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14 results on '"Pérez‐Oliveira, Sergio"'

1. Smoking is associated with age at disease onset in Parkinson's disease

Author

Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, de Fabregues, Oriol, Cartagena, Pilar Sanz, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández-Santiago, Rubén, Fernández, Manel, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain, Adolfo, Macias-Garcia, Daniel, Martínez-Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Álvarez-Santullano, Marina Mata, Mínguez-Castellanos, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán, Maria Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Tabernero, Cesar, Tartari, Juan Pablo, Tolosa, Eduard, Valldeoriola, Francesc, Vela, Lydia, Vives, Francisco, Pascual-Sedano, Berta, Hernández-Vara, Jorge, Rolán, Dolores Vilas, Bandrés-Ciga, Sara, Rosas, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Herrera, Israel Duarte, Pérez-Oliveira, Sergio, Álvarez, Victoria, and Menéndez-González, Manuel

Published
2022
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2. Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.

Author

Pérez‐Oliveira, Sergio, Castilla‐Silgado, Juan, Painous, Cèlia, Aldecoa, Iban, Menéndez‐González, Manuel, Blázquez‐Estrada, Marta, Corte, Daniela, Tomás‐Zapico, Cristina, Compta, Yaroslau, Muñoz, Esteban, Lladó, Albert, Balasa, Mircea, Aragonès, Gemma, García‐González, Pablo, Rosende‐Roca, Maitée, Boada, Mercè, Ruíz, Agustín, Pastor, Pau, De la Casa‐Fages, Beatriz, and Rabano, Alberto

Subjects
*TAUOPATHIES, *PROGRESSIVE supranuclear palsy, *ALZHEIMER'S disease, *HUNTINGTON disease, *NEURODEGENERATION
Abstract

Previous studies have suggested a relationship between the number of CAG triplet repeats in the HTT gene and neurodegenerative diseases not related to Huntington's disease (HD). This study seeks to investigate whether the number of CAG repeats of HTT is associated with the risk of developing certain tauopathies and its influence as a modulator of the clinical and neuropathological phenotype. Additionally, it aims to evaluate the potential of polyglutamine staining as a neuropathological screening. We genotyped the HTT gene CAG repeat number and APOE‐ℰ isoforms in a cohort of patients with neuropathological diagnoses of tauopathies (n=588), including 34 corticobasal degeneration (CBD), 98 progressive supranuclear palsy (PSP) and 456 Alzheimer's disease (AD). Furthermore, we genotyped a control group of 1070 patients, of whom 44 were neuropathologic controls. We identified significant differences in the number of patients with pathological HTT expansions in the CBD group (2.7%) and PSP group (3.2%) compared to control subjects (0.2%). A significant increase in the size of the HTT CAG repeats was found in the AD compared to the control group, influenced by the presence of the Apoliprotein E (APOE)‐ℰ4 isoform. Post‐mortem assessments uncovered tauopathy pathology with positive polyglutamine aggregates, with a slight predominance in the neostriatum for PSP and CBD cases and somewhat greater limbic involvement in the AD case. Our results indicated a link between HTT CAG repeat expansion with other non‐HD pathology, suggesting they could share common neurodegenerative pathways. These findings support that genetic or histological screening for HTT repeat expansions should be considered in tauopathies. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Late Breaking Abstract - Transcriptome profiling of persistent ICU-acquired weakness in a cohort of ARDS survivors

Author

Duarte Herrera, Israel David, primary, Miravete-Lagunes, Karla, additional, López-Martínez, Cecilia, additional, Exojo-Ramírez, Sara M, additional, Martín-Vicente, Paula, additional, González Iglesias, Marcelino, additional, Rodríguez García, Raquel, additional, García De Alaiz, Ana, additional, Fernández-Rodríguez, Margarita, additional, Cuesta-Llavona, Elías, additional, Pérez-Oliveira, Sergio, additional, Gómez De Oña, Juan, additional, Coto, Eliecer, additional, López-Alonso, Inés, additional, Parra-Ruiz, Diego, additional, M Albaiceta, Guillermo, additional, and Amado-Rodríguez, Laura, additional

