Search Results - "Dalmasso, María Carolina"

Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease by Muchnik, Carolina, Olivar, Natividad, Dalmasso, María Carolina, Azurmendi, Pablo Javier, Liberczuk, Cynthia, Morelli, Laura, Brusco, Luis Ignacio

“…Abstract Presenilin 2 gene ( PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence…”
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The first genome‐wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease by Dalmasso, Maria Carolina, Rojas, Itziar, Olivar, Natividad, Muchnik, Carolina, Angel, Bárbara, Gloger, Sergio, Sanchez Abalos, Mariana Soledad, Chacón, María Victoria, Aránguiz, Rafael, Orellana, Paulina, Cuesta, Carolina, Galeano, Pablo, Campanelli, Lorenzo, Novack, Gisela Vanina, Martinez, Luis Eduardo, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Irureta, Nicolás, Castaño, Eduardo Miguel, Montrreal, Laura, Thoenes, Michaela, Hanses, Claudia, Heilmann‐Heimbach, Stefanie, Kairiyama, Claudia, Mintz, Inés, Villella, Ivana, Rueda, Fabiana, Romero, Amanda, Wukitsevits, Nancy, Quiroga, Ivana, Gona, Cristian, Lambert, Jean‐Charles, Solis, Patricia, Politis, Daniel Gustavo, Mangone, Carlos Alberto, Gonzalez‐Billault, Christian, Boada, Mercè, Tàrraga, Lluís, Slachevsky, Andrea, Albala, Cecilia, Fuentes, Patricio, Kochen, Silvia, Brusco, Luis Ignacio, Ruiz, Agustín, Morelli, Laura, Ramírez, Alfredo

“…INTRODUCTION Genome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other…”
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Canonical and variant histones of protozoan parasites by Dalmasso, Maria Carolina, Sullivan, Jr, William Joseph, Angel, Sergio Oscar

“…Protozoan parasites have tremendously diverse lifestyles that require adaptation to a remarkable assortment of different environmental conditions. In order to…”
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Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations by Horimoto, Andrea R.V.R., Boyken, Lisa A., Blue, Elizabeth E., Grinde, Kelsey E., Nafikov, Rafael A., Sohi, Harkirat K., Nato, Alejandro Q., Bis, Joshua C., Brusco, Luis I., Morelli, Laura, Ramirez, Alfredo, Dalmasso, Maria Carolina, Temple, Seth, Satizabal, Claudia, Browning, Sharon R., Seshadri, Sudha, Wijsman, Ellen M., Thornton, Timothy A.

“…Alzheimer disease (AD) is the most common form of senile dementia, with high incidence late in life in many populations including Caribbean Hispanic (CH)…”
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Alzheimer’s disease genetic risk score and neuroimaging biomarkers in the FINGER multidomain lifestyle randomized controlled trial by Hossain, Gazi Saadmaan, Dalmasso, Maria Carolina, Ramirez, Alfredo, Hiltunen, Mikko, Kemppainen, Nina, Lehtisalo, Jenni, Ngandu, Tiia, Rinne, Juha O., Soininen, Hilkka, Stephen, Ruth, Kivipelto, Miia, Solomon, Alina

