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201. GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort.

Author

Petrucci, Simona, Ginevrino, Monia, Trezzi, Ilaria, Monfrini, Edoardo, Ricciardi, Lucia, Albanese, Alberto, Avenali, Micol, Barone, Paolo, Bentivoglio, Anna Rita, Bonifati, Vincenzo, Bove, Francesco, Bonanni, Laura, Brusa, Livia, Cereda, Cristina, Cossu, Giovanni, Criscuolo, Chiara, Dati, Giovanna, De Rosa, Anna, Eleopra, Roberto, and Fabbrini, Giovanni

Abstract

Background: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD). The impact of different variants on the PD clinical spectrum is still unclear. Objectives: We determined the frequency of GBA‐related PD in Italy and correlated GBA variants with motor and nonmotor features and their occurrence over time. Methods: Sanger sequencing of the whole GBA gene was performed. Variants were classified as mild, severe, complex, and risk. β‐glucocerebrosidase activity was measured. The Kaplan‐Meier method and Cox proportional hazard regression models were performed. Results: Among 874 patients with PD, 36 variants were detected in 14.3%, including 20.4% early onset. Patients with GBA‐PD had earlier and more frequent occurrence of several nonmotor symptoms. Patients with severe and complex GBA‐PD had the highest burden of symptoms and a higher risk of hallucinations and cognitive impairment. Complex GBA‐PD had the lowest β‐glucocerebrosidase activity. Conclusions: GBA‐PD is highly prevalent in Italy. Different types of mutations underlie distinct phenotypic profiles. © 2020 International Parkinson and Movement Disorder Society [ABSTRACT FROM AUTHOR]

Published
2020
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202. HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation.

Author

Arosio, Alessandro, Cristofani, Riccardo, Pansarasa, Orietta, Crippa, Valeria, Riva, Chiara, Sirtori, Riccardo, Rodriguez-Menendez, Virginia, Riva, Nilo, Gerardi, Francesca, Lunetta, Christian, Cereda, Cristina, Poletti, Angelo, Ferrarese, Carlo, Tremolizzo, Lucio, and Sala, Gessica

Subjects
LYMPHOBLASTOID cell lines, PROTEIN expression, AMYOTROPHIC lateral sclerosis, MOTOR neurons, BLOOD cells
Abstract

Aim: The demonstration that chaperone-mediated autophagy (CMA) contributes to the degradation of TDP-43, the main constituent of cytoplasmic inclusions typically found in motor neurons of patients with sporadic amyotrophic lateral sclerosis (sALS), has pointed out a possible involvement of CMA in aggregate formation. To explore this possibility, in this study, we verified the presence of a possible systemic CMA alteration in sALS patients and its effect on TDP-43 expression. Materials and methods: Gene and protein expression of the cytosolic chaperone HSC70 and the lysosome receptor LAMP2A, the two pivotal mediators of CMA, was assessed in peripheral blood mononuclear cells (PBMCs) derived from 30 sALS patients and 30 healthy controls. The expression of TDP-43 and co-chaperones BAG1 and BAG3 was also analyzed. Results: We found reduced HSC70 expression in patient cells, with no change in LAMP2A, and increased insoluble TDP-43 protein levels, with an aberrant intracellular localization. We also observed an unbalanced expression of co-chaperones BAG1 and BAG3. HSC70 down-regulation was confirmed in immortalized lymphoblastoid cell lines derived from sporadic and TARDBP mutant ALS patients. Lastly, we demonstrated that HSC70 silencing directly increases TDP-43 protein levels in human neuroblastoma cells. Discussion: Our results do not support the existence of a systemic CMA alteration in sALS patients but indicate a direct involvement of HSC70 alterations in ALS pathogenesis. [ABSTRACT FROM AUTHOR]

Published
2020
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203. Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.

Author

Mori, Roberta De, Severino, Mariasavina, Mancardi, Maria Margherita, Anello, Danila, Tardivo, Silvia, Biagini, Tommaso, Capra, Valeria, Casella, Antonella, Cereda, Cristina, Copeland, Brett R, Gagliardi, Stella, Gamucci, Alessandra, Ginevrino, Monia, Illi, Barbara, Lorefice, Elisa, Musaev, Damir, Stanley, Valentina, Micalizzi, Alessia, Gleeson, Joseph G, and Mazza, Tommaso

Subjects
GLOBUS pallidus, HOMEOBOX genes, BASAL ganglia, OLFACTORY bulb, HUMAN abnormalities, AGENESIS of corpus callosum
Abstract

Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction is observed in many neurodegenerative or metabolic disorders, congenital malformations are rare. In particular, dysplastic basal ganglia are part of the malformative spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neurodevelopmental syndromes characterized by basal ganglia agenesis are not known to date. We ascertained two unrelated children (both female) presenting with spastic tetraparesis, severe generalized dystonia and intellectual impairment, sharing a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. Whole-exome sequencing identified two novel homozygous variants, c.26C>A; p.(S9*) and c.752A>G; p.(Q251R) in the GSX2 gene, a member of the family of homeobox transcription factors, which are key regulators of embryonic development. GSX2 is highly expressed in neural progenitors of the lateral and median ganglionic eminences, two protrusions of the ventral telencephalon from which the basal ganglia and olfactory tubercles originate, where it promotes neurogenesis while negatively regulating oligodendrogenesis. The truncating variant resulted in complete loss of protein expression, while the missense variant affected a highly conserved residue of the homeobox domain, was consistently predicted as pathogenic by bioinformatic tools, resulted in reduced protein expression and caused impaired structural stability of the homeobox domain and weaker interaction with DNA according to molecular dynamic simulations. Moreover, the nuclear localization of the mutant protein in transfected cells was significantly reduced compared to the wild-type protein. Expression studies on both patients' fibroblasts demonstrated reduced expression of GSX2 itself, likely due to altered transcriptional self-regulation, as well as significant expression changes of related genes such as ASCL1 and PAX6. Whole transcriptome analysis revealed a global deregulation in genes implicated in apoptosis and immunity, two broad pathways known to be involved in brain development. This is the first report of the clinical phenotype and molecular basis associated to basal ganglia agenesis in humans. [ABSTRACT FROM AUTHOR]

Published
2019
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205. A motor neuron strategy to save time and energy in neurodegeneration: adaptive protein stoichiometry

