Author: "Novelli, Valeria" - Searchworks@Jio Institute Digital Library Search Results

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169 results on '"Novelli, Valeria"'

1. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

Author: Manzoni, Claudia, Kia, Demis A, Ferrari, Raffaele, Leonenko, Ganna, Costa, Beatrice, Saba, Valentina, Jabbari, Edwin, Tan, Manuela MX, Albani, Diego, Alvarez, Victoria, Alvarez, Ignacio, Andreassen, Ole A, Angiolillo, Antonella, Arighi, Andrea, Baker, Matt, Benussi, Luisa, Bessi, Valentina, Binetti, Giuliano, Blackburn, Daniel J, Boada, Merce, Boeve, Bradley F, Borrego-Ecija, Sergi, Borroni, Barbara, Bråthen, Geir, Brooks, William S, Bruni, Amalia C, Caroppo, Paola, Bandres-Ciga, Sara, Clarimon, Jordi, Colao, Rosanna, Cruchaga, Carlos, Danek, Adrian, de Boer, Sterre CM, de Rojas, Itziar, di Costanzo, Alfonso, Dickson, Dennis W, Diehl-Schmid, Janine, Dobson-Stone, Carol, Dols-Icardo, Oriol, Donizetti, Aldo, Dopper, Elise, Durante, Elisabetta, Ferrari, Camilla, Forloni, Gianluigi, Frangipane, Francesca, Fratiglioni, Laura, Kramberger, Milica G, Galimberti, Daniela, Gallucci, Maurizio, García-González, Pablo, Ghidoni, Roberta, Giaccone, Giorgio, Graff, Caroline, Graff-Radford, Neill R, Grafman, Jordan, Halliday, Glenda M, Hernandez, Dena G, Hjermind, Lena E, Hodges, John R, Holloway, Guy, Huey, Edward D, Illán-Gala, Ignacio, Josephs, Keith A, Knopman, David S, Kristiansen, Mark, Kwok, John B, Leber, Isabelle, Leonard, Hampton L, Libri, Ilenia, Lleo, Alberto, Mackenzie, Ian R, Madhan, Gaganjit K, Maletta, Raffaele, Marquié, Marta, Maver, Ales, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce L, Morris, Christopher M, Morris, Huw R, Nacmias, Benedetta, Newton, Judith, Nielsen, Jørgen E, Nilsson, Christer, Novelli, Valeria, Padovani, Alessandro, Pal, Suvankar, Pasquier, Florence, Pastor, Pau, Perneczky, Robert, Peterlin, Borut, Petersen, Ronald C, Piguet, Olivier, AL. Pijnenburg, Yolande, Puca, Annibale A, Rademakers, Rosa, Rainero, Innocenzo, Reus, Lianne M, Richardson, Anna MT, and Riemenschneider, Matthias
Subjects: Biological Sciences, Health Sciences, Genetics, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Alzheimer's Disease, Acquired Cognitive Impairment, Parkinson's Disease, Brain Disorders, Neurodegenerative, Alzheimer's Disease Related Dementias (ADRD), Dementia, Human Genome, Rare Diseases, Aging, Frontotemporal Dementia (FTD), 2.1 Biological and endogenous factors, Neurological, Humans, Frontotemporal Dementia, tau Proteins, Genome-Wide Association Study, Apolipoproteins E, Male, Female, Genetic Predisposition to Disease, Aged, Polymorphism, Single Nucleotide, Genetic Loci, Middle Aged, Case-Control Studies, Myelin Proteins, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract: Frontotemporal dementia (FTD) is the second most common cause of early-onset dementia after Alzheimer disease (AD). Efforts in the field mainly focus on familial forms of disease (fFTDs), while studies of the genetic etiology of sporadic FTD (sFTD) have been less common. In the current work, we analyzed 4,685 sFTD cases and 15,308 controls looking for common genetic determinants for sFTD. We found a cluster of variants at the MAPT (rs199443; p = 2.5 × 10-12, OR = 1.27) and APOE (rs6857; p = 1.31 × 10-12, OR = 1.27) loci and a candidate locus on chromosome 3 (rs1009966; p = 2.41 × 10-8, OR = 1.16) in the intergenic region between RPSA and MOBP, contributing to increased risk for sFTD through effects on expression and/or splicing in brain cortex of functionally relevant in-cis genes at the MAPT and RPSA-MOBP loci. The association with the MAPT (H1c clade) and RPSA-MOBP loci may suggest common genetic pleiotropy across FTD and progressive supranuclear palsy (PSP) (MAPT and RPSA-MOBP loci) and across FTD, AD, Parkinson disease (PD), and cortico-basal degeneration (CBD) (MAPT locus). Our data also suggest population specificity of the risk signals, with MAPT and APOE loci associations mainly driven by Central/Nordic and Mediterranean Europeans, respectively. This study lays the foundations for future work aimed at further characterizing population-specific features of potential FTD-discriminant APOE haplotype(s) and the functional involvement and contribution of the MAPT H1c haplotype and RPSA-MOBP loci to pathogenesis of sporadic forms of FTD in brain cortex.
Published: 2024

2. Role of advanced CMR features in identifying a positive genotype of hypertrophic cardiomyopathy

Author: Mushtaq, Saima, Chiesa, Mattia, Novelli, Valeria, Sommariva, Elena, Biondi, Maria Luisa, Manzoni, Martina, Florio, Alessio, Lampus, Maria Luisa, Avallone, Carlo, Zocchi, Chiara, Ianniruberto, Monica, Zannoni, Jessica, Nudi, Alessandro, Arcudi, Alessandra, Annoni, Andrea, Baggiano, Andrea, Berna, Giovanni, Carerj, Maria Ludovica, Cannata, Francesco, Celeste, Fabrizio, Del Torto, Alberico, Fazzari, Fabio, Formenti, Alberto, Frappampina, Antonio, Fusini, Laura, Ali, Sarah Ghulam, Gripari, Paola, Pizzamiglio, Francesca, Ribatti, Valentina, Junod, Daniele, Maltagliati, Anna, Mancini, Maria Elisabetta, Mantegazza, Valentina, Maragna, Riccardo, Marchetti, Francesca, Muratori, Manuela, Sbordone, Francesco Paolo, Tassetti, Luigi, Volpe, Alessandra, Saba, Luca, Autore, Camillo, Olivotto, Iacopo, Guaricci, Andrea Igoren, Andreini, Daniele, and Pontone, Gianluca
Published: 2024
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3. Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Author: Josephs, Katherine S., Roberts, Angharad M., Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J., Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D., Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C., Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E., Chahal, C. Anwar A., Landstrom, Andrew P., James, Cynthia, McNally, Elizabeth M., Judge, Daniel P., van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, and Ware, James S.
Published: 2023
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4. C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Author: Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, and Van Broeckhoven, Christine
Subjects: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Genetics, Brain Disorders, Aging, Aphasia, Neurodegenerative, Rare Diseases, Alzheimer's Disease Related Dementias (ADRD), Dementia, Frontotemporal Dementia (FTD), Acquired Cognitive Impairment, Neurological, Age of Onset, Aged, Aged, 80 and over, Aphasia, Primary Progressive, C9orf72 Protein, Cohort Studies, DNA Repeat Expansion, Europe, Female, Frontotemporal Dementia, Frontotemporal Lobar Degeneration, Geography, Humans, Male, Mediterranean Region, Middle Aged, Principal Component Analysis, Scandinavian and Nordic Countries, Syndrome, International FTD-Genetics Consortium, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract: ObjectiveWe sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.MethodsWe evaluated expansions frequency in the entire cohort (n = 1,396; behavioral variant frontotemporal dementia [bvFTD] [n = 800], primary progressive aphasia [PPA] [n = 495], and FTLD-motor neuron disease [MND] [n = 101]). We then focused on the bvFTD and PPA cases and tested for association between expansion status, syndromes, genetic ancestry, and AAO applying statistical tests comprising Fisher exact tests, analysis of variance with Tukey post hoc tests, and logistic and nonlinear mixed-effects model regressions.ResultsWe found C9orf72 pathogenic expansions in 4% of all cases (56/1,396). Expansion carriers differently distributed across syndromes: 12/101 FTLD-MND (11.9%), 40/800 bvFTD (5%), and 4/495 PPA (0.8%). While addressing population substructure through principal components analysis (PCA), we defined 2 patients groups with Central/Northern (n = 873) and Southern European (n = 523) ancestry. The proportion of expansion carriers was significantly higher in bvFTD compared to PPA (5% vs 0.8% [p = 2.17 × 10-5; odds ratio (OR) 6.4; confidence interval (CI) 2.31-24.99]), as well as in individuals with Central/Northern European compared to Southern European ancestry (4.4% vs 1.8% [p = 1.1 × 10-2; OR 2.5; CI 1.17-5.99]). Pathogenic expansions and Central/Northern European ancestry independently and inversely correlated with AAO. Our prediction model (based on expansions status, genetic ancestry, and AAO) predicted a diagnosis of bvFTD with 64% accuracy.ConclusionsOur results indicate correlation between pathogenic C9orf72 expansions, AAO, PCA-based Central/Northern European ancestry, and a diagnosis of bvFTD, implying complex genetic risk architectures differently underpinning the behavioral and language variant syndromes.
Published: 2020

5. Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Author: Ferrari, Raffaele, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Ramasamy, Adaikalavan, Kwok, John B.J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging-Yuek R., Mann, David M.A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Pietrini, P., Huey, Edward D., Wassermann, Eric M., Baborie, Atik, Jaros, Evelyn, Tierney, Michael C., Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C.M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F., Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, van Swieten, John C., Dopper, Elise G.P., Seelaar, Harro, Pijnenburg, Yolande A.L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B., Hardy, John, Momeni, Parastoo, Ge, Yi-Jun, Ou, Ya-Nan, Deng, Yue-Ting, Wu, Bang-Sheng, Yang, Liu, Zhang, Ya-Ru, Chen, Shi-Dong, Huang, Yu-Yuan, Dong, Qiang, Tan, Lan, and Yu, Jin-Tai
Published: 2023
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6. Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology

Author: Castelletti, Silvia, Zorzi, Alessandro, Ballardini, Enrico, Basso, Cristina, Biffi, Alessandro, Brancati, Francesco, Cavarretta, Elena, Crotti, Lia, Contursi, Maurizio, D'Aleo, Antonio, D'Ascenzi, Flavio, Delise, Pietro, Dello Russo, Antonio, Gazale, Giovanni, Mos, Lucio, Novelli, Valeria, Palamà, Zefferino, Palermi, Stefano, Palmieri, Vincenzo, Patrizi, Giampiero, Pelliccia, Antonio, Pilichou, Kalliopi, Romano, Silvio, Sarto, Patrizio, Schwartz, Peter J., Tiberi, Monica, Zeppilli, Paolo, Corrado, Domenico, and Sciarra, Luigi
Published: 2022
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7. Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy.

