Search Results - "Benigni, Michele"

Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort by Claudia, Ricci, Stefania, Battistini, Francesca, Avemaria, Michele, Benigni, Claudia, Tarlarini, Fabio, Giannini, Massimo, Corbo, Christian, Lunetta, Silvana, Penco

“…Chromogranins were reported to interact specifically with mutant forms of superoxide dismutase that are linked to amyotrophic lateral sclerosis (ALS)…”
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Identification of miRNAs as Potential Biomarkers in Cerebrospinal Fluid from Amyotrophic Lateral Sclerosis Patients by Benigni, Michele, Ricci, Claudia, Jones, Ashley R., Giannini, Fabio, Al-Chalabi, Ammar, Battistini, Stefania

“…Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disorder. Since no diagnostic laboratory test exists, the identification of…”
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis by Noyce, Alastair J., Hemani, Gibran, Mora, Gabriele, Bartolomei, Ilaria, Benigni, Michele, Borghero, Giuseppe, Brunetti, Maura, Calvo, Andrea, Cammarosano, Stefania, Cannas, Antonino, Caponnetto, Claudia, Casale, Federico, Cavallaro, Sebastiano, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Corrado, Lucia, Costantino, Emanuela, D'Alfonso, Sandra, Femiano, Cinzia, Ferrarese, Carlo, Fini, Nicola, Floris, Gianluca, Grassano, Maurizio, Lattante, Serena, Logroscino, Giancarlo, Loi, Daniela, Mancardi, Gianluigi, Mandich, Paola, Manera, Umberto, Marinou, Kalliopi, Marrali, Giuseppe, Marrosu, Maria Giovanna, Mazzini, Letizia, Melis, Maurizio, Messina, Sonia, Mora, Gabriele, Occhineri, Patrizia, Origone, Paola, Pani, Carla, Petrucci, Antonio, Pirisi, Angelo, Restagno, Gabriella, Ricci, Claudia, Riva, Nilo, Sabatelli, Mario, Santarelli, Marialuisa, Spataro, Rossella, Tanel, Raffaella, Tremolizzo, Lucio, Volanti, Paolo, Zollino, Marcella, Arepalli, Sampath, Bowser, Robert, Broach, James, Camu, William, Chia, Ruth, Chiò, Adriano, Ding, Jinhui, Dunckley, Travis L., Eicher, John D., Faghri, Faraz, Feldman, Eva, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Hardy, John, Harms, Matthew B., Heiman‐Patterson, Terry D., Kamel, Freya, MacGowan, Daniel J.L., Maragakis, Nicholas J., Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Nicolas, Aude, Orrell, Richard W., Pamphlett, Roger, Pickering‐Brown, Stuart, Pioro, Erik, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Rothstein, Jeffrey D., Salvi, Erika, Sendtner, Michael, Simmons, Zachary, Stone, David C., Sulkava, Raimo, Troncoso, Juan C., Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Tienari, Pentti J., Stone, David J., Nalls, Mike A., Singleton, Andrew B., Traynor, Bryan J.

“…Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression and…”
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Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT^sub 5â[euro]"8^ Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) by Benigni, Michele, Battistini, Stefania, Ricci, Claudia

“…Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine expressed in many different cell types and implicated in the pathogenesis of…”
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Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT₅–₈ Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) by Benigni, Michele, Battistini, Stefania, Ricci, Claudia

“…Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine expressed in many different cell types and implicated in the pathogenesis of…”
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Genotyping of Macrophage Migration Inhibitory Factor (MIF) CATT sub(5-8) Repeat Polymorphism by Denaturing High-Performance Liquid Chromatography (DHPLC) by Benigni, Michele, Battistini, Stefania, Ricci, Claudia

“…Macrophage migration inhibitory factor (MIF) is a proinflammatory cytokine expressed in many different cell types and implicated in the pathogenesis of…”
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Corrigendum to “Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort” [GENE 568/2 (2015) 186–189] by Ricci, Claudia, Battistini, Stefania, Avemaria, Francesca, Benigni, Michele, Tarlarini, Claudia, Giannini, Fabio, Corbo, Massimo, Lunetta, Christian, Penco, Silvana

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TBK1 is associated with ALS and ALS-FTD in Sardinian patients by Borghero, Giuseppe, MD, Pugliatti, Maura, MD, PhD, Marrosu, Francesco, MD, Marrosu, Maria Giovanna, MD, Murru, Maria Rita, MSc, Floris, Gianluca, MD, Cannas, Antonino, MD, Occhineri, Patrizia, MD, Cau, Tea B., MD, Loi, Daniela, MD, Ticca, Anna, MD, Traccis, Sebastiano, MD, Manera, Umberto, MD, Canosa, Antonio, MD, PhD, Moglia, Cristina, MD, PhD, Calvo, Andrea, MD, PhD, Barberis, Marco, MSc, Brunetti, Maura, MSc, Gibbs, J.Raphael, PhD, Renton, Alan E., PhD, Errichiello, Edoardo, MSc, Zoledziewska, Magdalena, PhD, Mulas, Antonella, PhD, Qian, Yong, PhD, Din, Jun, PhD, Pliner, Hannah A., PhD, Traynor, Bryan J., MD, PhD, Chiò, Adriano, MD, FAAN