Author

Zucchi, Elisabetta, primary, Lu, Ching‐Hua, additional, Cho, Yunju, additional, Chang, Rakwoo, additional, Adiutori, Rocco, additional, Zubiri, Irene, additional, Ceroni, Mauro, additional, Cereda, Cristina, additional, Pansarasa, Orietta, additional, Greensmith, Linda, additional, Malaspina, Andrea, additional, and Petzold, Axel, additional

Published
2018
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207. P2‐512: INFLUENCE OF GENETIC POLYMORPHISMS ON CHANGE IN COGNITIVE DOMAINS, COGNITIVE IMPAIRMENT AND DEMENTIA: AGE EFFECT? RESULTS FROM A FOUR‐YEAR LONGITUDINAL STUDY IN AN ELDERLY POPULATION (INVECE.AB)

Author

Vaccaro, Roberta, primary, Poloni, Tino Emanuele, additional, Medici, Valentina, additional, Chikhladze, Maia, additional, Abbondanza, Simona, additional, Zaccaria, Daniele, additional, Davin, Annalisa, additional, Cereda, Cristina, additional, and Guaita, Antonio, additional

Published
2018
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208. P1‐495: SLOW AND FAST DECLINE DEMENTIA: CLINICAL, PATHOLOGICAL AND GENETIC CHARACTERIZATION OF TWO RELATED CASES

Author

Poloni, Tino Emanuele, primary, Davin, Annalisa, additional, Medici, Valentina, additional, Valente, Maria Luisa, additional, Palmieri, Ilaria, additional, Gagliardi, Stella, additional, Chikhladze, Maia, additional, Carlos, Arenn Faye, additional, Vaccaro, Roberta, additional, Abbondanza, Simona, additional, Cereda, Cristina, additional, Ceretti, Arcangelo, additional, and Guaita, Antonio, additional

Published
2018
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211. The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson’s Disease

Author

Corrado, Lucia, primary, De Marchi, Fabiola, additional, Tunesi, Sara, additional, Oggioni, Gaia Donata, additional, Carecchio, Miryam, additional, Magistrelli, Luca, additional, Tesei, Silvana, additional, Riboldazzi, Giulio, additional, Di Fonzo, Alessio, additional, Locci, Clarissa, additional, Trezzi, Ilaria, additional, Zangaglia, Roberta, additional, Cereda, Cristina, additional, D’Alfonso, Sandra, additional, Magnani, Corrado, additional, Comi, Giacomo P., additional, Bono, Giorgio, additional, Pacchetti, Claudio, additional, Cantello, Roberto, additional, Goldwurm, Stefano, additional, and Comi, Cristoforo, additional

Published
2018
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212. Long non-coding and coding RNAs characterization in Peripheral Blood Mononuclear Cells and Spinal Cord from Amyotrophic Lateral Sclerosis patients

Author

Gagliardi, Stella, primary, Zucca, Susanna, additional, Pandini, Cecilia, additional, Diamanti, Luca, additional, Bordoni, Matteo, additional, Sproviero, Daisy, additional, Arigoni, Maddalena, additional, Olivero, Martina, additional, Pansarasa, Orietta, additional, Ceroni, Mauro, additional, Calogero, Raffaele, additional, and Cereda, Cristina, additional

