يعرض 1 - 10 نتائج من 67 نتيجة بحث عن '"Estrella Gómez-Tortosa"', وقت الاستعلام: 1.37s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

    المؤلفون: Imogen J. Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M. José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S. Block, Aaron M. Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C. Jiskoot, Lieke H. H. Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C. Petersen, Dennis W. Dickson, Neill R. Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L. van der Ende, John C. van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D. Rohrer

    المصدر: Alzheimer’s Research & Therapy, Vol 16, Iss 1, Pp 1-13 (2024)

    مصطلحات موضوعية: Frontotemporal dementia, Progranulin, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1758-9193Test

    الوصول الحر: https://doaj.org/article/1d7c751ac55c494a90e49ef788756561Test

    View record in DOAJ النص الكامل

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  2. 2
    دورية أكاديمية
    ADAM10 Gene Variants in AD Patients and Their Relationship to CSF Protein Levels

    المؤلفون: Pablo Agüero-Rabes, Julián Pérez-Pérez, Lucía Cremades-Jimeno, María-Salud García-Ayllón, Adriana Gea-González, María José Sainz, Ignacio Mahillo-Fernández, Raquel Téllez, Blanca Cárdaba, Javier Sáez-Valero, Estrella Gómez-Tortosa

    المصدر: International Journal of Molecular Sciences, Vol 24, Iss 7, p 6113 (2023)

    مصطلحات موضوعية: Alzheimer’s disease, ADAM10, α-secretase, disintegrin metalloproteinase 10 protein, genetics, CSF biomarkers, Biology (General), QH301-705.5, Chemistry, QD1-999

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/1422-0067/24/7/6113Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

    الوصول الحر: https://doaj.org/article/23c4a0b3ebc64e67b10f33505c3b7bb2Test

    View record in DOAJ النص الكامل

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  3. 3
    دورية أكاديمية
    α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease

    المؤلفون: Pablo Agüero, María José Sainz, María-Salud García-Ayllón, Javier Sáez-Valero, Raquel Téllez, Rosa Guerrero-López, Julián Pérez-Pérez, Adriano Jiménez-Escrig, Estrella Gómez-Tortosa

    المصدر: Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-9 (2020)

    مصطلحات موضوعية: ADAM10, α-Secretase, Familial Alzheimer’s disease, Genetics, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s13195-020-00708-0Test; https://doaj.org/toc/1758-9193Test

    الوصول الحر: https://doaj.org/article/1945eb16f7ce4efa8b1627d5407c2b05Test

    View record in DOAJ النص الكامل

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  4. 4
    دورية أكاديمية
    Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings

    المؤلفون: Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia

    المصدر: International Journal of Molecular Sciences, Vol 23, Iss 8, p 4230 (2022)

    مصطلحات موضوعية: SORL1, Alzheimer, homozygous case, cerebral amyloid angiopathy, SorLA immunohistochemistry, Biology (General), QH301-705.5, Chemistry, QD1-999

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/1422-0067/23/8/4230Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

    الوصول الحر: https://doaj.org/article/fc0b0cbd907349918ab1ecb68b3326b7Test

    View record in DOAJ النص الكامل

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  5. 5
    Next Generation Sequencing analysis of late‐onset dementia patients with a strong family history

    المؤلفون: Estrella Gómez‐Tortosa, Pablo Agüero, María José Sainz, Julián Pérez‐Pérez

    المصدر: Alzheimer's & Dementia. 18

    مصطلحات موضوعية: Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::db23f145b00230c740a89dbd6333e959Test
    https://doi.org/10.1002/alz.062108Test


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  6. 6
    CSF Alzheimer’s biomarkers in clinical practice

    المؤلفون: Pablo Agüero, Agustín Querejeta, María José Sainz, Raquel Téllez, Estrella Gómez‐Tortosa

    المصدر: Alzheimer's & Dementia. 18

    مصطلحات موضوعية: Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Epidemiology, Health Policy, Neurology (clinical), Geriatrics and Gerontology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9526dabdeb866833976bc32122238769Test
    https://doi.org/10.1002/alz.062389Test


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  7. 7
    De Novo PS1 Mutation (Pro436Gln) in a Very Early-Onset Posterior Variant of Alzheimer’s Disease Associated with Spasticity: A Case Report

