The new mutation, E46K, of α-synuclein causes parkinson and Lewy body dementia
Zarranz, Juan J., Alegre, Javier, Gómez-Esteban, Juan C., Lezcano, Elena, Ros, Raquel, Ampuero, Israel, Vidal, Lídice, Hoenicka, Janet, Rodriguez, Olga, Atarés, Begoña, Llorens, Verónica, Tortosa, Estrella Gomez, del Ser, Teodoro, Muñoz, David G., de Yebenes, Justo G.
Published in Annals of neurology (01.02.2004)
Published in Annals of neurology (01.02.2004)
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Journal Article
TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism
Gómez‐Tortosa, Estrella, Baradaran‐Heravi, Yalda, Dillen, Lubina, Choudhury, Nila Roy, Agüero Rabes, Pablo, Pérez‐Pérez, Julián, Kocoglu, Cemile, Sainz, M. José, Ruiz González, Alicia, Téllez, Raquel, Cremades‐Jimeno, Lucía, Cárdaba, Blanca, Van Broeckhoven, Christine, Michlewski, Gracjan, Zee, Julie
Published in Alzheimer's & dementia (01.07.2023)
Published in Alzheimer's & dementia (01.07.2023)
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Journal Article
De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer’s disease is associated with pyramidal signs
Agüero, Pablo, Hernández‐Alfonso, Jorge, Sainz, María José, García‐Ribas, Guillermo, Téllez, Raquel, Lorda‐Sánchez, Isabel, Paredes‐Rodríguez, Patricia, Ávila‐Fernández, Almudena, Gomez‐Tortosa, Estrella
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels
Agüero-Rabes, Pablo, Pérez-Pérez, Julián, Cremades-Jimeno, Lucía, García-Ayllón, María-Salud, Gea-González, Adriana, Sainz, María José, Mahillo-Fernández, Ignacio, Téllez, Raquel, Cárdaba, Blanca, Sáez-Valero, Javier, Gómez-Tortosa, Estrella
Published in International journal of molecular sciences (24.03.2023)
Published in International journal of molecular sciences (24.03.2023)
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Journal Article
α-Secretase nonsense mutation (ADAM10 Tyr167) in familial Alzheimer's disease
Agüero, Pablo, Sainz, María José, García-Ayllón, María-Salud, Sáez-Valero, Javier, Téllez, Raquel, Guerrero-López, Rosa, Pérez-Pérez, Julián, Jiménez-Escrig, Adriano, Gómez-Tortosa, Estrella
Published in Alzheimer's research & therapy (31.10.2020)
Published in Alzheimer's research & therapy (31.10.2020)
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Journal Article
Reelin Expression and Glycosylation Patterns Are Altered in Alzheimer's Disease
Botella-López, Arancha, Burgaya, Ferran, Gavín, Rosalina, García-Ayllón, M. Salud, Gómez-Tortosa, Estrella, Peña-Casanova, Jordi, Ureña, Jesús M., Río, José A. Del, Blesa, Rafael, Soriano, Eduardo, Sáez-Valero, Javier
Published in Proceedings of the National Academy of Sciences - PNAS (04.04.2006)
Published in Proceedings of the National Academy of Sciences - PNAS (04.04.2006)
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Journal Article
Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion
Gómez-Tortosa, Estrella, Serrano, Soledad, de Toledo, María, Pérez-Pérez, Julián, Sainz, M. José
Published in Alzheimer's & dementia (01.10.2014)
Published in Alzheimer's & dementia (01.10.2014)
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Journal Article
Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations
Gómez-Tortosa, Estrella, Barquero, Sagrario, Barón, Manuel, Gil-Neciga, Eulogio, Castellanos, Fernando, Zurdo, Martín, Manzano, Sagrario, Muñoz, David G., Jiménez-Huete, Adolfo, Rábano, Alberto, Sainz, M. José, Guerrero, Rosa, Gobernado, Isabel, Pérez-Pérez, Julián, Jiménez-Escrig, Adriano
Published in Journal of Alzheimer's disease (01.01.2010)
Published in Journal of Alzheimer's disease (01.01.2010)
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Journal Article
Outcome of Mild Cognitive Impairment Comparing Early Memory Profiles
Gómez-Tortosa, Estrella, M.D., Ph.D, Mahillo-Fernández, Ignacio, Ph.D, Guerrero, Rosa, Ph.D, Montoya, Julia, M.D, Alonso, Ana, M.D, Sainz, M. José, Ph.D
Published in The American journal of geriatric psychiatry (01.10.2012)
Published in The American journal of geriatric psychiatry (01.10.2012)
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Journal Article
Quantitative neuropathological changes in presymptomatic Huntington's disease
Gómez-Tortosa, Estrella, MacDonald, Marcy E., Friend, Julia C., Taylor, Sherryl A.M., Weiler, Larry J., Cupples, L. Adrienne, Srinidhi, Jayalakshmi, Gusella, James F., Bird, Edward D., Vonsattel, Jean-Paul, Myers, Richard H.