Published
2018
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213. Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Nicolas, Aude, primary, Kenna, Kevin P., additional, Renton, Alan E., additional, Ticozzi, Nicola, additional, Faghri, Faraz, additional, Chia, Ruth, additional, Dominov, Janice A., additional, Kenna, Brendan J., additional, Nalls, Mike A., additional, Keagle, Pamela, additional, Rivera, Alberto M., additional, Rheenen, Wouter van, additional, Murphy, Natalie A., additional, Vugt, Joke J.F.A. van, additional, Geiger, Joshua T., additional, Van der Spek, Rick A., additional, Pliner, Hannah A., additional, Smith, Bradley N., additional, Marangi, Giuseppe, additional, Topp, Simon D., additional, Abramzon, Yevgeniya, additional, Gkazi, Athina Soragia, additional, Eicher, John D., additional, Kenna, Aoife, additional, Consortium, ITALSGEN, additional, Mora, Gabriele, additional, Calvo, Andrea, additional, Mazzini, Letizia, additional, Riva, Nilo, additional, Mandrioli, Jessica, additional, Caponnetto, Claudia, additional, Battistini, Stefania, additional, Volanti, Paolo, additional, Bella, Vincenzo La, additional, Conforti, Francesca L., additional, Borghero, Giuseppe, additional, Messina, Sonia, additional, Simone, Isabella L., additional, Trojsi, Francesca, additional, Salvi, Fabrizio, additional, Logullo, Francesco O., additional, D’Alfonso, Sandra, additional, Corrado, Lucia, additional, Capasso, Margherita, additional, Ferrucci, Luigi, additional, (GTAC) Consortium, Genomic Translation for ALS Care, additional, Martins Moreno, Cristiane de Araujo, additional, Kamalakaran, Sitharthan, additional, Goldstein, David B., additional, Consortium, The ALS Sequencing, additional, Gitler, Aaron D., additional, Harris, Tim, additional, Myers, Richard M., additional, Consortium, NYGC ALS, additional, Phatnani, Hemali, additional, Musunuri, Rajeeva Lochan, additional, Evani, Uday Shankar, additional, Abhyankar, Avinash, additional, Zody, Michael Charles, additional, Foundation, Answer ALS, additional, Kaye, Julia, additional, Finkbeiner, Steven, additional, Wyman, Stacia, additional, Lenail, Alex, additional, Lima, Leandro, additional, Fraenkel, Ernest, additional, Svendsen, Clive N., additional, Thompson, Leslie M., additional, Van Eyk, Jennifer E., additional, Berry, James D., additional, Miller, Timothy M., additional, Kolb, Stephen J., additional, Cudkowicz, Merit, additional, Baxi, Emily, additional, Development (CReATe) Consortium, Clinical Research in ALS and Relate, additional, Benatar, Michael, additional, Taylor, J. Paul, additional, Rampersaud, Evadnie, additional, Wu, Gang, additional, Wuu, Joanne, additional, Consortium, SLAGEN, additional, Lauria, Giuseppe, additional, Verde, Federico, additional, Fogh, Isabella, additional, Tiloca, Cinzia, additional, Comi, Giacomo P., additional, Sorarù, Gianni, additional, Cereda, Cristina, additional, Consortium, French ALS, additional, Corcia, Philippe, additional, Laaksovirta, Hannu, additional, Myllykangas, Liisa, additional, Jansson, Lilja, additional, Valori, Miko, additional, Ealing, John, additional, Hamdallah, Hesham, additional, Rollinson, Sara, additional, Pickering-Brown, Stuart, additional, Orrell, Richard W., additional, Sidle, Katie C., additional, Malaspina, Andrea, additional, Hardy, John, additional, Singleton, Andrew B., additional, Johnson, Janel O., additional, Arepalli, Sampath, additional, Sapp, Peter C., additional, McKenna-Yasek, Diane, additional, Polak, Meraida, additional, Asress, Seneshaw, additional, Al-Sarraj, Safa, additional, King, Andrew, additional, Troakes, Claire, additional, Vance, Caroline, additional, Belleroche, Jacqueline de, additional, Baas, Frank, additional, Asbroek, Anneloor LMA ten, additional, Muñoz-Blanco, José Luis, additional, Hernandez, Dena G., additional, Ding, Jinhui, additional, Gibbs, J. Raphael, additional, Scholz, Sonja W., additional, Floeter, Mary Kay, additional, Campbell, Roy H., additional, Landi, Francesco, additional, Pulst, Stefan M., additional, Ravits, John M., additional, MacGowan, Daniel J. L., additional, Kirby, Janine, additional, Pioro, Erik, additional, Pamphlett, Roger, additional, Broach, James, additional, Gerhard, Glenn, additional, Dunckley, Travis L., additional, Brady, Christopher B., additional, Kowall, Neil W., additional, Troncoso, Juan C., additional, Le Ber, Isabelle, additional, Mouzat, Kevin, additional, Lumbroso, Serge, additional, Heiman-Patterson, Terry D., additional, Kamel, Freya, additional, Bosch, Ludo Van Den, additional, Baloh, Robert H., additional, Strom, Tim M., additional, Meitinger, Thomas, additional, Shatunov, Aleksey, additional, Van Eijk, Kristel R., additional, de Carvalho, Mamede, additional, Kooyman, Maarten, additional, Middelkoop, Bas, additional, Moisse, Matthieu, additional, McLaughlin, Russell L., additional, Van Es, Michael A., additional, Weber, Markus, additional, Boylan, Kevin B., additional, Van Blitterswijk, Marka, additional, Rademakers, Rosa, additional, Morrison, Karen E., additional, Basak, A. Nazli, additional, Mora, Jesús S., additional, Drory, Vivian E., additional, Shaw, Pamela J., additional, Turner, Martin R., additional, Talbot, Kevin, additional, Hardiman, Orla, additional, Williams, Kelly L., additional, Fifita, Jennifer A., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Rouleau, Guy A., additional, Esteban-Pérez, Jesús, additional, García-Redondo, Alberto, additional, Al-Chalabi, Ammar, additional, Rogaeva, Ekaterina, additional, Zinman, Lorne, additional, Ostrow, Lyle, additional, Maragakis, Nicholas J., additional, Rothstein, Jeffrey D., additional, Simmons, Zachary, additional, Cooper-Knock, Johnathan, additional, Brice, Alexis, additional, Goutman, Stephen A., additional, Feldman, Eva L., additional, Gibson, Summer B., additional, Taroni, Franco, additional, Ratti, Antonia, additional, Gellera, Cinzia, additional, Van Damme, Philip, additional, Robberecht, Wim, additional, Fratta, Pietro, additional, Sabatelli, Mario, additional, Lunetta, Christian, additional, Ludolph, Albert C., additional, Andersen, Peter M., additional, Weishaupt, Jochen H., additional, Camu, William, additional, Trojanowski, John Q., additional, Van Deerlin, Vivianna M., additional, Brown, Robert H., additional, van den Berg, Leonard H., additional, Veldink, Jan H., additional, Harms, Matthew B., additional, Glass, Jonathan D., additional, Stone, David J., additional, Tienari, Pentti, additional, Silani, Vincenzo, additional, Chiò, Adriano, additional, Shaw, Christopher E., additional, Traynor, Bryan J., additional, and Landers, John E., additional

Published
2018
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214. The Paleo-Indian Entry into South America According to Mitogenomes

Author

Brandini, Stefania, primary, Bergamaschi, Paola, additional, Cerna, Marco Fernando, additional, Gandini, Francesca, additional, Bastaroli, Francesca, additional, Bertolini, Emilie, additional, Cereda, Cristina, additional, Ferretti, Luca, additional, Gómez-Carballa, Alberto, additional, Battaglia, Vincenza, additional, Salas, Antonio, additional, Semino, Ornella, additional, Achilli, Alessandro, additional, Olivieri, Anna, additional, and Torroni, Antonio, additional

Published
2017
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216. The Role of SNCA Rep1 Microsatellite in Parkinson’s Disease Progression

Author

Corrado, Lucia, primary, De Marchi, Fabiola, additional, Tunesi, Sara, additional, Oggioni, Gaia, additional, Carecchio, Miryam, additional, Magistrelli, Luca, additional, Tesei, Silvana, additional, Riboldazzi, Giulio, additional, Di Fonzo, Alessio, additional, Locci, Clarissa, additional, Trezzi, Ilaria, additional, Zangaglia, Roberta, additional, Cereda, Cristina, additional, D'Alfonso, Sandra, additional, Magnani, Corrado, additional, Giacomo Pietro, Comi, additional, Bono, Giorgio, additional, Pacchetti, Claudio, additional, Cantello, Roberto, additional, Goldwurm, Stefano, additional, and Comi, Cristoforo, additional

Published
2017
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217. Critical appraisal of "choosing which in-hospital laboratory tests to target for intervention: a scoping review".