    المؤلفون: Pablo Daniel Agüero, Isabel Lorda, María José Sainz, Estrella Gómez-Tortosa, Guillermo García-Ribas, Patricia Paredes Rodríguez, Almudena Ávila, Raquel Téllez

    المصدر: Journal of Alzheimer's Disease. 83:1011-1016

    مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, General Neuroscience, Posterior cortical atrophy, Posterior parietal cortex, General Medicine, Disease, medicine.disease, Psychiatry and Mental health, Clinical Psychology, Atrophy, Cerebrospinal fluid, mental disorders, medicine, Spasticity, Senile plaques, Geriatrics and Gerontology, medicine.symptom, business, Visual agnosia

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::df10e2d680ee29dc44b072e972fc3d53Test
    https://doi.org/10.3233/jad-210420Test


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  8. 8
    TRIM25 mutation (p.C168*), coding for an E3 ubiquitin ligase, is a cause of early-onset autosomal dominant dementia with amyloid load and parkinsonism

    المؤلفون: Estrella, Gómez-Tortosa, Yalda, Baradaran-Heravi, Lubina, Dillen, Nila Roy, Choudhury, Pablo, Agüero Rabes, Julián, Pérez-Pérez, Cemile, Kocoglu, M José, Sainz, Alicia, Ruiz González, Raquel, Téllez, Lucía, Cremades-Jimeno, Blanca, Cárdaba, Christine, Van Broeckhoven, Gracjan, Michlewski, Julie, van der Zee

    المصدر: Alzheimer'sdementia : the journal of the Alzheimer's AssociationREFERENCES.

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3df946ac2abcca2ca96a63e595754d24Test
    https://pubmed.ncbi.nlm.nih.gov/36576960Test


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  9. 9
    CSF Biomarkers profile in siblings with Alzheimer’s disease carrying the ADAM10 nonsense mutation p.Tyr167*

    المؤلفون: Adriano Jimenez-Escrig, María José Sainz, María-Salud García-Ayllón, Juilán Pérez Pérez, Javier Sáez-Valero, Estrella Gómez-Tortosa, Pablo Agüero, Rosa Guerrero-López, Raquel Téllez

    المصدر: Alzheimer's & Dementia. 16

    مصطلحات موضوعية: Epidemiology, business.industry, Health Policy, ADAM10, Nonsense mutation, Disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Immunology, Csf biomarkers, Medicine, Neurology (clinical), Geriatrics and Gerontology, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dfd29b054d71c788c689c5824db6d7d5Test
    https://doi.org/10.1002/alz.047390Test


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  10. 10
    α-Secretase nonsense mutation (ADAM10 Tyr167*) in familial Alzheimer’s disease

    المؤلفون: Estrella Gómez-Tortosa, Pablo Agüero, Adriano Jimenez-Escrig, Javier Sáez-Valero, María José Sainz, María-Salud García-Ayllón, Rosa Guerrero-López, Julián Pérez-Pérez, Raquel Téllez

    المساهمون: Ministerio de Economía y Competitividad (España), Generalitat Valenciana, Instituto de Salud Carlos III, European Commission

    المصدر: Alzheimer's Research & Therapy
    Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-9 (2020)
    Digital.CSIC. Repositorio Institucional del CSIC
    instname
    ALZHEIMERS RESEARCH & THERAPY
    r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
    r-FISABIO: Repositorio Institucional de Producción Científica
    Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

    مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cognitive Neuroscience, media_common.quotation_subject, ADAM10, Nonsense mutation, Nonsense, Mutant, Biology, medicine.disease_cause, lcsh:RC346-429, Familial Alzheimer’s disease, lcsh:RC321-571, 03 medical and health sciences, ADAM10 Protein, Amyloid beta-Protein Precursor, 0302 clinical medicine, Alzheimer Disease, Internal medicine, Genetic model, medicine, Genetics, Humans, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, lcsh:Neurology. Diseases of the nervous system, media_common, Mutation, Amyloid beta-Peptides, Research, Membrane Proteins, α-Secretase, Peptide Fragments, 030104 developmental biology, Endocrinology, a-Secretase, Neurology, Codon, Nonsense, Biomarker (medicine), Neurology (clinical), Amyloid Precursor Protein Secretases, Haploinsufficiency, 030217 neurology & neurosurgery, Biomarkers

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95837f710f2cdaedfd9b8e135ab80af2Test
    http://europepmc.org/articles/PMC7603780Test


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