna, Filosto, Massimiliano, Peci, Erdita, Sorrenti, Benedetta, Brighina, Filippo, Moret, Federica, Vegezzi, Elisa, Sperti, Martina, Risi, Barbara, Nobile‐Orazio, Eduardo

“…Background and Purpose This study was undertaken to compare the sensitivity and specificity of the 2010 European Federation of Neurological…”
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Retrospective observational study on the use of acetyl-l-carnitine in ALS by Sassi, Serena, Bianchi, Elisa, Diamanti, Luca, Tornabene, Danilo, Sette, Elisabetta, Medici, Doriana, Matà, Sabrina, Leccese, Deborah, Sperti, Martina, Martinelli, Ilaria, Ghezzi, Andrea, Mandrioli, Jessica, Iuzzolino, Valentina Virginia, Dubbioso, Raffaele, Trojsi, Francesca, Passaniti, Carla, D’Alvano, Giulia, Filosto, Massimiliano, Padovani, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Zinno, Lucia, Nuredini, Andi, Bongioanni, Paolo, Dolciotti, Cristina, Canali, Elena, Toschi, Giulia, Petrucci, Antonio, Perna, Alessia, Riso, Vittorio, Inghilleri, Maurizio, Libonati, Laura, Cambieri, Chiara, Pupillo, Elisabetta

“…ALCAR (Acetyl-L-carnitine) is a donor of acetyl groups and increases the intracellular levels of carnitine, the primary transporter of fatty acids across the…”
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Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review by Leccese, Deborah, Rodolico, Gabriele Rosario, Sperti, Martina, Cassandrini, Denise, Bartolini, Marco, Ingannato, Assunta, Nacmias, Benedetta, Bracco, Laura, Malandrini, Alessandro, Santorelli, Filippo Maria, Bessi, Valentina, Matà, Sabrina

“…Mutations in the valosin-containing protein (VCP) gene cause autosomal dominant multisystem proteinopathy 1 (MSP1), characterized by a variable combination of…”
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Anti-MAG IgM: differences in antibody tests and correlation with clinical findings by Matà, Sabrina, Ambrosini, Stefano, Saccomanno, Domenica, Biagioli, Tiziana, Carpo, Marinella, Amantini, Aldo, Giannini, Fabio, Barilaro, Alessandro, Toscani, Lucia, Del Mastio, Monica, Comi, Giacomo Pietro, Sorbi, Sandro

“…Objectives Anti-myelin-associated glycoprotein (MAG) antibody is associated with clinically heterogeneous polyneuropathies. Our purpose was to compare…”
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Expanding the clinical and genetic spectrum of pathogenic variants in STIM1 by Ticci, Chiara, Cassandrini, Denise, Rubegni, Anna, Riva, Beatrice, Vattemi, Gaetano, Matà, Sabrina, Ricci, Giulia, Baldacci, Jacopo, Guglielmi, Valeria, Di Muzio, Antonio, Malandrini, Alessandro, Tonin, Paola, Siciliano, Gabriele, Federico, Antonio, Genazzani, Armando A., Santorelli, Filippo M., Merlini, Luciano

“…Introduction/Aims Stromal interaction molecule 1 (STIM1) is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Autosomal dominant mutations…”
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Neurofilament Light Chain and Intermediate HTT Alleles as Combined Biomarkers in Italian ALS Patients by Ingannato, Assunta, Bagnoli, Silvia, Mazzeo, Salvatore, Bessi, Valentina, Matà, Sabrina, Del Mastio, Monica, Lombardi, Gemma, Ferrari, Camilla, Sorbi, Sandro, Nacmias, Benedetta

“…To study the possible implication of the two biomarkers, intermediate alleles (IAs) of the Huntingtin (HTT) gene and neurofilament light chain (NfL) levels in…”
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Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late-onset axonal neuropathies by Geroldi, Alessandro, La Barbera, Andrea, Mammi, Alessia, Origone, Paola, Gaudio, Andrea, Ponti, Clarissa, Sanguineri, Francesca, Matà, Sabrina, Sperti, Martina, Carboni, Ilaria, Bellone, Emilia, Gotta, Fabio, Gemelli, Chiara, Massucco, Sara, Valeria, Guglielmino, Marinelli, Lucio, Grandis, Marina, Bisogni, Giulia, Sabatelli, Mario, Piscosquito, Giuseppe, Esposito, Gabriella, Schenone, Angelo, Manganelli, Fiore, Mandich, Paola, Tozza, Stefano, Luigetti, Marco

“…Since 2016, biallelic mutations in the membrane metalloendopeptidase (MME) gene have been associated with late-onset recessive CMT2 (CMT2T). More recently,…”
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Temporal profile of anti-ganglioside antibodies and their relation to clinical parameters and treatment in Guillain–Barré syndrome by Press, Rayomand, Matá, Sabrina, Lolli, Francesco, Zhu, J, Andersson, Thomas, Link, Hans