Author: Novelli, Valeria, Canonico, Francesco, Laborante, Renzo, Manzoni, Martina, Arcudi, Alessandra, Pompilio, Giulio, Mercuri, Eugenio, Patti, Giuseppe, and D'Amario, Domenico
Subjects: DUCHENNE muscular dystrophy, MYOCARDIUM, DILATED cardiomyopathy, GENETIC variation, PROGNOSIS
Abstract: Cardiomyopathy represents the most important life-limiting condition of Duchenne muscular dystrophy (DMD) patients after the age of 20. Genetic alterations in the DMD gene result in the absence of functional dystrophin protein, leading to skeletal/cardiac muscle impairment. The DMD incidence is one in 5000 live male births. Identifying the genetic background, in addition to DMD disease-causing variants, is one of the unmet needs in understanding the cardiac disease's pathogenetic mechanisms and its prognostic implications. The clinical scenario is made even more intricate by the difficulty in predicting the onset and progression of cardiomyopathy, as no clear genotype/phenotype correspondence has been found thus far. The evaluation of genes involved in the onset of primary cardiomyopathies could explore the hypothesis that changes in cytoskeletal and sarcomeric protein function are the modulators of ventricular dysfunction in DMD patients. In the last decade, with the advent of next-generation sequencing (NGS) technology, many disease-causing genes and modifiers have been identified. Assessing the genetic origin of the phenotypic variability of the disease in both the onset and progression of cardiomyopathy in DMD would be extremely helpful in managing these patients. This review article aims to spotlight the genetic background associated with Cardiomyopathy in DMD patients toward a more predictive personalized model of care. [ABSTRACT FROM AUTHOR]
Published: 2025
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8. Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing

Author: Novelli, Valeria, Memmi, Mirella, Malovini, Alberto, Mazzanti, Andrea, Liu, Nian, Yanfei, Ruan, Bongianino, Rossana, Denegri, Marco, Monteforte, Nicola, Bloise, Raffaella, Morini, Massimo, and Napolitano, Carlo
Published: 2022
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9. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Author: Ferrari, Raffaele, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Ramasamy, Adaikalavan, Kwok, John B.J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging-Yuek R., Mann, David M.A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Pietrini, Pietro, Huey, Edward D., Wassermann, Eric M., Baborie, Atik, Jaros, Evelyn, Tierney, Michael C., Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C.M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., van der Zee, Julie, Van Broeckhoven, Christine, Cappa, Stefano F., Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, van Swieten, John C., Dopper, Elise G.P., Seelaar, Harro, Pijnenburg, Yolande A.L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B., Hardy, John, Momeni, Parastoo, Reus, Lianne M., Pasaniuc, Bogdan, Posthuma, Danielle, Boltz, Toni, and Ophoff, Roel A.
Published: 2021
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10. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., Martinez, Elisa McGrath, Pollard, Harvey B., Sukumar, Gauthaman, Soltis, Anthony R., Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Kost, Jason, Scotter, Emma L., Kenna, Kevin P., Miller, Jack W., Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Rademakers, Rosa, van Blitterswijk, Marka, Boylan, Kevin B., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Jr., Shaw, Christopher E., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, H., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Arepalli, Sampath, Auluck, Pavan, Baloh, Robert H., Bowser, Robert, Brice, Alexis, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Corcia, Philippe, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Faghri, Faraz, Farren, Jennifer, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Goutman, Stephen A., Heiman-Patterson, Terry D., Hernandez, Dena G., Hoover, Ben, Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Sendtner, Michael, Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Den Bosch, Ludo, Zinman, Lorne, Albani, Diego, Borroni, Barbara, Padovani, Alessandro, Bruni, Amalia, Clarimon, Jordi, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Danek, Adrian, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Graff, Caroline, Chiang, Huei-Hsin, Khoshnood, Behzad, Öijerstedt, Linn, Morris, Christopher M., Nacmias, Benedetta, Sorbi, Sandro, Nielsen, Jorgen E., Hjermind, Lynne E., Novelli, Valeria, Puca, Annibale A., Pastor, Pau, Alvarez, Ignacio, Diez-Fairen, Monica, Aguilar, Miquel, Perneczky, Robert, Diehl-Schimd, Janine, Rossi, Mina, Ruiz, Agustin, Boada, Mercè, Hernández, Isabel, Moreno-Grau, Sonia, Schlachetzki, Johannes C., Aarsland, Dag, Albert, Marilyn S., Attems, Johannes, Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Besser, Lilah M., Bigio, Eileen H., Black, Sandra E., Boeve, Bradley F., Bohannan, Ryan C., Brett, Francesca, Brunetti, Maura, Caraway, Chad A., Palma, Jose-Alberto, Calvo, Andrea, Canosa, Antonio, Dickson, Dennis, Duyckaerts, Charles, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E., Floris, Gianluca, Foroud, Tatiana M., Fortea, Juan, Gan-Or, Ziv, Gentleman, Steve, Ghetti, Bernardino, Gibbs, Jesse Raphael, Goate, Alison, Goldstein, David, González-Aramburu, Isabel, Graff-Radford, Neill R., Hodges, Angela K., Hu, Heng-Chen, Hupalo, Daniel, Infante, Jon, Iranzo, Alex, Kaiser, Scott M., Kaufmann, Horacio, Keith, Julia, Kim, Ronald C., Klein, Gregory, Krüger, Rejko, Kukull, Walter, Kuzma, Amanda, Lage, Carmen, Lesage, Suzanne, Leverenz, James B., Logroscino, Giancarlo, Lopez, Grisel, Love, Seth, Mao, Qinwen, Marti, Maria Jose, Martinez-McGrath, Elisa, Masellis, Mario, Masliah, Eliezer, May, Patrick, McKeith, Ian, Mesulam, Marek-Marsel, Monuki, Edwin S., Newell, Kathy L., Norcliffe-Kaufmann, Lucy, Palmer, Laura, Perkins, Matthew, Pletnikova, Olga, Molina-Porcel, Laura, Reynolds, Regina H., Rodríguez-Rodríguez, Eloy, Rohrer, Jonathan D., Sanchez-Juan, Pascual, Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram, Sidransky, Ellen, Tayebi, Nahid, Thomas, Alan J., Tilley, Bension S., Walton, Ronald L., Woltjer, Randy, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Zecca, Chiara, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Shneider, Neil A., Fraenkel, Ernest, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Amar, Khaled, Archibald, Neil, Bandmann, Oliver, Capps, Erica, Church, Alistair, Coebergh, Jan, Costantini, Alyssa, Critchley, Peter, Ghosh, Boyd CP., Hu, Michele T.M., Kobylecki, Christopher, Leigh, P. Nigel, Mann, Carl, Massey, Luke A., Morris, Huw R., Nath, Uma, Pavese, Nicola, Paviour, Dominic, Sharma, Jagdish, Vaughan, Jenny, Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A., Stein, Thor D., Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S., Portley, Makayla K., Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, F.N.U., Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L., Johansson, Per M., Nilsson, Christer F., Rowe, James B., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D., Singleton, Andrew B., Silani, Vincenzo, Ross, Owen A., Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M., Pickering-Brown, Stuart, Brady, Christopher B., Kowal, Neil, Hardy, John A., Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matthew B., Ferrari, Raffaele, Landers, John E., Gibbs, J. Raphael, Dalgard, Clifton L., Scholz, Sonja W., and Traynor, Bryan J.
Published: 2021
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11. Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy

Author: Bottillo, Irene, Ciccone, Maria Pia, Magliozzi, Monia, Pilichou, Kalliopi, Girotto, Giorgia, Girolami, Francesca, Cecconi, Massimiliano, D'Argenio, Valeria, Novelli, Valeria, Coiana, Alessandra, Formicola, Daniela, Micaglio, Emanuele, Tortora, Giada, Gualandi, Francesca, Petrucci, Simona, Castori, Marco, Resta, Nicoletta, Vestri, Anna Rita, Iascone, Maria, and Grammatico, Paola
Published: 2025
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12. Role of extensive diagnostic workup in young athletes and nonathletes with complex ventricular arrhythmias

Author: Narducci, Maria Lucia, Pelargonio, Gemma, La Rosa, Giulio, Inzani, Frediano, d’Amati, Giulia, Novelli, Valeria, Marano, Riccardo, Perna, Francesco, Bencardino, Gianluigi, Pinnacchio, Gaetano, Genuardi, Maurizio, Cammarano, Michela, Palmieri, Vincenzo, Zeppilli, Paolo, and Crea, Filippo
Published: 2020
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13. C9orf72, AAO and ancestry help discriminating behavioural from language variants in FTLD cohorts

Author: Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, Van Broeckhoven, Christine, van Rooij, Jeroen, Van Swieten, John C, Veronesi, Arianna, Vitale, Emilia, Waldö, Maria L, Woodward, Cathy, Yokoyama, Jennifer, Escott-Price, Valentina, Polke, James M, and Ferrari, Raffaele
Published: 2020
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14. Enhancing the Interpretation of Genetic Observations in KCNQ1 in Unselected Populations: Relevance to Secondary Findings

Author: Novelli, Valeria, primary, Faultless, Trent, additional, Cerrone, Marina, additional, Care, Melanie, additional, Manzoni, Martina, additional, Bober, Sara L, additional, Adler, Arnon, additional, De-Giorgio, Fabio, additional, Spears, Danna, additional, and Gollob, Michael H, additional
Published: 2023
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15. Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

Author: Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, and Genuardi, Maurizio
Published: 2020
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16. An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Author: Adler, Arnon, Novelli, Valeria, Amin, Ahmad S., Abiusi, Emanuela, Care, Melanie, Nannenberg, Eline A., Feilotter, Harriet, Amenta, Simona, Mazza, Daniela, Bikker, Hennie, Sturm, Amy C., Garcia, John, Ackerman, Michael J., Hershberger, Raymond E., Perez, Marco V., Zareba, Wojciech, Ware, James S., Wilde, Arthur A.M., and Gollob, Michael H.
Published: 2020
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17. Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Author: Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A. M., and Gollob, Michael H.
Published: 2018
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18. Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Author: UMC Utrecht, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S, UMC Utrecht, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, and Ware, James S
Published: 2023

19. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Author: Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Genetica, Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, Ware, James S, Genetica Groep Van Tintelen, Cancer, Child Health, Circulatory Health, Genetica, Josephs, Katherine S, Roberts, Angharad M, Theotokis, Pantazis, Walsh, Roddy, Ostrowski, Philip J, Edwards, Matthew, Fleming, Andrew, Thaxton, Courtney, Roberts, Jason D, Care, Melanie, Zareba, Wojciech, Adler, Arnon, Sturm, Amy C, Tadros, Rafik, Novelli, Valeria, Owens, Emma, Bronicki, Lucas, Jarinova, Olga, Callewaert, Bert, Peters, Stacey, Lumbers, Tom, Jordan, Elizabeth, Asatryan, Babken, Krishnan, Neesha, Hershberger, Ray E, Chahal, C Anwar A, Landstrom, Andrew P, James, Cynthia, McNally, Elizabeth M, Judge, Daniel P, van Tintelen, Peter, Wilde, Arthur, Gollob, Michael, Ingles, Jodie, and Ware, James S
Published: 2023