Author

Ferraro, Simona, Cereda, Cristina, Zuccotti, Gianvincenzo, and Biganzoli, Elia Mario

Subjects
*PROSTATE-specific antigen, *MEDICAL care costs
Abstract

Appropriateness, budget, cost-effectiveness, healthcare Keywords: appropriateness; budget; cost-effectiveness; healthcare EN appropriateness budget cost-effectiveness healthcare e48 e49 2 01/30/23 20230301 NES 230301 To the Editor, We have read with interest the scoping review by Podolsky et al. reporting about the identification of the main factors influencing test request [[1]]. Accordingly, we should account that currently, Health Technology Assessment (HTA) is one of the main approach recognized to capture the actual value of the biomarkers in the healthcare pathway, and that in most cases HTA reporting has contributed to re-define the criteria for appropriateness of the test request [[6]]. [Extracted from the article]

Published
2023
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219. A Surveillance Function of the HSPB8-BAG3-HSP70 Chaperone Complex Ensures Stress Granule Integrity and Dynamism

Author

Ganassi, Massimo, primary, Mateju, Daniel, additional, Bigi, Ilaria, additional, Mediani, Laura, additional, Poser, Ina, additional, Lee, Hyun O., additional, Seguin, Samuel J., additional, Morelli, Federica F., additional, Vinet, Jonathan, additional, Leo, Giuseppina, additional, Pansarasa, Orietta, additional, Cereda, Cristina, additional, Poletti, Angelo, additional, Alberti, Simon, additional, and Carra, Serena, additional

Published
2016
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220. The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity

Author

Crippa, Valeria, primary, Cicardi, Maria Elena, additional, Ramesh, Nandini, additional, Seguin, Samuel J., additional, Ganassi, Massimo, additional, Bigi, Ilaria, additional, Diacci, Chiara, additional, Zelotti, Elena, additional, Baratashvili, Madina, additional, Gregory, Jenna M., additional, Dobson, Christopher M., additional, Cereda, Cristina, additional, Pandey, Udai Bhan, additional, Poletti, Angelo, additional, and Carra, Serena, additional

Published
2016
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221. Association of a Locus in theCAMTA1Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Author

Fogh, Isabella, primary, Lin, Kuang, additional, Tiloca, Cinzia, additional, Rooney, James, additional, Gellera, Cinzia, additional, Diekstra, Frank P., additional, Ratti, Antonia, additional, Shatunov, Aleksey, additional, van Es, Michael A., additional, Proitsi, Petroula, additional, Jones, Ashley, additional, Sproviero, William, additional, Chiò, Adriano, additional, McLaughlin, Russell Lewis, additional, Sorarù, Gianni, additional, Corrado, Lucia, additional, Stahl, Daniel, additional, Del Bo, Roberto, additional, Cereda, Cristina, additional, Castellotti, Barbara, additional, Glass, Jonathan D., additional, Newhouse, Steven, additional, Dobson, Richard, additional, Smith, Bradley N., additional, Topp, Simon, additional, van Rheenen, Wouter, additional, Meininger, Vincent, additional, Melki, Judith, additional, Morrison, Karen E., additional, Shaw, Pamela J., additional, Leigh, P. Nigel, additional, Andersen, Peter M., additional, Comi, Giacomo P., additional, Ticozzi, Nicola, additional, Mazzini, Letizia, additional, D’Alfonso, Sandra, additional, Traynor, Bryan J., additional, Van Damme, Philip, additional, Robberecht, Wim, additional, Brown, Robert H., additional, Landers, John E., additional, Hardiman, Orla, additional, Lewis, Cathryn M., additional, van den Berg, Leonard H., additional, Shaw, Christopher E., additional, Veldink, Jan H., additional, Silani, Vincenzo, additional, Al-Chalabi, Ammar, additional, and Powell, John, additional

Published
2016
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223. Blood-Based Biomarker Candidates of Cerebral Amyloid Using PiB PET in Non-Demented Elderly

Author

Westwood, Sarah, primary, Leoni, Emanuela, additional, Hye, Abdul, additional, Lynham, Steven, additional, Khondoker, Mizanur R., additional, Ashton, Nicholas J., additional, Kiddle, Steven J., additional, Baird, Alison L., additional, Sainz-Fuertes, Ricardo, additional, Leung, Rufina, additional, Graf, John, additional, Hehir, Cristina Tan, additional, Baker, David, additional, Cereda, Cristina, additional, Bazenet, Chantal, additional, Ward, Malcolm, additional, Thambisetty, Madhav, additional, and Lovestone, Simon, additional

Published
2016
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224. Transcriptional induction of the heat shock protein B8 mediates the clearance of misfolded proteins responsible for motor neuron diseases

Author

Crippa, Valeria, primary, D’Agostino, Vito G., additional, Cristofani, Riccardo, additional, Rusmini, Paola, additional, Cicardi, Maria E., additional, Messi, Elio, additional, Loffredo, Rosa, additional, Pancher, Michael, additional, Piccolella, Margherita, additional, Galbiati, Mariarita, additional, Meroni, Marco, additional, Cereda, Cristina, additional, Carra, Serena, additional, Provenzani, Alessandro, additional, and Poletti, Angelo, additional

Published
2016
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225. Hydrogen peroxide-mediated induction of SOD1 gene transcription is independent from Nrf2 in a cellular model of neurodegeneration

Author

Dell'Orco, Michela, primary, Milani, Pamela, additional, Arrigoni, Laura, additional, Pansarasa, Orietta, additional, Sardone, Valentina, additional, Maffioli, Elisa, additional, Polveraccio, Francesca, additional, Bordoni, Matteo, additional, Diamanti, Luca, additional, Ceroni, Mauro, additional, Peverali, Fiorenzo A., additional, Tedeschi, Gabriellla, additional, and Cereda, Cristina, additional

Published
2016
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230. SOD1 and DJ-1 Converge at Nrf2 Pathway: A Clue for Antioxidant Therapeutic Potential in Neurodegeneration

Author

Milani, Pamela, Ambrosi, Giulia, Gammoh, Omar, Blandini, Fabio, and Cereda, Cristina

Subjects
Article Subject
Abstract

Neurodegenerative diseases share diverse pathological features and among these oxidative stress (OS) plays a leading role. Impaired activity and reduced expression of antioxidant proteins have been reported as common events in several aging-associated disorders. In this review paper, we first provide an overview of the involvement of reactive oxygen species- (ROS-) induced oxidative damage in Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS). Subsequently, we focus on DJ-1 and SOD1 proteins, which are involved in PD and ALS and also exert a prominent role in the interaction between redox homeostasis and neurodegeneration. Interestingly, recent studies demonstrated that DJ-1 and SOD1 are both tightly connected with Nrf2 protein, a transcriptional factor and master regulator of the expression of many antioxidant/detoxification genes. Nrf2 is emerging as a key neuroprotective protein in neurodegenerative diseases, since it helps neuronal cells to cope with toxic insults and OS. We herein summarize the recent literature providing a detailed picture of the promising therapeutic efficacy of Nrf2 natural and synthetic inducers as disease-modifying molecules for the treatment of neurodegenerative diseases.