“…Elevated anti-ganglioside antibody levels mainly of anti-GM1 and anti-GD1a specificities have been reported in THE serum of patients with Guillain–Barré…”
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Assessment of diagnostic criteria for multifocal motor neuropathy in patients included in the Italian database by Doneddu, Pietro Emiliano, Gentile, Luca, Cocito, Dario, Fazio, Raffaella, Luigetti, Marco, Briani, Chiara, Filosto, Massimiliano, Siciliano, Gabriele, Benedetti, Luana, Antonini, Giovanni, Matà, Sabrina, Marfia, Girolama Alessandra, Inghilleri, Maurizio, Manganelli, Fiore, Cosentino, Giuseppe, Brighina, Filippo, Carpo, Marinella, Carta, Francesca, Mazzeo, Anna, Peci, Erdita, Strano, Camilla, Romano, Angela, Campagnolo, Marta, Cotti-Piccinelli, Stefano, Viola, Divina Valeria, Germano, Francesco, Leonardi, Luca, Sperti, Martina, Mataluni, Giorgia, Ceccanti, Marco, Spina, Emanuele, Vegezzi, Elisa, Di Stefano, Vincenzo, Nobile-Orazio, Eduardo

“…This study aimed to assess the diagnostic criteria, ancillary investigations and treatment response using real-life data in multifocal motor neuropathy (MMN)…”
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Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy by Doneddu, Pietro Emiliano, Akyil, Houseyin, Manganelli, Fiore, Briani, Chiara, Cocito, Dario, Benedetti, Luana, Mazzeo, Anna, Fazio, Raffaella, Filosto, Massimiliano, Cosentino, Giuseppe, Di Stefano, Vincenzo, Antonini, Giovanni, Marfia, Girolama Alessandra, Inghilleri, Maurizio, Siciliano, Gabriele, Clerici, Angelo Maurizio, Carpo, Marinella, Schenone, Angelo, Luigetti, Marco, Lauria, Giuseppe, Matà, Sabrina, Rosso, Tiziana, Minicuci, Giacomo Maria, Lucchetta, Marta, Cavaletti, Guido, Liberatore, Giuseppe, Spina, Emanuele, Campagnolo, Marta, Peci, Erdita, Germano, Francesco, Gentile, Luca, Strano, Camilla, Cotti Piccinelli, Stefano, Vegezzi, Elisa, Leonardi, Luca, Mataluni, Giorgia, Ceccanti, Marco, Schirinzi, Erika, Romozzi, Marina, Nobile-Orazio, Eduardo, Doneddu, Pietro Emiliano, Lorenzo, Alberto De, Liberatore, Giuseppe, Nobile-Orazio, Eduardo, Cocito, Dario, Manganelli, Fiore, Spina, Emanuele, Pisano, Enrica, Santoro, Lucio, Velardo, Daniele, Strano, Camilla, Fazio, Raffaella, Ruiz, Marta, Cacciavillani, Mario, Castellani, Francesca, Briani, Chiara, Piccinelli, Stefano Cotti, Caria, Filomena, Filosto, Massimiliano, Bianchi, Elisa, Beghi, Ettore, Verrengia, Elena Pinuccia, Jann, Stefano, Toscano, Antonio, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Leonardi, Luca, Antonini, Giovanni, Cosentino, Giuseppe, Callegari, Ilaria, Cortese, Andrea, Mataluni, Giorgia, Marfia, Girolama Alessandra, Clerici, Angelo Maurizio, Scrascia, Federica, Carpo, Marinella, Schenone, Angelo, Benedetti, Luana, Cabona, Corrado, Beronio, Alessandro, Schirinzi, Erika, Siciliano, Gabriele, Luigetti, Marco, Dacci, Patrizia, Lauria, Giuseppe, Rosso, Tiziana, Balducci, Claudia, Cavaletti, Guido, Sabatelli, Mario, Peci, Erdita

“…BackgroundTo assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory…”
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Validation of the DYALS (dysphagia in amyotrophic lateral sclerosis) questionnaire for the evaluation of dysphagia in ALS patients by Diamanti, Luca, Borrelli, Paola, Dubbioso, Raffaele, Capasso, Margherita, Morelli, Claudia, Lunetta, Christian, Petrucci, Antonio, Mora, Gabriele, Volanti, Paolo, Inghilleri, Maurizio, Tremolizzo, Lucio, Mandrioli, Jessica, Mazzini, Letizia, Vedovello, Marcella, Siciliano, Gabriele, Filosto, Massimiliano, Matà, Sabrina, Montomoli, Cristina

“…Background Dysphagia is a common symptom during the trajectory of ALS, and it can significantly impact on the quality of life and prognosis of patients…”
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