20. Five Level Triage vs. Four Level Triage in a Quaternary Emergency Department: National Analysis on Waiting Time, Validity, and Crowding—The CREONTE (Crowding and RE-Organization National TriagE) Study Group

Author: Savioli, G., Ceresa, I. F., Bressan, M. A., Piccini, G. B., Varesi, Pietro Antonio, Novelli, Valeria, Muzzi, Antonella, Cutti, S., Ricevuti, G., Esposito, Carlo, Voza, A., Desai, A., Longhitano, Y., Saviano, Angela, Piccioni, Andrea, Piccolella, F., Bellou, A., Zanza, C., Oddone, E., Varesi A. (ORCID:0000-0002-9189-2352), Novelli V., Muzzi A., Esposito C., Saviano A. (ORCID:0000-0002-2820-7180), Piccioni A., Savioli, G., Ceresa, I. F., Bressan, M. A., Piccini, G. B., Varesi, Pietro Antonio, Novelli, Valeria, Muzzi, Antonella, Cutti, S., Ricevuti, G., Esposito, Carlo, Voza, A., Desai, A., Longhitano, Y., Saviano, Angela, Piccioni, Andrea, Piccolella, F., Bellou, A., Zanza, C., Oddone, E., Varesi A. (ORCID:0000-0002-9189-2352), Novelli V., Muzzi A., Esposito C., Saviano A. (ORCID:0000-0002-2820-7180), and Piccioni A.
Abstract: Background and Objectives: Triage systems help provide the right care at the right time for patients presenting to emergency departments (EDs). Triage systems are generally used to subdivide patients into three to five categories according to the system used, and their performance must be carefully monitored to ensure the best care for patients. Materials and Methods: We examined ED accesses in the context of 4-level (4LT) and 5-level triage systems (5LT), implemented from 1 January 2014 to 31 December 2020. This study assessed the effects of a 5LT on wait times and under-triage (UT) and over-triage (OT). We also examined how 5LT and 4LT systems reflected actual patient acuity by correlating triage codes with severity codes at discharge. Other outcomes included the impact of crowding indices and 5LT system function during the COVID-19 pandemic in the study populations. Results: We evaluated 423,257 ED presentations. Visits to the ED by more fragile and seriously ill individuals increased, with a progressive increase in crowding. The length of stay (LOS), exit block, boarding, and processing times increased, reflecting a net raise in throughput and output factors, with a consequent lengthening of wait times. The decreased UT trend was observed after implementing the 5LT system. Conversely, a slight rise in OT was reported, although this did not affect the medium-high-intensity care area. Conclusions: Introducing a 5LT improved ED performance and patient care.
Published: 2023

21. Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood

Author: Ge, Yi-Jun, primary, Ou, Ya-Nan, additional, Deng, Yue-Ting, additional, Wu, Bang-Sheng, additional, Yang, Liu, additional, Zhang, Ya-Ru, additional, Chen, Shi-Dong, additional, Huang, Yu-Yuan, additional, Dong, Qiang, additional, Tan, Lan, additional, Yu, Jin-Tai, additional, Ferrari, Raffaele, additional, Hernandez, Dena G., additional, Nalls, Michael A., additional, Rohrer, Jonathan D., additional, Ramasamy, Adaikalavan, additional, Kwok, John B.J., additional, Dobson-Stone, Carol, additional, Brooks, William S., additional, Schofield, Peter R., additional, Halliday, Glenda M., additional, Hodges, John R., additional, Piguet, Olivier, additional, Bartley, Lauren, additional, Thompson, Elizabeth, additional, Haan, Eric, additional, Hernández, Isabel, additional, Ruiz, Agustín, additional, Boada, Mercè, additional, Borroni, Barbara, additional, Padovani, Alessandro, additional, Cruchaga, Carlos, additional, Cairns, Nigel J., additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Forloni, Gianluigi, additional, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Serpente, Maria, additional, Scarpini, Elio, additional, Clarimón, Jordi, additional, Lleó, Alberto, additional, Blesa, Rafael, additional, Waldö, Maria Landqvist, additional, Nilsson, Karin, additional, Nilsson, Christer, additional, Mackenzie, Ian R.A., additional, Hsiung, Ging-Yuek R., additional, Mann, David M.A., additional, Grafman, Jordan, additional, Morris, Christopher M., additional, Attems, Johannes, additional, Griffiths, Timothy D., additional, McKeith, Ian G., additional, Thomas, Alan J., additional, Pietrini, P., additional, Huey, Edward D., additional, Wassermann, Eric M., additional, Baborie, Atik, additional, Jaros, Evelyn, additional, Tierney, Michael C., additional, Pastor, Pau, additional, Razquin, Cristina, additional, Ortega-Cubero, Sara, additional, Alonso, Elena, additional, Perneczky, Robert, additional, Diehl-Schmid, Janine, additional, Alexopoulos, Panagiotis, additional, Kurz, Alexander, additional, Rainero, Innocenzo, additional, Rubino, Elisa, additional, Pinessi, Lorenzo, additional, Rogaeva, Ekaterina, additional, St. George-Hyslop, Peter, additional, Rossi, Giacomina, additional, Tagliavini, Fabrizio, additional, Giaccone, Giorgio, additional, Rowe, James B., additional, Schlachetzki, Johannes C.M., additional, Uphill, James, additional, Collinge, John, additional, Mead, Simon, additional, Danek, Adrian, additional, Van Deerlin, Vivianna M., additional, Grossman, Murray, additional, Trojanowski, John Q., additional, van der Zee, Julie, additional, Deschamps, William, additional, Van Langenhove, Tim, additional, Cruts, Marc, additional, Van Broeckhoven, Christine, additional, Cappa, Stefano F., additional, Le Ber, Isabelle, additional, Hannequin, Didier, additional, Golfier, Véronique, additional, Vercelletto, Martine, additional, Brice, Alexis, additional, Nacmias, Benedetta, additional, Sorbi, Sandro, additional, Bagnoli, Silvia, additional, Piaceri, Irene, additional, Nielsen, Jørgen E., additional, Hjermind, Lena E., additional, Riemenschneider, Matthias, additional, Mayhaus, Manuel, additional, Ibach, Bernd, additional, Gasparoni, Gilles, additional, Pichler, Sabrina, additional, Gu, Wei, additional, Rossor, Martin N., additional, Fox, Nick C., additional, Warren, Jason D., additional, Spillantini, Maria Grazia, additional, Morris, Huw R., additional, Rizzu, Patrizia, additional, Heutink, Peter, additional, Snowden, Julie S., additional, Rollinson, Sara, additional, Richardson, Anna, additional, Gerhard, Alexander, additional, Bruni, Amalia C., additional, Maletta, Raffaele, additional, Frangipane, Francesca, additional, Cupidi, Chiara, additional, Bernardi, Livia, additional, Anfossi, Maria, additional, Gallo, Maura, additional, Conidi, Maria Elena, additional, Smirne, Nicoletta, additional, Rademakers, Rosa, additional, Baker, Matt, additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Knopman, David, additional, Josephs, Keith A., additional, Boeve, Bradley F., additional, Parisi, Joseph E., additional, Seeley, William W., additional, Miller, Bruce L., additional, Karydas, Anna M., additional, Rosen, Howard, additional, van Swieten, John C., additional, Dopper, Elise G.P., additional, Seelaar, Harro, additional, Pijnenburg, Yolande A.L., additional, Scheltens, Philip, additional, Logroscino, Giancarlo, additional, Capozzo, Rosa, additional, Novelli, Valeria, additional, Puca, Annibale A., additional, Franceschi, Massimo, additional, Postiglione, Alfredo, additional, Milan, Graziella, additional, Sorrentino, Paolo, additional, Kristiansen, Mark, additional, Chiang, Huei-Hsin, additional, Graff, Caroline, additional, Pasquier, Florence, additional, Rollin, Adeline, additional, Deramecourt, Vincent, additional, Lebert, Florence, additional, Kapogiannis, Dimitrios, additional, Ferrucci, Luigi, additional, Pickering-Brown, Stuart, additional, Singleton, Andrew B., additional, Hardy, John, additional, and Momeni, Parastoo, additional
Published: 2023
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22. Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Author: Josephs, Katherine S, primary, Roberts, Angharad M, additional, Theotokis, Pantazis, additional, Walsh, Roddy, additional, Ostrowski, Philip J, additional, Edwards, Matthew, additional, Fleming, Andrew, additional, Thaxton, Courtney, additional, Roberts, Jason D, additional, Care, Melanie, additional, Zareba, Wojciech, additional, Adler, Arnon, additional, Sturm, Amy C, additional, Tadros, Rafik, additional, Novelli, Valeria, additional, Owens, Emma, additional, Bronicki, Lucas, additional, Jarinova, Olga, additional, Callewaert, Bert, additional, Peters, Stacey, additional, Lumbers, Tom, additional, Jordan, Elizabeth, additional, Asatryan, Babken, additional, Krishnan, Neesha, additional, Hershberger, Ray E, additional, Chahal, C. Anwar A., additional, Landstrom, Andrew P., additional, James, Cynthia, additional, McNally, Elizabeth M, additional, Judge, Daniel P, additional, van Tintelen, Peter, additional, Wilde, Arthur, additional, Gollob, Michael, additional, Ingles, Jodie, additional, and Ware, James S, additional
Published: 2023
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23. Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact

Author: Napolitano, Carlo, Novelli, Valeria, Francis, Matthew D, and Priori, Silvia G
Published: 2015
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24. Corrigendum to “Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology” [International Journal of Cardiology Volume 364, 1 October 2022, Pages 169–177].