“…Background A comprehensive genetic risk score (GRS) for Alzheimer’s disease (AD‐GRS) was recently developed based on 83 genome‐wide significant variants…”
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Matrix metalloproteinase 10 is linked to the risk of progression to dementia of the Alzheimer's type by Martino Adami, Pamela V, Orellana, Adelina, García, Pablo, Kleineidam, Luca, Alarcón-Martín, Emilio, Montrreal, Laura, Aguilera, Nuria, Espinosa, Ana, Abdelnour, Carla, Rosende-Roca, Maitee, Tartari, Juan Pablo, Vargas, Liliana, Mauleón, Ana, Esteban-De Antonio, Ester, López-Cuevas, Rogelio, Dalmasso, Maria Carolina, Martin, Rafael Campos, Parveen, Kayenat, Andrade Fuentes, Victor M, Amin, Najaf, Ahmad, Shahzad, Ikram, M Arfan, Lewczuk, Piotr, Kornhuber, Johannes, Peters, Oliver, Frölich, Lutz, Rüther, Eckart, Wiltfang, Jens, Tarraga, Lluis, Boada, Merce, Maier, Wolfgang, de Rojas, Itziar, Cano, Amanda, Sanabria, Angela, Alegret, Montserrat, Hernández, Isabel, Marquié, Marta, Valero, Sergi, van Duijn, Cornelia M, Wagner, Michael, Jessen, Frank, Schneider, Anja, Sáez Goñi, María Eugenia, Pérez, Antonio González, Ruiz, Agustín, Ramírez, Alfredo

“…Alzheimer's disease has a long asymptomatic phase that offers a substantial time window for intervention. Utilizing this window of opportunity will require…”
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Alzheimer's disease genetic risk score and neuroimaging in the FINGER lifestyle trial by Saadmaan, Gazi, Dalmasso, Maria Carolina, Ramirez, Alfredo, Hiltunen, Mikko, Kemppainen, Nina, Lehtisalo, Jenni, Mangialasche, Francesca, Ngandu, Tiia, Rinne, Juha, Soininen, Hilkka, Stephen, Ruth, Kivipelto, Miia, Solomon, Alina

“…INTRODUCTION We assessed a genetic risk score for Alzheimer's disease (AD‐GRS) and apolipoprotein E (APOE4) in an exploratory neuroimaging substudy of the…”
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First genome‐wide association study on Alzheimer’s disease in the Argentinian and the Chilean populations by Dalmasso, Maria Carolina, de Rojas, Itziar, Olivar, Natividad, Muchnik, Carolina, Angel, Bárbara, Gogler, Sergio, Sanchez‐Avalos, Mariana S, Chacon, Maria Victoria, Aránguiz, Rafael, Orellana, Paulina, Cuesta, Carolina, Galeano, Pablo, Campanelli, Lorenzo, Novack, Gisella V, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Irureta, Nicolas, Castaño, Eduardo M, Montrreal, Laura, Heilmann‐Heimbach, Stefanie, Mintz, Ines, Villella, Ivana, Lambert, Jean‐Charles, Solis, Patricia, Politis, Daniel, Mangone, Carlos A, Gonzalez‐Billault, Christian, Boada, Mercè, Tárraga, Lluís, Slachevsky, Andrea, Albala, Cecilia, Fuentes, Patricio, Kochen, Silvia, Brusco, Luis Ignacio, Ruiz, Agustin, Morelli, Laura, Ramirez, Alfredo

“…Background Genome‐wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other…”
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A GENERIC LATENT VARIABLE APPROACH FOR MEASURING COGNITIVE RESERVE: PHENOTYPE VALIDATION AND GENETIC ASSOCIATION RESULTS by Kleineidam, Luca, Wolfsgruber, Steffen, Dalmasso, Maria Carolina, Peters, Oliver, Frölich, Lutz, Wiltfang, Jens, Kornhuber, Johannes, Maier, Wolfgang, Okonkwo, Ozioma C., Ramirez, Alfredo, Wagner, Michael

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P1‐140: A GENERIC LATENT VARIABLE APPROACH FOR MEASURING COGNITIVE RESERVE: PHENOTYPE VALIDATION AND GENETIC ASSOCIATION RESULTS by Kleineidam, Luca, Wolfsgruber, Steffen, Dalmasso, Maria Carolina, Peters, Oliver, Frölich, Lutz, Wiltfang, Jens, Kornhuber, Johannes, Maier, Wolfgang, Okonkwo, Ozioma C., Ramirez, Alfredo, Wagner, Michael