Published
2023
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5. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

Author

Rosas, Irene, Martínez, Carmen, Coto, Eliecer, Clarimón, Jordi, Lleó, Alberto, Illán-Gala, Ignacio, Dols-Icardo, Oriol, Borroni, Barbara, Almeida, Maria Rosário, van der Zee, Julie, Van Broeckhoven, Christine, Bruni, Amalia C., Anfossi, Maria, Bernardi, Livia, Maletta, Raffaele, Serpente, María, Galimberti, Daniela, Scarpini, Elio, Rossi, Giacomina, Caroppo, Paola, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, Nacmias, Benedetta, Sorbi, Sandro, Piaceri, Irene, Bagnoli, Silvia, Antonell, Anna, Sánchez-Valle, Raquel, De la Casa-Fages, Beatriz, Grandas, Francisco, Diez-Fairen, Mónica, Pastor, Pau, Ferrari, Raffaele, Queimaliños-Perez, Daniel, Pérez-Oliveira, Sergio, Álvarez, Victoria, and Menéndez-González, Manuel

Published
2021
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6. Intermediate and ExpandedHTTAlleles and the Risk for α‐Synucleinopathies

Author

Pérez‐Oliveira, Sergio, primary, Álvarez, Ignacio, additional, Rosas, Irene, additional, Menendez‐González, Manuel, additional, Blázquez‐Estrada, Marta, additional, Aguilar, Miquel, additional, Corte, Daniela, additional, Buongiorno, Mariateresa, additional, Molina‐Porcel, Laura, additional, Aldecoa, Iban, additional, Martí, María J., additional, Sánchez‐Juan, Pascual, additional, Infante, Jon, additional, González‐Aramburu, Isabel, additional, García‐González, Pablo, additional, Rosende‐Roca, Maitée, additional, Boada, Mercè, additional, Ruiz, Agustín, additional, Periñán, María Teresa, additional, Macías‐García, Daniel, additional, Muñoz‐Delgado, Laura, additional, Gómez‐Garre, Pilar, additional, Mir, Pablo, additional, Clarimón, Jordi, additional, Lleo, Alberto, additional, Alcolea, Daniel, additional, De la Casa‐Fages, Beatriz, additional, Duarte, Israel, additional, Álvarez, Victoria, additional, and Pastor, Pau, additional

Published
2022
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7. Smoking is associated with age at disease onset in Parkinson's disease

Author

Fundación José Luis Castaño, Obra Social Cajastur, European Commission, Asociación Parkinson Asturias, Pérez de la Rosa, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Duarte, Israel, Pérez-Oliveira, Sergio, Álvarez, Victoria, Menéndez-González, Manuel, Fundación José Luis Castaño, Obra Social Cajastur, European Commission, Asociación Parkinson Asturias, Pérez de la Rosa, Irene, Morís, Germán, Coto, Eliecer, Blázquez-Estrada, Marta, Suárez, Esther, García-Fernández, Ciara, Martínez, Carmen, Duarte, Israel, Pérez-Oliveira, Sergio, Álvarez, Victoria, and Menéndez-González, Manuel

Abstract

[Background] Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients., [Objective] The aim of this study was to assess how genetic and non genetic factors act as modifiers of age at onset and survival and in a cohort of 753 PD patients, and to determine how these variables interact to define the overall risk., [Methods] We analyzed the effect of gender, tobacco, alcohol, type of PD (genetic, gPD or idiopathic, iPD) and three genetic variants rs5848- GRN, rs1042522- TP53 and APOE. We studied two cohorts (PPMI and IPDGC) to replicate positive results., [Results] Regarding age at onset, male smokers PD had a significantly lower mean age compared to non-smoker (p = 0.001). APOE-Ɛ4 carriers had a younger onset-age compared to non-carriers (p = 0.03) in the Spanish cohort, but these results were not replicated in the other cohorts. Concerning survival, PD patients with an early onset (below 50 years) had an increased survival rate (p < 0.001)., [Conclusions] Our study showed how several genetic and non-genetic risk factors influenced the age at onset and survival in PD.