“…Abstract Recently, mutations in the TANK-binding kinase 1 ( TBK1 ) gene were identified as a cause amyotrophic lateral sclerosis (ALS) with or without comorbid…”
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Lack of mutations of the telomerase RNA component in familial papillary thyroid cancer with short telomeres by Cantara, Silvia, Capuano, Serena, Capezzone, Marco, Benigni, Michele, Pisu, Milena, Marchisotta, Stefania, Pacini, Furio

“…The occurrence of familial papillary thyroid cancer (FPTC) is well established but no susceptibility genes for this disease have been discovered. Our group has…”
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Telomere Length in Neoplastic and Nonneoplastic Tissues of Patients with Familial and Sporadic Papillary Thyroid Cancer by Capezzone, Marco, Cantara, Silvia, Marchisotta, Stefania, Busonero, Giulia, Formichi, Caterina, Benigni, Michele, Capuano, Serena, Toti, Paolo, Pazaitou-Panayiotou, Kalliopi, Caruso, Giuseppe, Carli, Anton Ferdinando, Palummo, Nazzareno, Pacini, Furio

“…Introduction: Many studies have found an association between altered telomere length (TL), both attrition or elongation, and cancer phenotype. Recently, we…”
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No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population by Ricci, Claudia, Penco, Silvana, Benigni, Michele, Mosca, Lorena, Tarlarini, Claudia, Lunetta, Christian, Giannini, Fabio, Corbo, Massimo, Battistini, Stefania

“…Abstract The c.677C>T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene ( MTHFR ) has been recently associated with susceptibility to sporadic…”
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HFE p.H63D polymorphism does not influence ALS phenotype and survival by Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J, Johnson, Janel O, Nalls, Mike A, Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Monsurrò, Maria Rosaria, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O, Nilo, Riva, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Murru, Maria Rita, Mandich, Paola, Zollino, Marcella, Conforti, Francesca L, Penco, Silvana, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella

“…Abstract It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and…”
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ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion by Chiò, Adriano, Mora, Gabriele, Sabatelli, Mario, Caponnetto, Claudia, Lunetta, Christian, Traynor, Bryan J, Johnson, Janel O, Nalls, Mike A, Calvo, Andrea, Moglia, Cristina, Borghero, Giuseppe, Trojsi, Francesca, La Bella, Vincenzo, Volanti, Paolo, Simone, Isabella, Salvi, Fabrizio, Logullo, Francesco O, Riva, Nilo, Carrera, Paola, Giannini, Fabio, Mandrioli, Jessica, Tanel, Raffaella, Capasso, Margherita, Tremolizzo, Lucio, Battistini, Stefania, Murru, Maria Rita, Origone, Paola, Zollino, Marcella, Penco, Silvana, Mazzini, Letizia, D'Alfonso, Sandra, Restagno, Gabriella, Brunetti, Maura, Barberis, Marco, Conforti, Francesca L

“…Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic…”
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No association of MTHFR c.677C&; gt; T variant with sporadic ALS in an Italian population by Ricci, Claudia, Penco, Silvana, Benigni, Michele, Mosca, Lorena, Tarlarini, Claudia, Lunetta, Christian, Giannini, Fabio, Corbo, Massimo, Battistini, Stefania

“…The c.677C>T polymorphism in the 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been recently associated with susceptibility to sporadic amyotrophic…”
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Lack of association of PON polymorphisms with sporadic ALS in an Italian population by Ricci, Claudia, Battistini, Stefania, Cozzi, Lorena, Benigni, Michele, Origone, Paola, Verriello, Lorenzo, Lunetta, Christian, Cereda, Cristina, Milani, Pamela, Greco, Giuseppe, Patrosso, Maria Cristina, Causarano, Renzo, Caponnetto, Claudia, Giannini, Fabio, Corbo, Massimo, Penco, Silvana

“…Abstract Paraoxonase ( PON ) gene polymorphisms have been associated with susceptibility to sporadic amyotrophic lateral sclerosis (ALS). We have investigated…”
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Severe familial ALS with a novel exon 4 mutation (L106F) in the SOD1 gene by Battistini, Stefania, Ricci, Claudia, Lotti, Enrico Maria, Benigni, Michele, Gagliardi, Stella, Zucco, Riccardo, Bondavalli, Massimo, Marcello, Norina, Ceroni, Mauro, Cereda, Cristina

“…Abstract Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease associated with a positive familial history in 5–10% of ALS cases. Mutations in the…”
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A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS by Ricci, Claudia, Benigni, Michele, Battistini, Stefania, Greco, Giuseppe, Torzini, Antonio, Giannini, Fabio

“…Abstract Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Although the mechanism by which…”
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A novel exon 1 mutation (G10R) in the SOD1 gene in a patient with familial ALS by Ricci, Claudia, Benigni, Michele, Battistini, Stefania, Greco, Giuseppe, Torzini, Antonio, Giannini, Fabio

“…Mutations in the superoxide dismutase-1 (SOD1) gene have been found in 12-23% of patients with a diagnosis of ALS. Although the mechanism by which mutant SOD1…”
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