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Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer’s disease by Dalmasso, Maria Carolina, Brusco, Luis Ignacio, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Heilmann-Heimbach, Stefanie, Hoffmann, Per, Prestia, Federico A., Galeano, Pablo, Avalos, Mariana Soledad Sanchez, Martinez, Luis Eduardo, Carulla, Mariana Estela, Azurmendi, Pablo Javier, Liberczuk, Cynthia, Fezza, Cristina, Sampaño, Marcelo, Fierens, Maria, Jemar, Guillermo, Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Bosco, Paolo, Bossù, Paola, Spalletta, Gianfranco, Galimberti, Daniela, Mancuso, Michelangelo, Nacmias, Benedetta, Sorbi, Sandro, Mecocci, Patrizia, Pilotto, Alberto, Caffarra, Paolo, Panza, Francesco, Bullido, Maria, Clarimon, Jordi, Sánchez-Juan, Pascual, Coto, Eliecer, Sanchez-Garcia, Florentino, Graff, Caroline, Ingelsson, Martin, Bellenguez, Céline, Castaño, Eduardo Miguel, Kairiyama, Claudia, Politis, Daniel Gustavo, Kochen, Silvia, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Mangone, Carlos Alberto, Lambert, Jean-Charles, Morelli, Laura, Ramirez, Alfredo

“…Rare coding variants in TREM2 , PLCG2 , and ABI3 were recently associated with the susceptibility to Alzheimer’s disease (AD) in Caucasians. Frequencies and…”
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Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP): Genetics: Genetics and omics of AD II by Naj, Adam C., Sha, Jin, Zhao, Yi, Leonenko, Ganna, Jian, Xueqiu, Grenier‐Boley, Benjamin, Dalmasso, Maria Carolina, van der Lee, Sven J., Sims, Rebecca, Chouraki, Vincent, Bis, Josh C., Kuzma, Amanda B., Kunkle, Brian W., Karamujić‐Čomić, Hata, Pitsillides, Achilleas N., Xia, Rui, Fulton‐Howard, Brian, Holmans, Peter, Dupuis, Josée, Wang, Li‐San, Farrer, Lindsay A., van Duijn, Cornelia M., Haines, Jonathan L., Destefano, Anita L., Pericak‐Vance, Margaret A., Ramirez, Alfredo, Amouyel, Philippe, Lambert, Jean‐Charles, Seshadri, Sudha, Williams, Julie, Schellenberg, Gerard D.

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Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (IGAP) by Naj, Adam C., Sha, Jin, Zhao, Yi, Leonenko, Ganna, Jian, Xueqiu, Grenier‐Boley, Benjamin, Dalmasso, Maria Carolina, van der Lee, Sven J., Sims, Rebecca, Chouraki, Vincent, Bis, Josh C., Kuzma, Amanda B., Kunkle, Brian W., Karamujić‐Čomić, Hata, Pitsillides, Achilleas N., Xia, Rui, Fulton‐Howard, Brian, Holmans, Peter, Dupuis, Josée, Wang, Li‐San, Farrer, Lindsay A., van Duijn, Cornelia M., Haines, Jonathan L., Destefano, Anita L., Pericak‐Vance, Margaret A., Ramirez, Alfredo, Amouyel, Philippe, Lambert, Jean‐Charles, Seshadri, Sudha, Williams, Julie, Schellenberg, Gerard D.