Published
2013
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231. The Paleo-Indian Entry into South America According to Mitogenomes.

Author

Brandini, Stefania, Bergamaschi, Paola, Cerna, Marco Fernando, Gandini, Francesca, Bastaroli, Francesca, Bertolini, Emilie, Cereda, Cristina, Ferretti, Luca, Gómez-Carballa, Alberto, and Battaglia, Vincenza

Abstract

Recent and compelling archaeological evidence attests to human presence ~14.5 ka at multiple sites in South America and a very early exploitation of extreme high-altitude Andean environments. Considering that, according to genetic evidence, human entry into North America from Beringia most likely occurred ~16 ka, these archeological findings would imply an extremely rapid spread along the double continent. To shed light on this issue froma genetic perspective, we first completely sequenced 217 novel modern mitogenomes of Native American ancestry from the northwestern area of South America (Ecuador and Peru); we then evaluated them phylogenetically together with other available mitogenomes (430 samples, both modern and ancient) from the same geographic area and, finally, with all closely related mitogenomes from the entire double continent. We detected a large number (N=48) of novel subhaplogroups, often branching into further subclades, belonging to two classes: those that arose in South America early after its peopling and those that instead originated in North or Central America and reached South America with the first settlers. Coalescence age estimates for these subhaplogroups provide time boundaries indicating that early Paleo-Indians probably moved from North America to the area corresponding to modern Ecuador and Peru over the short time frame of ~1.5 ka comprised between 16.0 and 14.6 ka. [ABSTRACT FROM AUTHOR]

Published
2018
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232. L’infiammazione nella malattia di Alzheimer: la genetica come fattore di rischio

Author

Berzero, Giulia, Colombo, Elena, Cereda, Cristina, Ceroni, Mauro, and Moglia, Arrigo

Abstract

La malattia di Alzheimer è una patologia neurodegenerativa ad eziologia multifattoriale al cui sviluppo contribuiscono fattori genetici e ambientali. Nell’ultimo decennio, grazie a studi epidemiologici, autoptici e sperimentali, si é consolidata l’evidenza che la neuroinfiammazione contribuisce in maniera consistente a determinare la perdita neuronale; studi successivi hanno quindi analizzato i polimorfismi di geni codificanti per citochine e mediatori infiammatori alla ricerca di un profilo genetico di suscettibilità alla malattia. Nel nostro studio abbiamo considerato due polimorfismi del gene RAGE (-374 T/A e -429 T/C) e tre polimorfismi del gene TNF-α (-857, -308 e -238 G/A), in quanto entrambi questi mediatori infiammatori sono fortemente coinvolti nel processo patogenetico della malattia. Abbiamo reclutato 33 pazienti affetti da deterioramento cognitivo afferenti alle strutture della Fondazione C. Mondino (22 AD, 8 VaD, 3 MCI) e 220 controlli sani paragonabili per sesso, età ed etnia alla popolazione studiata. L’obiettivo della nostra ricerca è stato duplice: in primo luogo stabilire se vi fossero polimorfismi di questi due geni in grado di aumentare la suscettibilità individuale alla malattia e in secondo luogo verificare se tali polimorfismi correlassero con alcuni parametri clinici (età d’esordio e velocità di progressione, valutata con il MMSE) e infiammatori (CRP e PINI). Abbiamo quindi calcolato le frequenze alleliche e genotipiche dei polimorfismi nel gruppo degli affetti e dei controlli ed è emerso che il genotipo AG del polimorfismo -238 G/A di TNF-α è significativamente più frequente nella popolazione degli affetti (frequenze genotipiche χ²=0.013, alleliche χ²=0.046). Inoltre, dato che i geni RAGE e TNF-α mappano entrambi sul cromosoma 6 nella regione HLA III, abbiamo calcolato le frequenze aplotipiche derivanti dalla combinazione dei cinque polimorfismi studiati ed è emerso che l’aplotipo TTGAA è significativamente meno frequente nel gruppo degli affetti (p-value=0.018). Non sono invece emerse correlazioni statisticamente significative tra i polimorfismi e i parametri clinici (età esordio e velocità di progressione) e infiammatori (CRP e PINI)., Bollettino della Società Medico Chirurgica di Pavia, Vol 124, N° 3 (2011)

Published
2012
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233. From Transcriptome to Noncoding RNAs: Implications in ALS Mechanism

Author

Gagliardi, Stella, Milani, Pamela, Sardone, Valentina, Pansarasa, Orietta, and Cereda, Cristina

Subjects
Article Subject
Abstract

In the last years, numerous studies have focused on understanding the metabolism of RNA and its implication in disease processes but abnormal RNA metabolism is still unknown. RNA plays a central role in translating genetic information into proteins and in many other catalytic and regulatory tasks. Recent advances in the study of RNA metabolism revealed complex pathways for the generation and maintenance of functional RNA in amyotrophic lateral sclerosis (ALS). Interestingly, perturbations in RNA processing have been described in ALS at various levels such as gene transcription, mRNA stabilization, transport, and translational regulations. In this paper, we will discuss the alteration of RNA profile in ALS disease, starting from transcription, the first step leading to gene expression, through the posttranscriptional regulation, including RNA/DNA binding proteins and aberrant exon splicing to protein noncoding RNAs, as lncRNA and microRNA.

Published
2012
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235. Extraction of Clinical Information from Clinical Reports: an Application to the Study of Medication Overuse Headaches in Italy

Author

Larizza, Cristiana, Gabetta, Matteo, Rojas Barahona, Lina Maria, Milani, Giusseppe, Guaschino, Elena, Sances, Grazia, Cereda, Cristina, Bellazzi, Riccardo, Laboratory for BioMedical Informatics (BMI), University of Pavia, Natural Language Processing: representation, inference and semantics (TALARIS), Inria Nancy - Grand Est, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Lorrain de Recherche en Informatique et ses Applications (LORIA), Institut National de Recherche en Informatique et en Automatique (Inria)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS)-Université Henri Poincaré - Nancy 1 (UHP)-Université Nancy 2-Institut National Polytechnique de Lorraine (INPL)-Centre National de la Recherche Scientifique (CNRS), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione 'Istituto Neurologico Nazionale C. Mondino', and Università degli Studi di Pavia = University of Pavia (UNIPV)

Subjects
education, Information Extraction, Medical informatics, [INFO.INFO-CL]Computer Science [cs]/Computation and Language [cs.CL], ACM: I.: Computing Methodologies/I.2: ARTIFICIAL INTELLIGENCE/I.2.7: Natural Language Processing
Abstract

International audience; A i2b2-Pavia pilot project has been recently activated at the Headache Centre of the C. Mondino Institute of Neurology, in Pavia, with the aim of investigating Medical Overuse Headaches. The software infrastructure so far implemented automatically extracts and integrates data coming from different sources into a repository purposely designed for multidimensional inspection. A great effort has been devoted to train a Natural Language Processing system able to extract medical concepts from Italian clinical reports.