Author: Castelletti, Silvia, primary, Zorzi, Alessandro, additional, Ballardini, Enrico, additional, Basso, Cristina, additional, Biffi, Alessandro, additional, Brancati, Francesco, additional, Cavarretta, Elena, additional, Crotti, Lia, additional, Contursi, Maurizio, additional, D'Aleo, Antonio, additional, D'Ascenzi, Flavio, additional, Delise, Pietro, additional, Dello Russo, Antonio, additional, Gazale, Giovanni, additional, Mos, Lucio, additional, Novelli, Valeria, additional, Palamà, Zefferino, additional, Palermi, Stefano, additional, Palmieri, Vincenzo, additional, Patrizi, Giampiero, additional, Pelliccia, Antonio, additional, Pilichou, Kalliopi, additional, Romano, Silvio, additional, Sarto, Patrizio, additional, Schwartz, Peter J., additional, Tiberi, Monica, additional, Zeppilli, Paolo, additional, Corrado, Domenico, additional, and Sciarra, Luigi, additional
Published: 2023
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25. Frontotemporal dementia and its subtypes: a genome-wide association study

Author: Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John B J, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Mann, David M A, Grafman, Jordan, Morris, Christopher M, Attems, Johannes, Griffiths, Timothy D, McKeith, Ian G, Thomas, Alan J, Pietrini, P, Huey, Edward D, Wassermann, Eric M, Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B, Schlachetzki, Johannes C M, Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M, Grossman, Murray, Trojanowski, John Q, van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Spillantini, Maria Grazia, Morris, Huw R, Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David, Josephs, Keith A, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise G P, Seelaar, Harro, Pijnenburg, Yolande A L, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, Hardy, John, and Momeni, Parastoo
Published: 2014
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26. Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Author: Hosseini, S. Mohsen, Kim, Raymond, Udupa, Sharmila, Costain, Gregory, Jobling, Rebekah, Liston, Eriskay, Jamal, Seema M., Szybowska, Marta, Morel, Chantal F., Bowdin, Sarah, Garcia, John, Care, Melanie, Sturm, Amy C., Novelli, Valeria, Ackerman, Michael J., Ware, James S., Hershberger, Ray E., Wilde, Arthur A.M., and Gollob, Michael H.
Published: 2018
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27. 223 THE ROLE OF SARS-COV-2 VACCINATION-INDUCED MYOCARDITIS IN UNMASKING UNDERLYING ARRHYTHMOGENIC CARDIOMYOPATHIES: A CASE SERIES LOOKING BEYOND THE TIP OF THE ICEBERG

Author: Brusamolino, Matteo, primary, Amelotti, Nicola, additional, Mapelli, Massimo, additional, Baggiano, Andrea, additional, Campodonico, Jeness, additional, Majocchi, Benedetta, additional, Ribatti, Valentina, additional, Vettor, Giulia, additional, Teruzzi, Giovanni, additional, Trabattoni, Daniela, additional, Novelli, Valeria, additional, Catto, Valentina, additional, Basso, Cristina, additional, Pontone, Gianluca, additional, and Agostoni, Piergiuseppe, additional
Published: 2022
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28. 337 RECLASSIFICATION OF GENETIC VARIANTS WITH PREVIOUSLY UNRECOGNIZED PATHOGENIC ROLE IN PATIENTS WITH INHERITED CARDIAC CONDITIONS

Author: Manzoni, Martina, primary, Sommariva, Elena, additional, Colombo, Gualtiero, additional, Biondi, Maria Luisa, additional, Mushtaq, Saima, additional, Farina, Stefania, additional, Roberto, Maurizio, additional, Pizzamiglio, Francesca, additional, Casella, Michela, additional, Pompilio, Giulio, additional, and Novelli, Valeria, additional
Published: 2022
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29. Editorial: The role of genetics and non-coding RNAs in atrial fibrillation

Author: Novelli, Valeria, primary and Akar, Fadi G., additional
Published: 2022
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30. Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

Author: Lippi, Melania, primary, Chiesa, Mattia, additional, Ascione, Ciro, additional, Pedrazzini, Matteo, additional, Mushtaq, Saima, additional, Rovina, Davide, additional, Riggio, Daniela, additional, Di Blasio, Anna Maria, additional, Biondi, Maria Luisa, additional, Pompilio, Giulio, additional, Colombo, Gualtiero I., additional, Casella, Michela, additional, Novelli, Valeria, additional, and Sommariva, Elena, additional
Published: 2022
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31. Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients

Author: Lippi, M, Chiesa, M, Ascione, C, Pedrazzini, M, Mushtaq, S, Rovina, D, Riggio, D, Di Blasio, A, Biondi, M, Pompilio, G, Colombo, G, Casella, M, Novelli, V, Sommariva, E, Lippi, Melania, Chiesa, Mattia, Ascione, Ciro, Pedrazzini, Matteo, Mushtaq, Saima, Rovina, Davide, Riggio, Daniela, Di Blasio, Anna Maria, Biondi, Maria Luisa, Pompilio, Giulio, Colombo, Gualtiero I, Casella, Michela, Novelli, Valeria, Sommariva, Elena, Lippi, M, Chiesa, M, Ascione, C, Pedrazzini, M, Mushtaq, S, Rovina, D, Riggio, D, Di Blasio, A, Biondi, M, Pompilio, G, Colombo, G, Casella, M, Novelli, V, Sommariva, E, Lippi, Melania, Chiesa, Mattia, Ascione, Ciro, Pedrazzini, Matteo, Mushtaq, Saima, Rovina, Davide, Riggio, Daniela, Di Blasio, Anna Maria, Biondi, Maria Luisa, Pompilio, Giulio, Colombo, Gualtiero I, Casella, Michela, Novelli, Valeria, and Sommariva, Elena
Abstract: Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50–70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the American College of Medical Genetics and Genomics both for ACM-associated genes and for genes linked to other cardiovascular genetic conditions; (ii) to assess, for the first time, the impact of common variants on the ACM clinical disease severity by genotype-phenotype correlation and survival analysis. We identified 15 (likely) pathogenic variants and 66 variants of uncertain significance in ACM-genes and 4 high-impact variants in genes never associated with ACM (ABCC9, APOB, DPP6, MIB1), which deserve future consideration. In addition, we found 69 significant genotype-phenotype associations between common variants and clinical parameters. Arrhythmia-associated polymorphisms resulted in an increased risk of arrhythmic events during patients’ follow-up. The description of the genetic framework of our population and the observed genotype-phenotype correlation constitutes the starting point to address the current lack of knowledge in the genetics of ACM.
Published: 2022

32. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

Author: Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H, Abiusi, Emanuela (ORCID:0000-0001-9028-012X), Walsh, Roddy, Adler, Arnon, Amin, Ahmad S, Abiusi, Emanuela, Care, Melanie, Bikker, Hennie, Amenta, Simona, Feilotter, Harriet, Nannenberg, Eline A, Mazzarotto, Francesco, Trevisan, Valentina, Garcia, John, Hershberger, Ray E, Perez, Marco V, Sturm, Amy C, Ware, James S, Zareba, Wojciech, Novelli, Valeria, Wilde, Arthur A M, Gollob, Michael H, and Abiusi, Emanuela (ORCID:0000-0001-9028-012X)
Abstract: Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death. Numerous genes have been reported to cause these conditions, but evidence supporting these gene-disease relationships varies considerably. To ensure appropriate utilization of genetic information for CPVT and SQTS patients, we applied an evidence-based reappraisal of previously reported genes. Methods and results Three teams independently curated all published evidence for 11 CPVT and 9 SQTS implicated genes using the ClinGen gene curation framework. The results were reviewed by a Channelopathy Expert Panel who provided the final classifications. Seven genes had definitive to moderate evidence for disease causation in CPVT, with either autosomal dominant (RYR2, CALM1, CALM2, CALM3) or autosomal recessive (CASQ2, TRDN, TECRL) inheritance. Three of the four disputed genes for CPVT (KCNJ2, PKP2, SCN5A) were deemed by the Expert Panel to be reported for phenotypes that were not representative of CPVT, while reported variants in a fourth gene (ANK2) were too common in the population to be disease-causing. For SQTS, only one gene (KCNH2) was classified as definitive, with three others (KCNQ1, KCNJ2, SLC4A3) having strong to moderate evidence. The majority of genetic evidence for SQTS genes was derived from very few variants (five in KCNJ2, two in KCNH2, one in KCNQ1/SLC4A3). Conclusions Seven CPVT and four SQTS genes have valid evidence for disease causation and should be included in genetic testing panels. Additional genes associated with conditions that may mimic clinical features of CPVT/SQTS have potential utility for differential diagnosis.
Published: 2022

33. Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning: Dementia Praecox Revisited

