Search Results - "Bisogni, Giulia"

Reassessing IVIg therapy in chronic inflammatory demyelinating polyradiculoneuropathy during COVID-19: a chance to verify the need for chronic maintenance therapy by Romozzi, Marina, Bisogni, Giulia, Sabatelli, Mario, Luigetti, Marco

“…The outbreak of a severe acute respiratory syndrome caused by a novel coronavirus (COVID-19), has raised health concerns for patients with chronic inflammatory…”
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Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers by Salvalaggio, Alessandro, Coraci, Daniele, Cacciavillani, Mario, Obici, Laura, Mazzeo, Anna, Luigetti, Marco, Pastorelli, Francesca, Grandis, Marina, Cavallaro, Tiziana, Bisogni, Giulia, Lozza, Alessandro, Gemelli, Chiara, Gentile, Luca, Ermani, Mario, Fabrizi, Gian Maria, Plasmati, Rosaria, Campagnolo, Marta, Castellani, Francesca, Gasparotti, Roberto, Martinoli, Carlo, Padua, Luca, Briani, Chiara

“…Background Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality…”
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Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis by Salvalaggio, Alessandro, Coraci, Daniele, Obici, Laura, Cacciavillani, Mario, Luigetti, Marco, Mazzeo, Anna, Pastorelli, Francesca, Grandis, Marina, Cavallaro, Tiziana, Bisogni, Giulia, Lozza, Alessandro, Gemelli, Chiara, Gentile, Luca, Russo, Massimo, Ermani, Mario, Fabrizi, Gian Maria, Plasmati, Rosaria, De Napoli, Federica, Campagnolo, Marta, Castellani, Francesca, Salvi, Fabrizio, Fenu, Silvia, Devigili, Grazia, Pareyson, Davide, Gasparotti, Roberto, Rapezzi, Claudio, Martinoli, Carlo, Padua, Luca, Briani, Chiara

“…Axonal polyneuropathy is the main feature of hereditary transthyretin amyloidosis (ATTRv). Nerve morphological abnormalities have been reported, but…”
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A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients by Dobrowolny, Gabriella, Martone, Julie, Lepore, Elisa, Casola, Irene, Petrucci, Antonio, Inghilleri, Maurizio, Morlando, Mariangela, Colantoni, Alessio, Scicchitano, Bianca Maria, Calvo, Andrea, Bisogni, Giulia, Chiò, Adriano, Sabatelli, Mario, Bozzoni, Irene, Musarò, Antonio

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with motor neuron degeneration, muscle atrophy and paralysis. To date,…”
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Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease by LATTANTE, Serena, CONTE, Amelia, ROSSINI, Paolo Maria, SABATELLI, Mario, ZOLLINO, Marcella, LUIGETTI, Marco, DEL GRANDE, Alessandra, MARANGI, Giuseppe, ROMANO, Angela, MARCACCIO, Alessandro, MELEO, Emiliana, BISOGNI, Giulia

“…To quantify the overall contribution of mutations in the currently known amyotrophic lateral sclerosis (ALS) genes in a large cohort of sporadic patients and…”
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Matrin 3 variants are frequent in Italian ALS patients by Marangi, Giuseppe, Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Tasca, Giorgio, Monforte, Mauro, Patanella, Agata Katia, Bisogni, Giulia, Meleo, Emiliana, La Spada, Salvatore, Zollino, Marcella, Sabatelli, Mario

“…Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by loss of motor neurons in the primary motor cortex, brainstem, and…”
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Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center by Luigetti, Marco, Di Paolantonio, Andrea, Bisogni, Giulia, Romano, Angela, Conte, Amelia, Barbato, Francesco, Del Grande, Alessandra, Madia, Francesca, Rossini, Paolo Maria, Lauretti, Liverana, Sabatelli, Mario

“…Introduction Nerve biopsy has been widely used to investigate patients with peripheral neuropathy, and in many centers, it is still a useful diagnostic tool in…”
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Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia by Martello, Francesco, Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Orteschi, Daniela, Luigetti, Marco, Marrucci, Maria Alessandra, Zollino, Marcella, Sabatelli, Mario, Marangi, Giuseppe

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity…”
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Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant by Martello, Francesco, Lattante, Serena, Doronzio, Paolo Niccolò, Conte, Amelia, Bisogni, Giulia, Orteschi, Daniela, Pirozzi, Filomena, Sabatelli, Mario, Zollino, Marcella, Marangi, Giuseppe

“…Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced…”
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hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers by Luigetti, Marco, Romozzi, Marina, Bisogni, Giulia, Cardellini, Davide, Cavallaro, Tiziana, Paolantonio, Andrea Di, Fabrizi, Gian Maria, Fenu, Silvia, Gentile, Luca, Grandis, Marina, Marucci, Gianluca, Massucco, Sara, Mazzeo, Anna, Pareyson, Davide, Romano, Angela, Russo, Massimo, Schenone, Angelo, Tagliapietra, Matteo, Tozza, Stefano, Vita, Giuseppe, Sabatelli, Mario

