Search Results - "Tortosa, Estrella Gomez"

The new mutation, E46K, of α-synuclein causes parkinson and Lewy body dementia by 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.

“…Familial parkinsonism and dementia with cortical and subcortical Lewy bodies is uncommon, and no genetic defect has been reported in the previously described…”
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TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism by 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

“…INTRODUCTION Patients with familial early‐onset dementia (EOD) pose a unique opportunity for gene identification studies. METHODS We present the phenotype and…”
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De novo PSEN1 mutation (Pro436Gln) in a very early onset posterior variant of Alzheimer’s disease is associated with pyramidal signs by 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

“…Background Alzheimer’s disease (AD) is a common cause of dementia even in cases with very early onset, and implication of monogenic mutations in the PSEN1,…”
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ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels by 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

“…ADAM10 is the main α-secretase acting in the non-amyloidogenic processing of APP. We hypothesized that certain rare variants could increase the risk for AD by…”
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α-Secretase nonsense mutation (ADAM10 Tyr167) in familial Alzheimer's disease by 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

“…The disintegrin metalloproteinase 10 (ADAM10) is the main α-secretase acting in the non-amyloidogenic processing of APP. Some ADAM10 gene variants have been…”
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Reelin Expression and Glycosylation Patterns Are Altered in Alzheimer's Disease by 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

“…Reelin is a glycoprotein that is essential for the correct cytoarchitectonic organization of the developing CNS. Its function in the adult brain is less…”
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Cortical neurons expressing calcium binding proteins are spared in dementia with Lewy bodies by GOMEZ-TORTOSA, Estrella, SANDERS, Judith L, NEWELL, Kathy, HYMAN, Bradley T

“…The consistent regional and laminar distribution of cortical Lewy bodies (LB) in brains of patients with dementia with Lewy bodies (DLB) suggests that only a…”
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Familial benign frontotemporal deterioration with C9ORF72 hexanucleotide expansion by Gómez-Tortosa, Estrella, Serrano, Soledad, de Toledo, María, Pérez-Pérez, Julián, Sainz, M. José

“…Abstract Background In recent years, a benign variant of frontotemporal lobar degeneration (FTLD) has been recognized, with a particularly slow progression of…”
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Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations by 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

“…We describe the clinical phenotype of nine kindred with presenile Alzheimer's disease (AD) caused by different presenilin 1 (PS1) point mutations, and compare…”
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Outcome of Mild Cognitive Impairment Comparing Early Memory Profiles by 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

“…Background Finding variables that predict decline or stability in persons with amnestic mild cognitive impairment (aMCI) is an important step in identifying…”
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Quantitative neuropathological changes in presymptomatic Huntington's disease by 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.

“…Morphometric studies of the tail of the caudate nucleus, the site where the pathology is first seen, were performed on 16 brain specimens collected from…”
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Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein by 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

“…Steele‐Richardson‐Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been…”
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Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease by 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

“…Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene ( ABCA7 ) have recently been identified as…”
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TRIM25 nonsense mutation (p.C168) as the probable cause of early‐onset autosomal dominant Alzheimer’s disease by 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

“…Background Patients with early‐onset dementia (EOD) often have a high genetic burden, and EOD kindreds with an autosomal dominant pattern of inheritance (ADPI)…”
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Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation by 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

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C9ORF72 hexanucleotide expansions of 20―22 repeats are associated with frontotemporal deterioration by GOMEZ-TORTOSA, Estrella, GALLEGO, Jesús, PEREZ-PEREZ, Julian, GUERRERO-LOPEZ, Rosa, MARCOS, Alberto, GIL-NECIGA, Eulogio, JOSE SAINZ, María, DIAZ, Asunción, FRANCO-MACIAS, Emilio, JOSE TRUJILLO-TIEBAS, María, AYUSO, Carmen

“…Expansions of more than 30 hexanucleotide repetitions in the C9ORF72 gene are a common cause of frontotemporal dementia (FTD) or amyotrophic lateral sclerosis…”
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De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer's Disease Associated with Spasticity: A Case Report by Agüero, Pablo, Sainz, María José, Téllez, Raquel, Lorda, Isabel, Ávila, Almudena, García-Ribas, Guillermo, Rodríguez, Patricia Paredes, Gómez-Tortosa, Estrella

“…We report a patient with sporadic Alzheimer's disease with onset in his twenties found to carry the de novo Pro436Gln mutation in the presenilin 1 gene (PS1)…”
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Presence of tau astrogliopathy in frontotemporal dementia caused by a novel Grn nonsense (Trp2) mutation by 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

“…Frontotemporal lobar degeneration caused by GRN mutations is mainly associated with a TDP-43 type A proteinopathy. We present a family with autosomal dominant…”
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SORL1 Variants in Familial Alzheimer's Disease by 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

“…The SORL1 gene encodes a protein involved in the amyloidogenic process, and its variants have been associated with Alzheimer's disease (AD) physiopathology. We…”
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Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings by Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta

“…In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37…”
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