Author: Koutsouleris, Nikolaos, Pantelis, Christos, Kambeitz, Joseph, Toivonen, Anna, Turtonen, Otto, Botterweck, Sonja, Kluthausen, Norman, Antoch, Gerald, Caspers, Julian, Wittsack, Hans-Jörg, Blasi, Giuseppe, Pergola, Giulio, Caforio, Grazia, Salokangas, Raimo K R, Fazio, Leonardo, Quarto, Tiziana, Gelao, Barbara, Romano, Raffaella, Andriola, Ileana, Falsetti, Andrea, Barone, Marina, Passiatore, Roberta, Sangiuliano, Marina, Surmann, Marian, Hietala, Jarmo, Bienek, Olga, Dannlowski, Udo, Solana, Ana Beatriz, Abraham, Manuela, Schirmer, Timo, Ferro, Adele, Re, Marta, Sberna, Maurizio, D'Agostino, Armando, Del Fabro, Lorenzo, Bertolino, Alessandro, Perna, Giampaolo, Nobile, Maria, Balestrieri, Matteo, Bonivento, Carolina, Cabras, Giuseppe, Fabbro, Franco, Delvecchio, Giuseppe, Maggioni, Eleonora, Squarcina, Letizia, Gritti, Davide, Brambilla, Paolo, Rossetti, Maria Gloria, Ferrari, Raffaele, Hernandez, Dena Michelle Godwin, Nalls, Michael, Rohrer, Jonathan, Ramasamy, Adaikalavan, Kwok, John, Dobson-Stone, Carol, Brooks, William, Schofield, Peter, Upthegrove, Rachel, Halliday, Glenda, Hodges, John, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Wood, Stephen J, Cruchaga, Carlos, Cairns, Nigel, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Albani, Diego, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Lencer, Rebekka, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Landqvist Waldö, Maria, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging-Yuek, Mann, David, Borgwardt, Stefan, Grafman, Jordan, Morris, Christopher, Attems, Johannes, McKeith, Ian, Thomas, Alan, Pietrini, Pietro, Huey, Edward, Wassermann, Eric, Baborie, Atik, Jaros, Evelyn, Maj, Carlo, Tierney, Michael, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Velakoulis, Dennis, Nöthen, Markus M., Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James, Schlachetzki, Johannes, Uphill, James, Collinge, John, Degenhardt, Franziska, Mead, Simon, Van Deerlin, Vivianna, Marschhauser, Anke, Regenbrecht, Frank, Thoene-Otto, Angelika, Gordulla, Jannis, Ballarini, Tommaso, Engel, Annerose, Pino, Daniele, Leuthold, Dominique, Polyakova, Maryna, Naumann, Heike, Grossman, Murray, Trojanowski, John Q, van der Zee, Julie, Van Broeckhofen, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Mueller, Karsten, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Villringer, Arno, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Spillantini, Maria Grazia, Morris, Huw R, Rizzu, Patrizia, Heutink, Peter, Danek, Adrian, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Fassbender, Klaus, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David S, Josephs, Keith A, Fliessbach, Klaus, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise Gp, Seelaar, Harro, Pijnenburg, Yolande Al, Jahn, Holger, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Kornhuber, Johannes, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebouvier, Thibaud, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, McGuire, Philip, Landwehrmeyer, Bernhard, Hardy, John, Momeni, Parastoo, Barthel, Henryk, Elisa, Semler, Jolina, Lombardi, Christine, von Arnim, Felix, Oberahauser, Kai, Schumacher, Jan, Lehmbeck, Juan-Manuel, Maler, Anderl-Straub, Sarah, Tanja, Richter-Schmidinger, Anke, Hammer-Kaspereit, Timo, Oberstein, Felix, Müller-Sarnowski, Carola, Roßmeier, Albert, Ludolph, Jan, Kassubek, Anja, Schneider, Johannes, Levin, Prudlo, Johannes, Synofzik, Matthis, Wiltfang, Jens, Riedl, Lina, Diehl-Schmid, Janine, Otto, Markus, Meisenzahl, Eva, Falkai, Peter, Dwyer, Dominic B, Schroeter, Matthias L, Consortium, the PRONIA, Haas, Shalaila, Hasan, Alkomiet, Hoff, Claudius, Khanyaree, Ifrah, Melo, Aylin, Muckenhuber-Sternbauer, Susanna, Köhler, Yanis, Urquijo-Castro, Maria-Fernanda, Öztürk, Ömer, Penzel, Nora, Rangnick, Adrian, von Saldern, Sebastian, Spangemacher, Moritz, Tupac, Ana, Weiske, Johanna, Wosgien, Antonia, Krämer, Camilla, Blume, Karsten, Paul, Riya, Hedderich, Dennis, Julkowski, Dominika, Kaiser, Nathalie, Lichtenstein, Thorsten, Milz, Ruth, Nikolaides, Alexandra, Pilgram, Tanja, Seves, Mauro, Wassen, Martina, Andreou, Christina, Dong, Sen, Egloff, Laura, Harrisberger, Fabienne, Heitz, Ulrike, Lenz, Claudia, Leanza, Letizia, Mackintosh, Amatya, Smieskova, Renata, Studerus, Erich, Walter, Anna, Widmayer, Sonja, Popovic, David, Day, Chris, Lowri Griffiths, Sian, Iqbal, Mariam, Pelton, Mirabel, Mallikarjun, Pavan, Stainton, Alexandra, Lin, Ashleigh, Lalousis, Paris, Denissoff, Alexander, Ellilä, Anu, Oeztuerk, Oemer, From, Tiina, Heinimaa, Markus, Ilonen, Tuula, Jalo, Päivi, Laurikainen, Heikki, Luutonen, Antti, Mäkela, Akseli, Paju, Janina, Pesonen, Henri, Säilä, Reetta-Liina, International FTD-Genetics Consortium (IFGC), German Frontotemporal Lobar Degeneration (FTLD) Consortium, PRONIA Consortium, and International FTD-Genetics Consortium Consortium
Subjects: Adult, Male, Medizin, genetics [Alzheimer Disease], genetics [Psychotic Disorders], Neuropsychological Tests, diagnostic imaging [Frontotemporal Dementia], diagnostic imaging [Psychotic Disorders], Machine Learning, methods [Magnetic Resonance Imaging], Brain, Female, Humans, Magnetic Resonance Imaging, Alzheimer Disease, Frontotemporal Dementia, Psychotic Disorders, Schizophrenia, pathology [Brain], genetics [Schizophrenia], ddc:610, diagnostic imaging [Brain], genetics [Frontotemporal Dementia], Settore MED/25 - Psichiatria, Psychiatry and Mental health, diagnostic imaging [Schizophrenia], diagnostic imaging [Alzheimer Disease]
Abstract: Weitere Nicht-UDE Autoren sind nicht genannt. Importance: The behavioral and cognitive symptoms of severe psychotic disorders overlap with those seen in dementia. However, shared brain alterations remain disputed, and their relevance for patients in at-risk disease stages has not been explored so far. Objective: To use machine learning to compare the expression of structural magnetic resonance imaging (MRI) patterns of behavioral-variant frontotemporal dementia (bvFTD), Alzheimer disease (AD), and schizophrenia; estimate predictability in patients with bvFTD and schizophrenia based on sociodemographic, clinical, and biological data; and examine prognostic value, genetic underpinnings, and progression in patients with clinical high-risk (CHR) states for psychosis or recent-onset depression (ROD). Design, Setting, and Participants: This study included 1870 individuals from 5 cohorts, including (1) patients with bvFTD (n = 108), established AD (n = 44), mild cognitive impairment or early-stage AD (n = 96), schizophrenia (n = 157), or major depression (n = 102) to derive and compare diagnostic patterns and (2) patients with CHR (n = 160) or ROD (n = 161) to test patterns' prognostic relevance and progression. Healthy individuals (n = 1042) were used for age-related and cohort-related data calibration. Data were collected from January 1996 to July 2019 and analyzed between April 2020 and April 2022. Main Outcomes and Measures: Case assignments based on diagnostic patterns; sociodemographic, clinical, and biological data; 2-year functional outcomes and genetic separability of patients with CHR and ROD with high vs low pattern expression; and pattern progression from baseline to follow-up MRI scans in patients with nonrecovery vs preserved recovery. Results: Of 1870 included patients, 902 (48.2%) were female, and the mean (SD) age was 38.0 (19.3) years. The bvFTD pattern comprising prefrontal, insular, and limbic volume reductions was more expressed in patients with schizophrenia (65 of 157 [41.2%]) and major depression (22 of 102 [21.6%]) than the temporo-limbic AD patterns (28 of 157 [17.8%] and 3 of 102 [2.9%], respectively). bvFTD expression was predicted by high body mass index, psychomotor slowing, affective disinhibition, and paranoid ideation (R2= 0.11). The schizophrenia pattern was expressed in 92 of 108 patients (85.5%) with bvFTD and was linked to the C9orf72 variant, oligoclonal banding in the cerebrospinal fluid, cognitive impairment, and younger age (R2= 0.29). bvFTD and schizophrenia pattern expressions forecasted 2-year psychosocial impairments in patients with CHR and were predicted by polygenic risk scores for frontotemporal dementia, AD, and schizophrenia. Findings were not associated with AD or accelerated brain aging. Finally, 1-year bvFTD/schizophrenia pattern progression distinguished patients with nonrecovery from those with preserved recovery. Conclusions and Relevance: Neurobiological links may exist between bvFTD and psychosis focusing on prefrontal and salience system alterations. Further transdiagnostic investigations are needed to identify shared pathophysiological processes underlying the neuroanatomical interface between the 2 disease spectra.
Published: 2022
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34. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

Author: Swarup, Vivek, Hinz, Flora I., Rexach, Jessica E., Noguchi, Ken-ichi, Toyoshiba, Hiroyoshi, Oda, Akira, Hirai, Keisuke, Sarkar, Arjun, Seyfried, Nicholas T., Cheng, Chialin, Haggarty, Stephen J., Ferrari, Raffaele, Rohrer, Jonathan D., Ramasamy, Adaikalavan, Hardy, John, Hernandez, Dena G., Nalls, Michael A., Singleton, Andrew B., Kwok, John B. J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cairns, Nigel J., Cruchaga, Carlos, Binetti, Giuliano, Ghidoni, Roberta, Benussi, Luisa, Forloni, Gianluigi, Albani, Diego, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Jaros, Evelyn, Pietrini, Pietro, Huey, Edward D., Wassermann, Eric M., Tierney, Michael C., Baborie, Atik, Pastor, Pau, Ortega-Cubero, Sara, Razquin, Cristina, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter St., Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C. M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., Pickering-Brown, Stuart, Momeni, Parastoo, van der Zee, Julie, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F., Leber, Isabelle, Brice, Alexis, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Gasparoni, Gilles, Pichler, Sabrina, Ibach, Bernd, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Gerhard, Alexander, Richardson, Anna, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, Seeley, William W., van Swieten, John C., Dopper, Elise G. P., Seelaar, Harro, Pijnenburg, Yolande A. L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebouvier, Thibaud, Ferrucci, Luigi, Kapogiannis, Dimitrios, Lah, James J., Levey, Allan I., Kondou, Shinichi, Geschwind, Daniel H., Int Frontotemporal Dementia Gen, Swarup, Vivek, Hinz, Flora I., Rexach, Jessica E., Noguchi, Ken-ichi, Toyoshiba, Hiroyoshi, Oda, Akira, Hirai, Keisuke, Sarkar, Arjun, Seyfried, Nicholas T., Cheng, Chialin, Haggarty, Stephen J., Ferrari, Raffaele, Rohrer, Jonathan D., Ramasamy, Adaikalavan, Hardy, John, Hernandez, Dena G., Nalls, Michael A., Singleton, Andrew B., Kwok, John B. J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cairns, Nigel J., Cruchaga, Carlo, Binetti, Giuliano, Ghidoni, Roberta, Benussi, Luisa, Forloni, Gianluigi, Albani, Diego, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R. A., Hsiung, Ging-Yuek R., Mann, David M. A., Grafman, Jordan, Morris, Christopher M., Attems, Johanne, Griffiths, Timothy D., Mckeith, Ian G., Thomas, Alan J., Jaros, Evelyn, Pietrini, Pietro, Huey, Edward D., Wassermann, Eric M., Tierney, Michael C., Baborie, Atik, Pastor, Pau, Ortega-Cubero, Sara, Razquin, Cristina, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagioti, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter St., Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C. M., Uphill, Jame, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., Pickering-Brown, Stuart, Momeni, Parastoo, van der Zee, Julie, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F., Leber, Isabelle, Brice, Alexi, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthia, Mayhaus, Manuel, Gasparoni, Gille, Pichler, Sabrina, Ibach, Bernd, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Gerhard, Alexander, Richardson, Anna, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, Seeley, William W., van Swieten, John C., Dopper, Elise G. P., Seelaar, Harro, Pijnenburg, Yolande A. L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebouvier, Thibaud, Ferrucci, Luigi, Kapogiannis, Dimitrio, Lah, James J., Levey, Allan I., Kondou, Shinichi, and Geschwind, Daniel H.
Subjects: Proteomics, Genetics and Molecular Biology (all), 0301 basic medicine, Messenger, Gene regulatory network, Inbred C57BL, Biochemistry, Transgenic, Mice, 0302 clinical medicine, Gene Regulatory Networks, Regulation of gene expression, Cell Death, Drug discovery, Neurodegeneration, Neurodegenerative Diseases, General Medicine, Chemistry, Frontotemporal Dementia, 030220 oncology & carcinogenesis, Frontotemporal dementia, Evolution, Systems biology, Genetic Vectors, Animals, Dementia, Disease Models, Animal, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Mice, Inbred C57BL, Mice, Transgenic, MicroRNAs, RNA, Messenger, Reproducibility of Results, Transcriptome, tau Proteins, Evolution, Molecular, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, microRNA, medicine, Biochemistry, Genetics and Molecular Biology (all), Animal, Molecular, medicine.disease, 030104 developmental biology, Disease Models, RNA, Human medicine
Abstract: Identifying the mechanisms through which genetic risk causes dementia is an imperative for new therapeutic development. Here, we apply a multistage, systems biology approach to elucidate the disease mechanisms in frontotemporal dementia. We identify two gene coexpression modules that are preserved in mice harboring mutations in MAPT, GRN and other dementia mutations on diverse genetic backgrounds. We bridge the species divide via integration with proteomic and transcriptomic data from the human brain to identify evolutionarily conserved, disease-relevant networks. We find that overexpression of miR-203, a hub of a putative regulatory microRNA (miRNA) module, recapitulates mRNA coexpression patterns associated with disease state and induces neuronal cell death, establishing this miRNA as a regulator of neurodegeneration. Using a database of drug-mediated gene expression changes, we identify small molecules that can normalize the disease-associated modules and validate this experimentally. Our results highlight the utility of an integrative, cross-species network approach to drug discovery.
Published: 2018
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35. Fatty acid percentage in erythrocyte membranes of atrial flutter/fibrillation patients and controls