Published
2022

8. Association of the Genetic Variation in the Long Non-Coding RNA FENDRR with the Risk of Developing Hypertrophic Cardiomyopathy

Author

Cuesta-Llavona, Elías, primary, Lorca, Rebeca, additional, Rolle, Valeria, additional, Alonso, Belén, additional, Iglesias, Sara, additional, Rodríguez-Reguero, Julian, additional, Duarte-Herrera, Israel David, additional, Pérez-Oliveira, Sergio, additional, Junco-Vicente, Alejandro, additional, Lago, Claudia García, additional, Coto, Eliecer, additional, and Gómez, Juan, additional

Published
2022
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9. FURIN gene variants (rs6224/rs4702) as potential markers of death and cardiovascular traits in severe COVID‐19

Author

Coto, Eliecer, primary, Albaiceta, Guillermo M., additional, Amado‐Rodríguez, Laura, additional, García‐Clemente, Marta, additional, Cuesta‐Llavona, Elías, additional, Vázquez‐Coto, Daniel, additional, Alonso, Belén, additional, Iglesias, Sara, additional, Melón, Santiago, additional, Alvarez‐Argüelles, Marta E., additional, Boga, José A., additional, Rojo‐Alba, Susana, additional, Pérez‐Oliveira, Sergio, additional, Alvarez, Victoria, additional, and Gómez, Juan, additional

Published
2022
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10. Smoking is associated with age at disease onset in Parkinson's disease

Author

Rosas, Irene, primary, Morís, Germán, additional, Coto, Eliecer, additional, Blázquez-Estrada, Marta, additional, Suárez, Esther, additional, García-Fernández, Ciara, additional, Martínez, Carmen, additional, Herrera, Israel Duarte, additional, Pérez-Oliveira, Sergio, additional, Álvarez, Victoria, additional, Menéndez-González, Manuel, additional, Adarmes-Gómez, Astrid D., additional, Aguilar, Miquel, additional, Alvarez, Ignacio, additional, Barrero, Francisco Javier, additional, Bergareche Yarza, Jesús Alberto, additional, Bonilla-Toribio, Marta, additional, Botía, Juan A., additional, Boungiorno, María Teresa, additional, Buiza-Rueda, Dolores, additional, Cámara, Ana, additional, Carrillo, Fátima, additional, Cerdan, Debora, additional, Clarimón, Jordi, additional, Compta, Yaroslau, additional, Diez-Fairen, Monica, additional, Dols-Icardo, Oriol, additional, de Fabregues, Oriol, additional, Cartagena, Pilar Sanz, additional, Duarte, Jacinto, additional, Duran, Raquel, additional, Escamilla-Sevilla, Francisco, additional, Ezquerra, Mario, additional, Feliz, Cici, additional, Fernández-Santiago, Rubén, additional, Fernández, Manel, additional, García-Ruiz, Pedro, additional, Gómez-Garre, Pilar, additional, Gomez Heredia, Maria Jose, additional, Gonzalez-Aramburu, Isabel, additional, Gorostidi, Ana, additional, Hoenicka, Janet, additional, Infante, Jon, additional, Jesús, Silvia, additional, Jimenez-Escrig, Adriano, additional, Kulisevsky, Jaime, additional, Labrador-Espinosa, Miguel A., additional, Lopez-Sendon, Jose Luis, additional, López de Munain, Adolfo, additional, Macias-Garcia, Daniel, additional, Martínez-Torres, Irene, additional, Marín, Juan, additional, Marti, Maria Jose, additional, Martínez-Castrillo, Juan Carlos, additional, Álvarez-Santullano, Marina Mata, additional, Mínguez-Castellanos, Adolfo, additional, Mir, Pablo, additional, Rezola, Elisabet Mondragon, additional, Muñoz, Esteban, additional, Pagonabarraga, Javier, additional, Pastor, Pau, additional, Errazquin, Francisco Perez, additional, Periñán, Maria Teresa, additional, Ruiz-Martínez, Javier, additional, Ruz, Clara, additional, Rodriguez, Antonio Sanchez, additional, Sierra, María, additional, Tabernero, Cesar, additional, Tartari, Juan Pablo, additional, Tolosa, Eduard, additional, Valldeoriola, Francesc, additional, Vela, Lydia, additional, Vives, Francisco, additional, Pascual-Sedano, Berta, additional, Hernández-Vara, Jorge, additional, Rolán, Dolores Vilas, additional, and Bandrés-Ciga, Sara, additional