Published
2010

236. Characterization of human disease phenotypes associated with mutations inTREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, andIFIH1

Author

Crow, Yanick J., primary, Chase, Diana S., additional, Lowenstein Schmidt, Johanna, additional, Szynkiewicz, Marcin, additional, Forte, Gabriella M.A., additional, Gornall, Hannah L., additional, Oojageer, Anthony, additional, Anderson, Beverley, additional, Pizzino, Amy, additional, Helman, Guy, additional, Abdel-Hamid, Mohamed S., additional, Abdel-Salam, Ghada M., additional, Ackroyd, Sam, additional, Aeby, Alec, additional, Agosta, Guillermo, additional, Albin, Catherine, additional, Allon-Shalev, Stavit, additional, Arellano, Montse, additional, Ariaudo, Giada, additional, Aswani, Vijay, additional, Babul-Hirji, Riyana, additional, Baildam, Eileen M., additional, Bahi-Buisson, Nadia, additional, Bailey, Kathryn M., additional, Barnerias, Christine, additional, Barth, Magalie, additional, Battini, Roberta, additional, Beresford, Michael W., additional, Bernard, Geneviève, additional, Bianchi, Marika, additional, Billette de Villemeur, Thierry, additional, Blair, Edward M., additional, Bloom, Miriam, additional, Burlina, Alberto B., additional, Luisa Carpanelli, Maria, additional, Carvalho, Daniel R., additional, Castro-Gago, Manuel, additional, Cavallini, Anna, additional, Cereda, Cristina, additional, Chandler, Kate E., additional, Chitayat, David A., additional, Collins, Abigail E., additional, Sierra Corcoles, Concepcion, additional, Cordeiro, Nuno J.V., additional, Crichiutti, Giovanni, additional, Dabydeen, Lyvia, additional, Dale, Russell C., additional, D′Arrigo, Stefano, additional, De Goede, Christian G.E.L., additional, De Laet, Corinne, additional, De Waele, Liesbeth M.H., additional, Denzler, Ines, additional, Desguerre, Isabelle, additional, Devriendt, Koenraad, additional, Di Rocco, Maja, additional, Fahey, Michael C., additional, Fazzi, Elisa, additional, Ferrie, Colin D., additional, Figueiredo, António, additional, Gener, Blanca, additional, Goizet, Cyril, additional, Gowrinathan, Nirmala R., additional, Gowrishankar, Kalpana, additional, Hanrahan, Donncha, additional, Isidor, Bertrand, additional, Kara, Bülent, additional, Khan, Nasaim, additional, King, Mary D., additional, Kirk, Edwin P., additional, Kumar, Ram, additional, Lagae, Lieven, additional, Landrieu, Pierre, additional, Lauffer, Heinz, additional, Laugel, Vincent, additional, Piana, Roberta La, additional, Lim, Ming J., additional, Lin, Jean-Pierre S.-M., additional, Linnankivi, Tarja, additional, Mackay, Mark T., additional, Marom, Daphna R., additional, Marques Lourenço, Charles, additional, McKee, Shane A., additional, Moroni, Isabella, additional, Morton, Jenny E.V., additional, Moutard, Marie-Laure, additional, Murray, Kevin, additional, Nabbout, Rima, additional, Nampoothiri, Sheela, additional, Nunez-Enamorado, Noemi, additional, Oades, Patrick J., additional, Olivieri, Ivana, additional, Ostergaard, John R., additional, Pérez-Dueñas, Belén, additional, Prendiville, Julie S., additional, Ramesh, Venkateswaran, additional, Rasmussen, Magnhild, additional, Régal, Luc, additional, Ricci, Federica, additional, Rio, Marlène, additional, Rodriguez, Diana, additional, Roubertie, Agathe, additional, Salvatici, Elisabetta, additional, Segers, Karin A., additional, Sinha, Gyanranjan P., additional, Soler, Doriette, additional, Spiegel, Ronen, additional, Stödberg, Tommy I., additional, Straussberg, Rachel, additional, Swoboda, Kathryn J., additional, Suri, Mohnish, additional, Tacke, Uta, additional, Tan, Tiong Y., additional, te Water Naude, Johann, additional, Wee Teik, Keng, additional, Mary Thomas, Maya, additional, Till, Marianne, additional, Tonduti, Davide, additional, Maria Valente, Enza, additional, Noel Van Coster, Rudy, additional, van der Knaap, Marjo S., additional, Vassallo, Grace, additional, Vijzelaar, Raymon, additional, Vogt, Julie, additional, Wallace, Geoffrey B., additional, Wassmer, Evangeline, additional, Webb, Hannah J., additional, Whitehouse, William P., additional, Whitney, Robyn N., additional, Zaki, Maha S., additional, Zuberi, Sameer M., additional, Livingston, John H., additional, Rozenberg, Flore, additional, Lebon, Pierre, additional, Vanderver, Adeline, additional, Orcesi, Simona, additional, and Rice, Gillian I., additional

Published
2015
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237. Sporadic and familial glut1ds Italian patients: A wide clinical variability

Author

De Giorgis, Valentina, primary, Teutonico, Federica, additional, Cereda, Cristina, additional, Balottin, Umberto, additional, Bianchi, Marika, additional, Giordano, Lucio, additional, Olivotto, Sara, additional, Ragona, Francesca, additional, Tagliabue, Anna, additional, Zorzi, Giovanna, additional, Nardocci, Nardo, additional, and Veggiotti, Pierangelo, additional

Published
2015
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238. Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Author