Author: Viviani Anselmi, Chiara, Ferreri, Carla, Novelli, Valeria, Roncarati, Roberta, Bronzini, Roberta, Marchese, Giovanni, Somalvico, Francesco, Condorelli, Gianluigi, Montenero, Annibale Sandro, and Puca, Annibale Alessandro
Published: 2010
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36. Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

Author: Walsh, Roddy, primary, Adler, Arnon, additional, Amin, Ahmad S, additional, Abiusi, Emanuela, additional, Care, Melanie, additional, Bikker, Hennie, additional, Amenta, Simona, additional, Feilotter, Harriet, additional, Nannenberg, Eline A, additional, Mazzarotto, Francesco, additional, Trevisan, Valentina, additional, Garcia, John, additional, Hershberger, Ray E, additional, Perez, Marco V, additional, Sturm, Amy C, additional, Ware, James S, additional, Zareba, Wojciech, additional, Novelli, Valeria, additional, Wilde, Arthur A M, additional, and Gollob, Michael H, additional
Published: 2021
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37. Lack of replication of genetic associations with human longevity

Author: Novelli, Valeria, Viviani Anselmi, Chiara, Roncarati, Roberta, Guffanti, Guia, Malovini, Alberto, Piluso, Giulio, and Puca, Annibale Alessandro
Published: 2008
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38. A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia

Author: Ferrari, Raffaele, Grassi, Mario, Salvi, Erika, Borroni, Barbara, Palluzzi, Fernando, Pepe, Daniele, D'Avila, Francesca, Padovani, Alessandro, Archetti, Silvana, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Rossi, Giacomina, Giaccone, Giorgio, Tagliavini, Fabrizio, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Bruni, Amalia C., Maletta, Raffaele G., Bernardi, Livia, Postiglione, Alfredo, Milan, Graziella, Franceschi, Massimo, Puca, Annibale A., Novelli, Valeria, Barlassina, Cristina, Glorioso, Nicola, Manunta, Paolo, Singleton, Andrew, Cusi, Daniele, Hardy, John, and Momeni, Parastoo
Published: 2015
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39. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Author: Reus, Lianne M., Pasaniuc, Bogdan, Posthuma, Danielle, Boltz, Toni, Ferrari, Raffaele, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Ramasamy, Adaikalavan, Kwok, John B.J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging Yuek R., Mann, David M.A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Pietrini, Pietro, Huey, Edward D., Wassermann, Eric M., Baborie, Atik, Jaros, Evelyn, Tierney, Michael C., Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C.M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., van der Zee, Julie, Van Broeckhoven, Christine, Cappa, Stefano F., Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, van Swieten, John C., Dopper, Elise G.P., Seelaar, Harro, Pijnenburg, Yolande A.L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B., Hardy, John, Momeni, Parastoo, Ophoff, Roel A., Reus, Lianne M., Pasaniuc, Bogdan, Posthuma, Danielle, Boltz, Toni, Ferrari, Raffaele, Hernandez, Dena G., Nalls, Michael A., Rohrer, Jonathan D., Ramasamy, Adaikalavan, Kwok, John B.J., Dobson-Stone, Carol, Brooks, William S., Schofield, Peter R., Halliday, Glenda M., Hodges, John R., Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging Yuek R., Mann, David M.A., Grafman, Jordan, Morris, Christopher M., Attems, Johannes, Griffiths, Timothy D., McKeith, Ian G., Thomas, Alan J., Pietrini, Pietro, Huey, Edward D., Wassermann, Eric M., Baborie, Atik, Jaros, Evelyn, Tierney, Michael C., Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, St. George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B., Schlachetzki, Johannes C.M., Uphill, James, Collinge, John, Mead, Simon, Danek, Adrian, Van Deerlin, Vivianna M., Grossman, Murray, Trojanowski, John Q., van der Zee, Julie, Van Broeckhoven, Christine, Cappa, Stefano F., Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E., Hjermind, Lena E., Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N., Fox, Nick C., Warren, Jason D., Spillantini, Maria Grazia, Morris, Huw R., Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S., Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C., Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Knopman, David, Josephs, Keith A., Boeve, Bradley F., Parisi, Joseph E., Seeley, William W., Miller, Bruce L., Karydas, Anna M., Rosen, Howard, van Swieten, John C., Dopper, Elise G.P., Seelaar, Harro, Pijnenburg, Yolande A.L., Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A., Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B., Hardy, John, Momeni, Parastoo, and Ophoff, Roel A.
Abstract: Background: The etiology of frontotemporal dementia (FTD) is poorly understood. To identify genes with predicted expression levels associated with FTD, we integrated summary statistics with external reference gene expression data using a transcriptome-wide association study approach. Methods: FUSION software was used to leverage FTD summary statistics (all FTD: n = 2154 cases, n = 4308 controls; behavioral variant FTD: n = 1337 cases, n = 2754 controls; semantic dementia: n = 308 cases, n = 616 controls; progressive nonfluent aphasia: n = 269 cases, n = 538 controls; FTD with motor neuron disease: n = 200 cases, n = 400 controls) from the International FTD-Genomics Consortium with 53 expression quantitative loci tissue type panels (n = 12,205; 5 consortia). Significance was assessed using a 5% false discovery rate threshold. Results: We identified 73 significant gene–tissue associations for FTD, representing 44 unique genes in 34 tissue types. Most significant findings were derived from dorsolateral prefrontal cortex splicing data (n = 19 genes, 26%). The 17q21.31 inversion locus contained 23 significant associations, representing 6 unique genes. Other top hits included SEC22B (a gene involved in vesicle trafficking), TRGV5, and ZNF302. A single gene finding (RAB38) was observed for behavioral variant FTD. For other clinical subtypes, no significant associations were observed. Conclusions: We identified novel candidate genes (e.g., SEC22B) and previously reported risk regions (e.g., 17q21.31) for FTD. Most significant associations were observed in dorsolateral prefrontal cortex splicing data despite the modest sample size of this reference panel. This suggests that our findings are specific to FTD and are likely to be biologically relevant highlights of genes at different FTD risk loci that are contributing to the disease pathology.
Published: 2021

40. Diagnostic Workflow in Competitive Athletes with Ventricular Arrhythmias and Suspected Concealed Cardiomyopathies

Author: Narducci, Maria Lucia, Cammarano, Michela, Novelli, Valeria, Bisignani, Antonio, Pavone, Cristina, Perna, Francesco, Bencardino, Gianluigi, Pinnacchio, Gaetano, Bianco, Massimiliano, Zeppilli, Paolo, Palmieri, Vincenzo, Pelargonio, Gemma, Narducci ML, Cammarano M, Novelli V, Bisignani A, Pavone C, Perna F, Bencardino G, Pinnacchio G, Bianco M (ORCID:0000-0002-0587-5899), Zeppilli P (ORCID:0000-0002-5228-3634), Palmieri V (ORCID:0000-0002-4478-4033), Pelargonio G, Narducci, Maria Lucia, Cammarano, Michela, Novelli, Valeria, Bisignani, Antonio, Pavone, Cristina, Perna, Francesco, Bencardino, Gianluigi, Pinnacchio, Gaetano, Bianco, Massimiliano, Zeppilli, Paolo, Palmieri, Vincenzo, Pelargonio, Gemma, Narducci ML, Cammarano M, Novelli V, Bisignani A, Pavone C, Perna F, Bencardino G, Pinnacchio G, Bianco M (ORCID:0000-0002-0587-5899), Zeppilli P (ORCID:0000-0002-5228-3634), Palmieri V (ORCID:0000-0002-4478-4033), and Pelargonio G
Abstract: The diagnosis of structural heart disease in athletes with ventricular arrhythmias (VAs) and an apparently normal heart can be very challenging. Several pieces of evidence demonstrate the importance of an extensive diagnostic work-up in apparently healthy young patients for the characterization of concealed cardiomyopathies. This study shows the various diagnostic levels and tools to help identify which athletes need deeper investigation in order to unmask possible underlying heart disease.
Published: 2021

41. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

Author: Reus, Lianne M., primary, Pasaniuc, Bogdan, additional, Posthuma, Danielle, additional, Boltz, Toni, additional, Pijnenburg, Yolande A.L., additional, Ophoff, Roel A., additional, Ferrari, Raffaele, additional, Hernandez, Dena G., additional, Nalls, Michael A., additional, Rohrer, Jonathan D., additional, Ramasamy, Adaikalavan, additional, Kwok, John B.J., additional, Dobson-Stone, Carol, additional, Brooks, William S., additional, Schofield, Peter R., additional, Halliday, Glenda M., additional, Hodges, John R., additional, Piguet, Olivier, additional, Bartley, Lauren, additional, Thompson, Elizabeth, additional, Hernández, Isabel, additional, Ruiz, Agustín, additional, Boada, Mercè, additional, Borroni, Barbara, additional, Padovani, Alessandro, additional, Cruchaga, Carlos, additional, Cairns, Nigel J., additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Forloni, Gianluigi, additional, Galimberti, Daniela, additional, Fenoglio, Chiara, additional, Serpente, Maria, additional, Scarpini, Elio, additional, Clarimón, Jordi, additional, Lleó, Alberto, additional, Blesa, Rafael, additional, Waldö, Maria Landqvist, additional, Nilsson, Karin, additional, Nilsson, Christer, additional, Mackenzie, Ian R.A., additional, Hsiung, Ging-Yuek R., additional, Mann, David M.A., additional, Grafman, Jordan, additional, Morris, Christopher M., additional, Attems, Johannes, additional, Griffiths, Timothy D., additional, McKeith, Ian G., additional, Thomas, Alan J., additional, Pietrini, Pietro, additional, Huey, Edward D., additional, Wassermann, Eric M., additional, Baborie, Atik, additional, Jaros, Evelyn, additional, Tierney, Michael C., additional, Pastor, Pau, additional, Razquin, Cristina, additional, Ortega-Cubero, Sara, additional, Alonso, Elena, additional, Perneczky, Robert, additional, Diehl-Schmid, Janine, additional, Alexopoulos, Panagiotis, additional, Kurz, Alexander, additional, Rainero, Innocenzo, additional, Rubino, Elisa, additional, Pinessi, Lorenzo, additional, Rogaeva, Ekaterina, additional, St. George-Hyslop, Peter, additional, Rossi, Giacomina, additional, Tagliavini, Fabrizio, additional, Giaccone, Giorgio, additional, Rowe, James B., additional, Schlachetzki, Johannes C.M., additional, Uphill, James, additional, Collinge, John, additional, Mead, Simon, additional, Danek, Adrian, additional, Van Deerlin, Vivianna M., additional, Grossman, Murray, additional, Trojanowski, John Q., additional, van der Zee, Julie, additional, Van Broeckhoven, Christine, additional, Cappa, Stefano F., additional, Le Ber, Isabelle, additional, Hannequin, Didier, additional, Golfier, Véronique, additional, Vercelletto, Martine, additional, Brice, Alexis, additional, Nacmias, Benedetta, additional, Sorbi, Sandro, additional, Bagnoli, Silvia, additional, Piaceri, Irene, additional, Nielsen, Jørgen E., additional, Hjermind, Lena E., additional, Riemenschneider, Matthias, additional, Mayhaus, Manuel, additional, Ibach, Bernd, additional, Gasparoni, Gilles, additional, Pichler, Sabrina, additional, Gu, Wei, additional, Rossor, Martin N., additional, Fox, Nick C., additional, Warren, Jason D., additional, Spillantini, Maria Grazia, additional, Morris, Huw R., additional, Rizzu, Patrizia, additional, Heutink, Peter, additional, Snowden, Julie S., additional, Rollinson, Sara, additional, Richardson, Anna, additional, Gerhard, Alexander, additional, Bruni, Amalia C., additional, Maletta, Raffaele, additional, Frangipane, Francesca, additional, Cupidi, Chiara, additional, Bernardi, Livia, additional, Anfossi, Maria, additional, Gallo, Maura, additional, Conidi, Maria Elena, additional, Smirne, Nicoletta, additional, Rademakers, Rosa, additional, Baker, Matt, additional, Dickson, Dennis W., additional, Graff-Radford, Neill R., additional, Petersen, Ronald C., additional, Knopman, David, additional, Josephs, Keith A., additional, Boeve, Bradley F., additional, Parisi, Joseph E., additional, Seeley, William W., additional, Miller, Bruce L., additional, Karydas, Anna M., additional, Rosen, Howard, additional, van Swieten, John C., additional, Dopper, Elise G.P., additional, Seelaar, Harro, additional, Scheltens, Philip, additional, Logroscino, Giancarlo, additional, Capozzo, Rosa, additional, Novelli, Valeria, additional, Puca, Annibale A., additional, Franceschi, Massimo, additional, Postiglione, Alfredo, additional, Milan, Graziella, additional, Sorrentino, Paolo, additional, Kristiansen, Mark, additional, Chiang, Huei-Hsin, additional, Graff, Caroline, additional, Pasquier, Florence, additional, Rollin, Adeline, additional, Deramecourt, Vincent, additional, Lebert, Florence, additional, Kapogiannis, Dimitrios, additional, Ferrucci, Luigi, additional, Pickering-Brown, Stuart, additional, Singleton, Andrew B., additional, Hardy, John, additional, and Momeni, Parastoo, additional
Published: 2021
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42. Association Between a Genetic Variant Related to Glutamic Acid Metabolism and Coronary Heart Disease in Individuals With Type 2 Diabetes

Author: Qi, Lu, Qi, Qibin, Prudente, Sabrina, Mendonca, Christine, Andreozzi, Francesco, di Pietro, Natalia, Sturma, Mariella, Novelli, Valeria, Mannino, Gaia Chiara, Formoso, Gloria, Gervino, Ernest V., Hauser, Thomas H., Muehlschlegel, Jochen D., Niewczas, Monika A., Krolewski, Andrzej S., Biolo, Gianni, Pandolfi, Assunta, Rimm, Eric, Sesti, Giorgio, Trischitta, Vincenzo, Hu, Frank, and Doria, Alessandro
Published: 2013
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43. Diagnostic Workflow in Competitive Athletes with Ventricular Arrhythmias and Suspected Concealed Cardiomyopathies