Published
2022
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11. Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

Author

Cuesta-Llavona, Elías, Gómez, Juan, Albaiceta, Guillermo M., Amado-Rodríguez, Laura, García-Clemente, Marta, Gutiérrez-Rodríguez, José, López-Alonso, Inés, Hermida, Tamara, Enríquez, Ana I., Hernández-González, Cristina, Gil-Peña, Helena, Domínguez-Garrido, Elena, Pérez-Oliveira, Sergio, Alvarez, Victoria, López-Larrea, Carlos, Suarez-Alvarez, Beatriz, Tranche, Salvador, Jimeno-Demuth, Francisco J., and Coto, Eliecer

Published
2021
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12. Cancer in Parkinson Disease: an approximation to the main risk factors

Author

Rosas, Irene, primary, Morís, Germán, additional, Coto, Eliecer, additional, Blázquez, Marta, additional, Suárez, Esther, additional, García-Fernández, Ciara, additional, Siso, Pablo, additional, Martínez, Carmen, additional, Pérez-Oliveira, Sergio, additional, Álvarez, Victoria, additional, and Menéndez-González, Manuel, additional

Published
2021
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14. Intermediate and Expanded HTT Alleles and the Risk for α-Synucleinopathies.

Author

Pérez‐Oliveira, Sergio, Álvarez, Ignacio, Rosas, Irene, Menendez‐González, Manuel, Blázquez‐Estrada, Marta, Aguilar, Miquel, Corte, Daniela, Buongiorno, Mariateresa, Molina‐Porcel, Laura, Aldecoa, Iban, Martí, María J., Sánchez‐Juan, Pascual, Infante, Jon, González‐Aramburu, Isabel, García‐González, Pablo, Rosende‐Roca, Maitée, Boada, Mercè, Ruiz, Agustín, Periñán, María Teresa, and Macías‐García, Daniel

Subjects
*DNA, *ALLELES, *PARKINSON'S disease, *RESEARCH funding, *HUNTINGTON disease, *NEURODEGENERATION
Abstract

Background: Previous studies suggest a link between CAG repeat number in the HTT gene and non-Huntington neurodegenerative diseases.Objective: The aim is to analyze whether expanded HTT CAG alleles and/or their size are associated with the risk for developing α-synucleinopathies or their behavior as modulators of the phenotype.Methods: We genotyped the HTT gene CAG repeat number and APOE-Ɛ isoforms in a case-control series including patients with either clinical or neuropathological diagnosis of α-synucleinopathy.Results: We identified three Parkinson's disease (PD) patients (0.30%) and two healthy controls (0.19%) carrying low-penetrance HTT repeat expansions whereas none of the dementia with Lewy bodies (DLB) or multisystem atrophy (MSA) patients carried pathogenic HTT expansions. In addition, a clear increase in the number of HTT CAG repeats was found among DLB and PD groups influenced by the male gender and also by the APOE4 allele among DLB patients. HTT intermediate alleles' (IAs) distribution frequency increased in the MSA group compared with controls (8.8% vs. 3.9%, respectively). These differences were indeed statistically significant in the MSA group with neuropathological confirmation. Two MSA HTT CAG IAs carriers with 32 HTT CAG repeats showed isolated polyQ inclusions in pons and basal nuclei, which are two critical structures in the neurodegeneration of MSA.Conclusions: Our results point to a link between HTT CAG number, HTT IAs, and expanded HTT CAG repeats with other non-HD brain pathology and support the hypothesis that they can share common neurodegenerative pathways. © 2022 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2022
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