Smith, Bradley N., primary, Ticozzi, Nicola, additional, Fallini, Claudia, additional, Gkazi, Athina Soragia, additional, Topp, Simon, additional, Kenna, Kevin P., additional, Scotter, Emma L., additional, Kost, Jason, additional, Keagle, Pamela, additional, Miller, Jack W., additional, Calini, Daniela, additional, Vance, Caroline, additional, Danielson, Eric W., additional, Troakes, Claire, additional, Tiloca, Cinzia, additional, Al-Sarraj, Safa, additional, Lewis, Elizabeth A., additional, King, Andrew, additional, Colombrita, Claudia, additional, Pensato, Viviana, additional, Castellotti, Barbara, additional, de Belleroche, Jacqueline, additional, Baas, Frank, additional, ten Asbroek, Anneloor LMA, 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, Simpson, Michael, additional, van Rheenen, Wouter, additional, Diekstra, Frank P., additional, Lauria, Giuseppe, additional, Duga, Stefano, additional, Corti, Stefania, additional, Cereda, Cristina, additional, Corrado, Lucia, additional, Sorarù, Gianni, additional, Morrison, Karen E., additional, Williams, Kelly L., additional, Nicholson, Garth A., additional, Blair, Ian P., additional, Dion, Patrick A., additional, Leblond, Claire S., additional, Rouleau, Guy A., additional, Hardiman, Orla, 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, Glass, Jonathan D., additional, Gellera, Cinzia, additional, Ratti, Antonia, additional, Brown, Robert H., additional, Silani, Vincenzo, additional, Shaw, Christopher E., additional, Landers, John E., 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, and Bertolin, Cinzia, additional

Published
2014
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239. Study of lncRNAs in Pediatric Neurological Diseases: Methods, Analysis of the State-of-Art and Possible Therapeutic Implications.

Author

Pandini, Cecilia, Rey, Federica, Cereda, Cristina, Carelli, Stephana, and Gandellini, Paolo

Subjects
*NEURAL stem cells, *NEUROLOGICAL disorders, *LINCRNA, *PEDIATRIC neurology, *NEURAL development, *CENTRAL nervous system
Abstract

Long non-coding RNAs (lncRNAs) have emerged as crucial regulators in various cellular processes, and their roles in pediatric neurological diseases are increasingly being explored. This review provides an overview of lncRNA implications in the central nervous system, both in its physiological state and when a pathological condition is present. We describe the role of lncRNAs in neural development, highlighting their significance in processes such as neural stem cell proliferation, differentiation, and synaptogenesis. Dysregulation of specific lncRNAs is associated with multiple pediatric neurological diseases, such as neurodevelopmental or neurodegenerative disorders and brain tumors. The collected evidence indicates that there is a need for further research to uncover the full spectrum of lncRNA involvement in pediatric neurological diseases and brain tumors. While challenges exist, ongoing advancements in technology and our understanding of lncRNA biology offer hope for future breakthroughs in the field of pediatric neurology, leveraging lncRNAs as potential therapeutic targets and biomarkers. [ABSTRACT FROM AUTHOR]

Published
2023
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240. Young-onset CJD: age and disease phenotype in variant and sporadic forms

Author

Corato, Manuel, Cereda, Cristina, Cova, Emanuela, Ferrarese, Carlo, MAURO CERONI, Corato, M, Cereda, C, Cova, E, Ferrarese, C, and Ceroni, M

Subjects
Creutzfeldt-Jakob disease
Abstract

Since 1996, there have been over 140 reports of a Creutzfeldt-Jakob disease variant (vCJD), with a striking prevalence of these cases in the UK. The main peculiarity of vCJD is its onset in young people, but other features also distinguish it from sporadic CJD. Despite epidemiological data suggesting a link with bovine spongiform encephalopathy, the origin of vCJD is not completely understood. We hypothesized that the onset of vCJD at a young age might contribute to the disease phenotype. We searched the Medline/PubMed database for all case reports of CJD in the under-30s and selected 20 sporadic CJD patients with a median age at onset of 25.5 years. Our series displays a long disease duration and other vCJD-like features, suggesting that CJD in young people is different from classic CJD and that the vCJD phenotype may be partly related to young age.

Published
2006

241. De novo exonic duplication of ATP1A2 in Italian patient with hemiplegic migraine: a case report.

Author

Gagliardi, Stella, Grieco, Gaetano, Gualandi, Francesca, Caniatti, Luisa, Groppo, Elisabetta, Valente, Marialuisa, Giuseppe, Nappi, Neri, Marcella, and Cereda, Cristina

Subjects
GENEALOGY, GENETIC techniques, HEMIPLEGIA, MIGRAINE, GENETIC mutation, PHENOTYPES
Abstract

Background: Sporadic Hemiplegic Migraine is a rare form of migraine headache. Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder. Here, we described a de novo exonic duplication of ATP1A2 in an Italian patient with Hemiplegic Migraine. Case presentation: We describe the case of a young woman (33 year old) who suffered from the age of 8 years of episodic weakness of the limbs, associated to other subjective and objective features. From aged 25, she developed neurological symptoms, like dizziness, blurred vision and an MRI scan revealed aspecific peritrigonal white matter hyperintensities. Aged 32 she suffered of right hemisomatic sudden-onset paresthesias, hypoesthesia and hyposthenia and the patient was genetically investigated for sporadic hemiplegic migraine. Conclusions: Here we report, for the first time, an exonic duplication in the ATP1A2 associated with hemiplegic migraine. The variation identified involves exon 21 of the ATP1A2 and is expected to alter the function of the alpha(2) subunit of the Na(+)/K(+) pump; the de novo nature of the duplication further supports its pathogenic role. To date, no other CNVs have been described in the ATP1A2 but only point mutations are reported. The novel mutation may result impaired M9 transmembrane domain, in a loss-of-function of the alpha(2) Na(+)/K(+)-ATPase with glutamate accumulation, alteration of synaptic function and neurotransmission. [ABSTRACT FROM AUTHOR]

Published
2017
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243. A Novel Nonsense Angiogenin Mutation is Associated With Alzheimer Disease.