Author: Narducci, Maria Lucia, primary, Cammarano, Michela, additional, Novelli, Valeria, additional, Bisignani, Antonio, additional, Pavone, Chiara, additional, Perna, Francesco, additional, Bencardino, Gianluigi, additional, Pinnacchio, Gaetano, additional, Bianco, Massimiliano, additional, Zeppilli, Paolo, additional, Palmieri, Vincenzo, additional, and Pelargonio, Gemma, additional
Published: 2021
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44. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Author: Dewan, Ramita, primary, Chia, Ruth, additional, Ding, Jinhui, additional, Hickman, Richard A., additional, Stein, Thor D., additional, Abramzon, Yevgeniya, additional, Ahmed, Sarah, additional, Sabir, Marya S., additional, Portley, Makayla K., additional, Tucci, Arianna, additional, Ibáñez, Kristina, additional, Shankaracharya, F.N.U., additional, Keagle, Pamela, additional, Rossi, Giacomina, additional, Caroppo, Paola, additional, Tagliavini, Fabrizio, additional, Waldo, Maria L., additional, Johansson, Per M., additional, Nilsson, Christer F., additional, Rowe, James B., additional, Benussi, Luisa, additional, Binetti, Giuliano, additional, Ghidoni, Roberta, additional, Jabbari, Edwin, additional, Viollet, Coralie, additional, Glass, Jonathan D., additional, Singleton, Andrew B., additional, Silani, Vincenzo, additional, Ross, Owen A., additional, Ryten, Mina, additional, Torkamani, Ali, additional, Tanaka, Toshiko, additional, Ferrucci, Luigi, additional, Resnick, Susan M., additional, Pickering-Brown, Stuart, additional, Brady, Christopher B., additional, Kowal, Neil, additional, Hardy, John A., additional, Van Deerlin, Vivianna, additional, Vonsattel, Jean Paul, additional, Harms, Matthew B., additional, Morris, Huw R., additional, Ferrari, Raffaele, additional, Landers, John E., additional, Chiò, Adriano, additional, Gibbs, J. Raphael, additional, Dalgard, Clifton L., additional, Scholz, Sonja W., additional, Traynor, Bryan J., additional, Adeleye, Adelani, additional, Alba, Camille, additional, Bacikova, Dagmar, additional, Hupalo, Daniel N., additional, Martinez, Elisa McGrath, additional, Pollard, Harvey B., additional, Sukumar, Gauthaman, additional, Soltis, Anthony R., additional, Tuck, Meila, additional, Zhang, Xijun, additional, Wilkerson, Matthew D., additional, Smith, Bradley N., additional, Ticozzi, Nicola, additional, Fallini, Claudia, additional, Gkazi, Athina Soragia, additional, Topp, Simon D., additional, Kost, Jason, additional, Scotter, Emma L., additional, Kenna, Kevin P., additional, Miller, Jack W., additional, Tiloca, Cinzia, additional, Vance, Caroline, additional, Danielson, Eric W., additional, Troakes, Claire, additional, Colombrita, Claudia, additional, Al-Sarraj, Safa, additional, Lewis, Elizabeth A., additional, King, Andrew, additional, Calini, Daniela, additional, Pensato, Viviana, additional, Castellotti, Barbara, additional, de Belleroche, Jacqueline, additional, Baas, Frank, additional, ten Asbroek, Anneloor L.M.A., additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, McLaughlin, Russell L., additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Esteban-Pérez, Jesús, additional, Muñoz-Blanco, José Luis, additional, Stevic, Zorica, additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, Comi, Giacomo P., additional, Del Bo, Roberto, additional, Ceroni, Mauro, additional, Gagliardi, Stella, additional, Querin, Giorgia, additional, Bertolin, Cinzia, additional, van Rheenen, Wouter, additional, Diekstra, Frank P., additional, Rademakers, Rosa, additional, van Blitterswijk, Marka, additional, Boylan, Kevin B., additional, Lauria, Giuseppe, additional, Duga, Stefano, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Corrado, Lucia, additional, Sorarù, Gianni, additional, Williams, Kelly L., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Leblond-Manry, Claire, additional, Rouleau, Guy A., additional, Hardiman, Orla, additional, Morrison, Karen E., additional, Veldink, Jan H., additional, van den Berg, Leonard H., additional, Al-Chalabi, Ammar, additional, Pall, Hardev, additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Taroni, Franco, additional, García-Redondo, Alberto, additional, Wu, Zheyang, additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Brown, Robert H., additional, Shaw, Christopher E., additional, Ambrose, John C., additional, Arumugam, Prabhu, additional, Baple, Emma L., additional, Bleda, Marta, additional, Boardman-Pretty, Freya, additional, Boissiere, Jeanne M., additional, Boustred, Christopher R., additional, Brittain, H., additional, Caulfield, Mark J., additional, Chan, Georgia C., additional, Craig, Clare E.H., additional, Daugherty, Louise C., additional, de Burca, Anna, additional, Devereau, Andrew, additional, Elgar, Greg, additional, Foulger, Rebecca E., additional, Fowler, Tom, additional, Furió-Tarí, Pedro, additional, Hackett, Joanne M., additional, Halai, Dina, additional, Hamblin, Angela, additional, Henderson, Shirley, additional, Holman, James E., additional, Hubbard, Tim J.P., additional, Jackson, Rob, additional, Jones, Louise J., additional, Kasperaviciute, Dalia, additional, Kayikci, Melis, additional, Lahnstein, Lea, additional, Lawson, Kay, additional, Leigh, Sarah E.A., additional, Leong, Ivonne U.S., additional, Lopez, Javier F., additional, Maleady-Crowe, Fiona, additional, Mason, Joanne, additional, McDonagh, Ellen M., additional, Moutsianas, Loukas, additional, Mueller, Michael, additional, Murugaesu, Nirupa, additional, Need, Anna C., additional, Odhams, Chris A., additional, Patch, Christine, additional, Perez-Gil, Daniel, additional, Polychronopoulos, Dimitris, additional, Pullinger, John, additional, Rahim, Tahrima, additional, Rendon, Augusto, additional, Riesgo-Ferreiro, Pablo, additional, Rogers, Tim, additional, Savage, Kevin, additional, Sawant, Kushmita, additional, Scott, Richard H., additional, Siddiq, Afshan, additional, Sieghart, Alexander, additional, Smedley, Damian, additional, Smith, Katherine R., additional, Sosinsky, Alona, additional, Spooner, William, additional, Stevens, Helen E., additional, Stuckey, Alexander, additional, Sultana, Razvan, additional, Thomas, Ellen R.A., additional, Thompson, Simon R., additional, Tregidgo, Carolyn, additional, Walsh, Emma, additional, Watters, Sarah A., additional, Welland, Matthew J., additional, Williams, Eleanor, additional, Witkowska, Katarzyna, additional, Wood, Suzanne M., additional, Zarowiecki, Magdalena, additional, Arepalli, Sampath, additional, Auluck, Pavan, additional, Baloh, Robert H., additional, Bowser, Robert, additional, Brice, Alexis, additional, Broach, James, additional, Camu, William, additional, Cooper-Knock, John, additional, Corcia, Philippe, additional, Drepper, Carsten, additional, Drory, Vivian E., additional, Dunckley, Travis L., additional, Faghri, Faraz, additional, Farren, Jennifer, additional, Feldman, Eva, additional, Floeter, Mary Kay, additional, Fratta, Pietro, additional, Gerhard, Glenn, additional, Gibson, Summer B., additional, Goutman, Stephen A., additional, Heiman-Patterson, Terry D., additional, Hernandez, Dena G., additional, Hoover, Ben, additional, Jansson, Lilja, additional, Kamel, Freya, additional, Kirby, Janine, additional, Kowall, Neil W., additional, Laaksovirta, Hannu, additional, Landi, Francesco, additional, Le Ber, Isabelle, additional, Lumbroso, Serge, additional, MacGowan, Daniel JL., additional, Maragakis, Nicholas J., additional, Mora, Gabriele, additional, Mouzat, Kevin, additional, Myllykangas, Liisa, additional, Nalls, Mike A., additional, Orrell, Richard W., additional, Ostrow, Lyle W., additional, Pamphlett, Roger, additional, Pioro, Erik, additional, Pulst, Stefan M., additional, Ravits, John M., additional, Renton, Alan E., additional, Robberecht, Wim, additional, Robey, Ian, additional, Rogaeva, Ekaterina, additional, Rothstein, Jeffrey D., additional, Sendtner, Michael, additional, Sidle, Katie C., additional, Simmons, Zachary, additional, Stone, David J., additional, Tienari, Pentti J., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Valori, Miko, additional, Van Damme, Philip, additional, Van Den Bosch, Ludo, additional, Zinman, Lorne, additional, Albani, Diego, additional, Borroni, Barbara, additional, Padovani, Alessandro, additional, Bruni, Amalia, additional, Clarimon, Jordi, additional, Dols-Icardo, Oriol, additional, Illán-Gala, Ignacio, additional, Lleó, Alberto, additional, Danek, Adrian, additional, Galimberti, Daniela, additional, Scarpini, Elio, additional, Serpente, Maria, additional, Graff, Caroline, additional, Chiang, Huei-Hsin, additional, Khoshnood, Behzad, additional, Öijerstedt, Linn, additional, Morris, Christopher M., additional, Nacmias, Benedetta, additional, Sorbi, Sandro, additional, Nielsen, Jorgen E., additional, Hjermind, Lynne E., additional, Novelli, Valeria, additional, Puca, Annibale A., additional, Pastor, Pau, additional, Alvarez, Ignacio, additional, Diez-Fairen, Monica, additional, Aguilar, Miquel, additional, Perneczky, Robert, additional, Diehl-Schimd, Janine, additional, Rossi, Mina, additional, Ruiz, Agustin, additional, Boada, Mercè, additional, Hernández, Isabel, additional, Moreno-Grau, Sonia, additional, Schlachetzki, Johannes C., additional, Aarsland, Dag, additional, Albert, Marilyn S., additional, Attems, Johannes, additional, Barrett, Matthew J., additional, Beach, Thomas G., additional, Bekris, Lynn M., additional, Bennett, David A., additional, Besser, Lilah M., additional, Bigio, Eileen H., additional, Black, Sandra E., additional, Boeve, Bradley F., additional, Bohannan, Ryan C., additional, Brett, Francesca, additional, Brunetti, Maura, additional, Caraway, Chad A., additional, Palma, Jose-Alberto, additional, Calvo, Andrea, additional, Canosa, Antonio, additional, Dickson, Dennis, additional, Duyckaerts, Charles, additional, Faber, Kelley, additional, Ferman, Tanis, additional, Flanagan, Margaret E., additional, Floris, Gianluca, additional, Foroud, Tatiana M., additional, Fortea, Juan, additional, Gan-Or, Ziv, additional, Gentleman, Steve, additional, Ghetti, Bernardino, additional, Gibbs, Jesse Raphael, additional, Goate, Alison, additional, Goldstein, David, additional, González-Aramburu, Isabel, additional, Graff-Radford, Neill R., additional, Hodges, Angela K., additional, Hu, Heng-Chen, additional, Hupalo, Daniel, additional, Infante, Jon, additional, Iranzo, Alex, additional, Kaiser, Scott M., additional, Kaufmann, Horacio, additional, Keith, Julia, additional, Kim, Ronald C., additional, Klein, Gregory, additional, Krüger, Rejko, additional, Kukull, Walter, additional, Kuzma, Amanda, additional, Lage, Carmen, additional, Lesage, Suzanne, additional, Leverenz, James B., additional, Logroscino, Giancarlo, additional, Lopez, Grisel, additional, Love, Seth, additional, Mao, Qinwen, additional, Marti, Maria Jose, additional, Martinez-McGrath, Elisa, additional, Masellis, Mario, additional, Masliah, Eliezer, additional, May, Patrick, additional, McKeith, Ian, additional, Mesulam, Marek-Marsel, additional, Monuki, Edwin S., additional, Newell, Kathy L., additional, Norcliffe-Kaufmann, Lucy, additional, Palmer, Laura, additional, Perkins, Matthew, additional, Pletnikova, Olga, additional, Molina-Porcel, Laura, additional, Reynolds, Regina H., additional, Rodríguez-Rodríguez, Eloy, additional, Rohrer, Jonathan D., additional, Sanchez-Juan, Pascual, additional, Scherzer, Clemens R., additional, Serrano, Geidy E., additional, Shakkottai, Vikram, additional, Sidransky, Ellen, additional, Tayebi, Nahid, additional, Thomas, Alan J., additional, Tilley, Bension S., additional, Walton, Ronald L., additional, Woltjer, Randy, additional, Wszolek, Zbigniew K., additional, Xiromerisiou, Georgia, additional, Zecca, Chiara, additional, Phatnani, Hemali, additional, Kwan, Justin, additional, Sareen, Dhruv, additional, Broach, James R., additional, Arcila-Londono, Ximena, additional, Lee, Edward B., additional, Shneider, Neil A., additional, Fraenkel, Ernest, additional, Zaitlen, Noah, additional, Berry, James D., additional, Malaspina, Andrea, additional, Cox, Gregory A., additional, Thompson, Leslie M., additional, Finkbeiner, Steve, additional, Dardiotis, Efthimios, additional, Miller, Timothy M., additional, Chandran, Siddharthan, additional, Pal, Suvankar, additional, Hornstein, Eran, additional, MacGowan, Daniel J., additional, Heiman-Patterson, Terry, additional, Hammell, Molly G., additional, Patsopoulos, Nikolaos.A., additional, Butovsky, Oleg, additional, Dubnau, Joshua, additional, Nath, Avindra, additional, Harms, Matt, additional, Aronica, Eleonora, additional, Poss, Mary, additional, Phillips-Cremins, Jennifer, additional, Crary, John, additional, Atassi, Nazem, additional, Lange, Dale J., additional, Adams, Darius J., additional, Stefanis, Leonidas, additional, Gotkine, Marc, additional, Babu, Suma, additional, Raj, Towfique, additional, Paganoni, Sabrina, additional, Shalem, Ophir, additional, Smith, Colin, additional, Zhang, Bin, additional, Harris, Brent, additional, Broce, Iris, additional, Drory, Vivian, additional, Ravits, John, additional, McMillan, Corey, additional, Menon, Vilas, additional, Wu, Lani, additional, Altschuler, Steven, additional, Amar, Khaled, additional, Archibald, Neil, additional, Bandmann, Oliver, additional, Capps, Erica, additional, Church, Alistair, additional, Coebergh, Jan, additional, Costantini, Alyssa, additional, Critchley, Peter, additional, Ghosh, Boyd CP., additional, Hu, Michele T.M., additional, Kobylecki, Christopher, additional, Leigh, P. Nigel, additional, Mann, Carl, additional, Massey, Luke A., additional, Nath, Uma, additional, Pavese, Nicola, additional, Paviour, Dominic, additional, Sharma, Jagdish, additional, and Vaughan, Jenny, additional
Published: 2021
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45. Fatty acid percentage in erythrocyte membranes of atrial flutter/fibrillation patients and controls

Author: Anselmi, Chiara Viviani, Ferreri, Carla, Novelli, Valeria, Roncarati, Roberta, Bronzini, Roberta, Marchese, Giovanni, Somalvico, Francesco, Condorelli, Gianluigi, Montenero, Annibale Sandro, and Puca, Annibale Alessandro
Published: 2010
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46. Mutational Spectrum of the Oral-Facial-Digital Type I Syndrome: A Study on a Large Collection of Patients

Author: Prattichizzo, Clelia, Macca, Marina, Novelli, Valeria, Giorgio, Giovanna, Barra, Adriano, and Franco, Brunella
Published: 2008
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47. Pleiotropic Phenotypes Associated With PKP2 Variants

Author: Novelli, Valeria, primary, Malkani, Kabir, additional, and Cerrone, Marina, additional
Published: 2018
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48. A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia

Author: Palluzzi, Fernando, primary, Ferrari, Raffaele, additional, Graziano, Francesca, additional, Novelli, Valeria, additional, Rossi, Giacomina, additional, Galimberti, Daniela, additional, Rainero, Innocenzo, additional, Benussi, Luisa, additional, Nacmias, Benedetta, additional, Bruni, Amalia C., additional, Cusi, Daniele, additional, Salvi, Erika, additional, Borroni, Barbara, additional, and Grassi, Mario, additional
Published: 2017
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49. Editorial: Current Challenges in Cardiovascular Molecular Diagnostics

Author: Novelli, Valeria, primary and Vatta, Matteo, additional
Published: 2017
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50. Arrhythmogenic Right Ventricular Cardiomyopathy

Author: Mazzanti, Andrea, primary, Ng, Kevin, additional, Faragli, Alessandro, additional, Maragna, Riccardo, additional, Chiodaroli, Elena, additional, Orphanou, Nicoletta, additional, Monteforte, Nicola, additional, Memmi, Mirella, additional, Gambelli, Patrick, additional, Novelli, Valeria, additional, Bloise, Raffaella, additional, Catalano, Oronzo, additional, Moro, Guido, additional, Tibollo, Valentina, additional, Morini, Massimo, additional, Bellazzi, Riccardo, additional, Napolitano, Carlo, additional, Bagnardi, Vincenzo, additional, and Priori, Silvia G., additional
Published: 2016
Full Text: View/download PDF

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