“…Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for…”
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Nerve Conduction Studies of Dorsal Sural Nerve: Normative Data and Its Potential Application in ATTRv Pre-Symptomatic Subjects by Luigetti, Marco, Guglielmino, Valeria, Romozzi, Marina, Romano, Angela, Di Paolantonio, Andrea, Bisogni, Giulia, Sabatelli, Eleonora, Modoni, Anna, Sabatelli, Mario, Servidei, Serenella, Lo Monaco, Mauro

“…The objective of the study is to provide age-related normative values for dorsal sural nerve (DSN) and to analyse its application during follow-up of…”
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Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience by Luigetti, Marco, Romano, Angela, Di Paolantonio, Andrea, Bisogni, Giulia, Rossi, Salvatore, Conte, Amelia, Madia, Francesca, Sabatelli, Mario

“…Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary…”
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Patisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy by Gentile, Luca, Russo, Massimo, Luigetti, Marco, Bisogni, Giulia, Di Paolantonio, Andrea, Romano, Angela, Guglielmino, Valeria, Arimatea, Ilenia, Sabatelli, Mario, Toscano, Antonio, Vita, Giuseppe, Mazzeo, Anna

“…Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within…”
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TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients by Luigetti, Marco, Conte, Amelia, Del Grande, Alessandra, Bisogni, Giulia, Madia, Francesca, Lo Monaco, Mauro, Laurenti, Luca, Obici, Laura, Merlini, Giampaolo, Sabatelli, Mario

“…Familial amyloid polyneuropathy (FAP) is a rare condition caused by mutations of the transthyretin ( TTR ) gene and it is generally characterized by a…”
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Small Fibre Involvement in Multifocal Motor Neuropathy Explored with Sudoscan: A Single-Centre Experience by Luigetti, Marco, Giovannini, Silvia, Romano, Angela, Bisogni, Giulia, Barbato, Francesco, Di Paolantonio, Andrea, Servidei, Serenella, Granata, Giuseppe, Sabatelli, Mario

“…Objective: Multifocal motor neuropathy (MMN) is a rare inflammatory neuropathy, clinically characterized by exclusive motor involvement. We wished to evaluate…”
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Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care by Luigetti, Marco, Romano, Angela, Di Paolantonio, Andrea, Bisogni, Giulia, Sabatelli, Mario

“…Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the…”
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Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset by Romano, Angela, Guglielmino, Valeria, Bisogni, Giulia, Di Paolantonio, Andrea, Truini, Andrea, Minnella, Angelo Maria, Sciarrone, Maria Ausilia, Vitali, Francesca, Maceroni, Martina, Galosi, Eleonora, Sabatelli, Mario, Luigetti, Marco

“…Background Hereditary transthyretin (ATTRv) amyloidosis is a heterogeneous, progressive, multisystemic disease with a life-threatening course if left…”
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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis by Johnson, Janel O, Chia, Ruth, Miller, Danny E, Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E, Topp, Simon D, Gibbs, J Raphael, Cookson, Mark R, Sabir, Marya S, Dalgard, Clifton L, Troakes, Claire, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P, Dobson-Stone, Carol, Kwok, John B, Bonkowski, Emily S, Palvadeau, Robin, Tienari, Pentti J, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Brown, Jr, Robert H, Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J, Perlman, Seth J, Glass, Ian, Scott, Anna I, Shaw, Christopher E, Basak, A Nazli, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan J, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Scotter, Emma L, Kenna, Kevin P, Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, Ten Asbroek, Anneloor L M A, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Stevic, Zorica, D'Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L, Nicholson, Garth A, Leblond-Manry, Claire, Rouleau, Guy A, Hardiman, Orla, Veldink, Jan H, van den Berg, Leonard H, Al-Chalabi, Ammar, Pall, Hardev, Turner, Martin R

“…Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. To…”
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Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis by Sabatelli, Mario, Moncada, Alice, Conte, Amelia, Lattante, Serena, Marangi, Giuseppe, Luigetti, Marco, Lucchini, Matteo, Mirabella, Massimiliano, Romano, Angela, Del Grande, Alessandra, Bisogni, Giulia, Doronzio, Paolo Niccolo', Rossini, Paolo Maria, Zollino, Marcella

“…Mutations in the gene encoding fused-in-sarcoma (FUS) have been identified in a subset of patients with sporadic and familial amyotrophic lateral sclerosis…”
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ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis by Lattante, Serena, Pomponi, Maria Grazia, Conte, Amelia, Marangi, Giuseppe, Bisogni, Giulia, Patanella, Agata Katia, Meleo, Emiliana, Lunetta, Christian, Riva, Nilo, Mosca, Lorena, Carrera, Paola, Bee, Marco, Zollino, Marcella, Sabatelli, Mario

“…To clarify the possible involvement of intermediate ATXN1 alleles as risk factors for amyotrophic lateral sclerosis (ALS), we tested ATXN1 in a cohort of 1146…”
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