Author

Gagliardi, Stella, Davin, Annalisa, Bini, Paola, Sinforiani, Elena, Poloni, Tino E., Polito, Letizia, Rivoiro, Chiara, Binetti, Giuliano, Paterlini, Anna, Benussi, Luisa, Ghidoni, Roberta, Vanacore, Nicola, and Cereda, Cristina

Abstract

Highlights from the article: Mutations in the coding region of ANG have been detected in neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD)[5] but no mutation has been described in AD. We screened a large cohort of Italian AD patients and healthy controls to identify mutations in the I ANG i gene. This new mutation has been found in 2 AD patients (0.20% the whole AD cohort): The first patient (patient 1) is the proband of pedigree FAM84 (Fig. 1B). We found a novel a nonsense mutation in the I ANG i gene in heterozygosis in position g.2162012 causing the change of a lysine to a Stop codon (K73X) in 2 AD patients (0.20%).

Published
2019
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245. Prevention of Lymphocyte Neurotoxic Effects by microRNA Delivery

Author

Pulliero, Alessandra, primary, Marengo, Barbara, additional, Fenoglio, Daniela, additional, Parodi, Alessia, additional, Cereda, Cristina, additional, Domenicotti, Cinzia, additional, Orcesi, Simona, additional, Galli, Jessica, additional, Olivieri, Ivana, additional, Filaci, Gilberto, additional, Balottin, Umberto, additional, Fazzi, Elisa, additional, and Izzotti, Alberto, additional

Published
2014
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246. The absence that makes the difference: choroidal abnormalities in Legius syndrome

Author

Tucci, Arianna, Saletti, Veronica, Menni, Francesca, Cesaretti, Claudia, Scuvera, Giulietta, Esposito, Silvia, Melloni, Giulia, Esposito, Susanna, Milani, Donatella, Cereda, Cristina, Cigada, Mario, Tresoldi, Laura, Viola, Francesco, and Natacci, Federica

Abstract

Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. Choroidal involvement in NF1 patients has been studied, thanks to the development of non-invasive tools such as infrared monochromatic light during fundus examination, which showed bright patchy lesions consistent with choroidal nodules. Choroidal abnormalities identified with near-infrared reflectance have reported with a frequency of up to 100% in NF1, and have been recently been proposed as a novel diagnostic criterion for NF1. Legius syndrome can be clinically indistinguishable from NF1 and results in a small percentage of individuals being misdiagnosed. We investigated the presence of choroidal abnormalities in Legius syndrome to determine their specificity to NF1 and their potential usefulness as a novel diagnostic criterion for NF1. We examined the fundus of 16 eyes by confocal scanning laser ophthalmoscopy with infrared monochromatic light in eight patients with molecularly confirmed Legius syndrome. No abnormalities were observed, confirming the diagnostic value of choroidal abnormalities for the diagnosis of NF1.

Published
2017
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247. C9ORF72 Hexanucleotide Repeat Number in Frontotemporal Lobar Degeneration: A Genotype-Phenotype Correlation Study

Author

Benussi, Luisa, primary, Rossi, Giacomina, additional, Glionna, Michela, additional, Tonoli, Elisa, additional, Piccoli, Elena, additional, Fostinelli, Silvia, additional, Paterlini, Anna, additional, Flocco, Rosa, additional, Albani, Diego, additional, Pantieri, Roberta, additional, Cereda, Cristina, additional, Forloni, Gianluigi, additional, Tagliavini, Fabrizio, additional, Binetti, Giuliano, additional, and Ghidoni, Roberta, additional

Published
2013
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248. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Author

Rice, Gillian I, primary, Forte, Gabriella M A, additional, Szynkiewicz, Marcin, additional, Chase, Diana S, additional, Aeby, Alec, additional, Abdel-Hamid, Mohamed S, additional, Ackroyd, Sam, additional, Allcock, Rebecca, additional, Bailey, Kathryn M, additional, Balottin, Umberto, additional, Barnerias, Christine, additional, Bernard, Genevieve, additional, Bodemer, Christine, additional, Botella, Maria P, additional, Cereda, Cristina, additional, Chandler, Kate E, additional, Dabydeen, Lyvia, additional, Dale, Russell C, additional, De Laet, Corinne, additional, De Goede, Christian G E L, additional, del Toro, Mireia, additional, Effat, Laila, additional, Enamorado, Noemi Nunez, additional, Fazzi, Elisa, additional, Gener, Blanca, additional, Haldre, Madli, additional, Lin, Jean-Pierre S-M, additional, Livingston, John H, additional, Lourenco, Charles Marques, additional, Marques, Wilson, additional, Oades, Patrick, additional, Peterson, Pärt, additional, Rasmussen, Magnhild, additional, Roubertie, Agathe, additional, Schmidt, Johanna Loewenstein, additional, Shalev, Stavit A, additional, Simon, Rogelio, additional, Spiegel, Ronen, additional, Swoboda, Kathryn J, additional, Temtamy, Samia A, additional, Vassallo, Grace, additional, Vilain, Catheline N, additional, Vogt, Julie, additional, Wermenbol, Vanessa, additional, Whitehouse, William P, additional, Soler, Doriette, additional, Olivieri, Ivana, additional, Orcesi, Simona, additional, Aglan, Mona S, additional, Zaki, Maha S, additional, Abdel-Salam, Ghada M H, additional, Vanderver, Adeline, additional, Kisand, Kai, additional, Rozenberg, Flore, additional, Lebon, Pierre, additional, and Crow, Yanick J, additional

Published
2013
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249. Posttranscriptional regulation of SOD1 gene expression under oxidative stress: Potential role of ELAV proteins in sporadic ALS

Author

Milani, Pamela, primary, Amadio, Marialaura, additional, Laforenza, Umberto, additional, Dell'Orco, Michela, additional, Diamanti, Luca, additional, Sardone, Valentina, additional, Gagliardi, Stella, additional, Govoni, Stefano, additional, Ceroni, Mauro, additional, Pascale, Alessia, additional, and Cereda, Cristina, additional

Published
2013
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250. Altered Intracellular Localization of SOD1 in Leukocytes from Patients with Sporadic Amyotrophic Lateral Sclerosis

Author

Cereda, Cristina, primary, Leoni, Emanuela, additional, Milani, Pamela, additional, Pansarasa, Orietta, additional, Mazzini, Giuliano, additional, Guareschi, Stefania, additional, Alvisi, Elena, additional, Ghiroldi, Andrea, additional, Diamanti, Luca, additional, Bernuzzi, Stefano, additional, Ceroni, Mauro, additional, and Cova, Emanuela, additional

Published
2013
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