Published in Annals of neurology (01.01.2001)
Published in Annals of neurology (01.01.2001)
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Journal Article
Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Morales, Blas, Martínez, Armando, Gonzalo, Isabel, Vidal, Lidice, Ros, Raquel, Gomez-Tortosa, Estrella, Rabano, Alberto, Ampuero, Israel, Sánchez, Marina, Hoenicka, Janet, García de Yébenes, Justo
Published in Movement disorders (01.11.2002)
Published in Movement disorders (01.11.2002)
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Journal Article
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
De Roeck, Arne, Van den Bossche, Tobi, van der Zee, Julie, Verheijen, Jan, De Coster, Wouter, Van Dongen, Jasper, Dillen, Lubina, Baradaran-Heravi, Yalda, Heeman, Bavo, Sanchez-Valle, Raquel, Lladó, Albert, Nacmias, Benedetta, Sorbi, Sandro, Gelpi, Ellen, Grau-Rivera, Oriol, Gómez-Tortosa, Estrella, Pastor, Pau, Ortega-Cubero, Sara, Pastor, Maria A., Graff, Caroline, Thonberg, Håkan, Benussi, Luisa, Ghidoni, Roberta, Binetti, Giuliano, de Mendonça, Alexandre, Martins, Madalena, Borroni, Barbara, Padovani, Alessandro, Almeida, Maria Rosário, Santana, Isabel, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Clarimon, Jordi, Lleó, Alberto, Fortea, Juan, Tsolaki, Magda, Koutroumani, Maria, Matěj, Radoslav, Rohan, Zdenek, De Deyn, Peter, Engelborghs, Sebastiaan, Cras, Patrick, Van Broeckhoven, Christine, Sleegers, Kristel
Published in Acta neuropathologica (01.09.2017)
Published in Acta neuropathologica (01.09.2017)
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Journal Article
TRIM25 nonsense mutation (p.C168) as the probable cause of early‐onset autosomal dominant Alzheimer’s disease
Gómez‐Tortosa, Estrella, Baradaran‐Heravi, Yalda, Dillen, Lubina, Agüero, Pablo, Sainz, María José, Pérez‐Pérez, Julián, Kocoglu, Cemile, Téllez, Raquel, Van Broeckhoven, Christine, van der Zee, Julie
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation
Gómez-Tortosa, Estrella, Van der Zee, Julie, Ruggiero, María, Gijselinck, Ilse, Esteban-Pérez, Jesús, García-Redondo, Alberto, Borrego-Hernández, Daniel, Navarro, Eloísa, Sainz, M. José, Pérez-Pérez, Julián, Cruts, Marc, Van Broeckhoven, Christine, Guerrero-López, Rosa
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2017)
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Journal Article
Plasma Neurodegenerative Biomarkers in Cognitively Preserved Nonagenarians
Gómez-Tortosa, Estrella, Agüero-Rabes, Pablo, Ruiz-González, Alicia, Wagner, Sonia, Téllez, Raquel, Mahillo, Ignacio, Ruiz-Calvo, Andrea, Sainz, María José, Nystrom, Anna Lena, Cremades-Jimeno, Lucía, Del Ser, Teodoro, Sánchez-Juan, Pascual
Published in Aging and disease (06.11.2024)
Published in Aging and disease (06.11.2024)
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Journal Article
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration
Gómez-Tortosa, Estrella, Gallego, Jesús, Guerrero-López, Rosa, Marcos, Alberto, Gil-Neciga, Eulogio, Sainz, María José, Díaz, Asunción, Franco-Macías, Emilio, Trujillo-Tiebas, María José, Ayuso, Carmen, Pérez-Pérez, Julián
Published in Neurology (22.01.2013)
Published in Neurology (22.01.2013)
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Journal Article
De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report
Agüero, Pablo, Sainz, María José, Téllez, Raquel, Lorda, Isabel, Ávila, Almudena, García-Ribas, Guillermo, Rodríguez, Patricia Paredes, Gómez-Tortosa, Estrella
Published in Journal of Alzheimer's disease (01.01.2021)
Published in Journal of Alzheimer's disease (01.01.2021)
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Journal Article
Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2) mutation
Gómez-Tortosa, Estrella, Baradaran-Heravi, Yalda, González Alvarez, Valentina, Sainz, María José, Prieto-Jurczynska, Cristina, Guerrero-López, Rosa, Agüero Rabes, Pablo, Van Broeckhoven, Christine, van der Zee, Julie, Rábano Gutiérrez, Alberto
Published in Neurobiology of aging (01.04.2019)
Published in Neurobiology of aging (01.04.2019)
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Journal Article
SORL1 Variants in Familial Alzheimer's Disease
Gómez-Tortosa, Estrella, Ruggiero, María, Sainz, Ma José, Villarejo-Galende, Alberto, Prieto-Jurczynska, Cristina, Venegas Pérez, Begoña, Ordás, Carlos, Agüero, Pablo, Guerrero-López, Rosa, Pérez-Pérez, Julián
Published in Journal of Alzheimer's disease (01.01.2018)
Published in Journal of Alzheimer's disease (01.01.2018)
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