“…Background Recent meta‐analyses of genome‐wide association studies (GWAS) have identified ∼30 susceptibility LOAD loci in addition to APOE, however the…”
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P1‐159: RARE VARIANTS IN PLCG2, ABI3, AND TREM2 GENES ARE ASSOCIATED WITH ALZHEIMER'S DISEASE IN AN ARGENTINIAN SAMPLE: IS IT A EUROPEAN HERITAGE? by Dalmasso, Maria Carolina, Brusco, Ignacio, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Prestia, Federico A., Galeano, Pablo, Carulla, Mariana E., Azurmendi, Pablo J., Liberczuk, Cynthia, Fezza, Cristina, Sampaño, Marcelo, Fierens, Maria, Jemar, Guillermo, Sanchez-Avalos, Mariana S., Martinez, Luis E., Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Behrens, Maria I., Diaz-Grez, Fernando, Castaño, Eduardo M., Kairiyama, Claudia, Politis, Gustavo D., Kochen, Silvia, Segura-Aguilar, Juan, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Mangone, Carlos A., Morelli, Laura, Ramirez, Alfredo

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RARE VARIANTS IN PLCG2, ABI3, AND TREM2 GENES ARE ASSOCIATED WITH ALZHEIMER’S DISEASE IN AN ARGENTINIAN SAMPLE: IS IT A EUROPEAN HERITAGE? by Dalmasso, Maria Carolina, Brusco, Ignacio, Olivar, Natividad, Muchnik, Carolina, Hanses, Claudia, Milz, Esther, Becker, Julian, Prestia, Federico A., Galeano, Pablo, Carulla, Mariana E., Azurmendi, Pablo J., Liberczuk, Cynthia, Fezza, Cristina, Sampaño, Marcelo, Fierens, Maria, Jemar, Guillermo, Sanchez-Avalos, Mariana S., Martinez, Luis E., Solis, Patricia, Medel, Nancy, Lisso, Julieta, Sevillano, Zulma, Behrens, Maria I., Diaz-Grez, Fernando, Castaño, Eduardo M., Kairiyama, Claudia, Politis, Gustavo D., Kochen, Silvia, Segura-Aguilar, Juan, Scaro, Horacio, Maier, Wolfgang, Jessen, Frank, Mangone, Carlos A., Morelli, Laura, Ramirez, Alfredo

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A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE by Van der Lee, Sven J., Jansen, Iris E., Pletnikova, Olga, Blauwendraat, Cornelis, Hulsman, Marc, Dalmasso, Maria Carolina, Kawalia, Amit, Ramirez, Alfredo, Van der Flier, Wiesje M., Scheltens, Philip, Reinders, Marcel JT, Hernandez, Isabel, Lleó, Alberto, Fortea, Juan, Stringa, Najada, Ruiz, Agustín Ruiz, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Clarimon, Jordi, Lage, Carmen, van den Akker, Erik, Rodríguez, Eloy Rodríguez, Sánchez-Juan, Pascual, Pijnenburg, Yolande A.L., van Schoor, Natasja, Simon-Sanchez, Javier, Lemstra, Afina W., Heutink, Peter, Scholz, Sonja, Huisman, Martijn, Slagboom, Eline, Holstege, Henne

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O5‐04‐01: A RARE GENETIC VARIANT IN THE PLCG2 GENE IS ASSOCIATED WITH A REDUCED RISK OF ALL MAJOR TYPES OF DEMENTIA AND AN INCREASED RISK TO REACH AN EXTREMELY OLD AGE by Lee, Sven J., Jansen, Iris E., Pletnikova, Olga, Blauwendraat, Cornelis, Hulsman, Marc, Dalmasso, Maria Carolina, Kawalia, Amit, Ramirez, Alfredo, Flier, Wiesje M., Scheltens, Philip, Reinders, Marcel JT, Hernandez, Isabel, Lleó, Alberto, Fortea, Juan, Stringa, Najada, Ruiz, Agustín Ruiz, Illán-Gala, Ignacio, Morenas-Rodríguez, Estrella, Clarimon, Jordi, Lage, Carmen, Akker, Erik, Rodríguez, Eloy Rodríguez, Sánchez-Juan, Pascual, Pijnenburg, Yolande A.L., Schoor, Natasja, Simon-Sanchez, Javier, Lemstra, Afina W., Heutink, Peter, Scholz, Sonja, Huisman, Martijn, Slagboom, Eline, Holstege, Henne

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