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1. Full Text Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
by García‐Redondo, Alberto and Dols‐Icardo, Oriol and Rojas‐García, Ricard and Esteban‐Pérez, Jesús and Cordero‐Vázquez, Pilar and Muñoz‐Blanco, José Luis and Catalina, Irene and González‐Muñoz, Miguel and Varona, Luis and Sarasola, Esther and Povedano, Monica and Sevilla, Teresa and Guerrero, Antonio and Pardo, Julio and de Munain, Adolfo López and Márquez‐Infante, Celedonio and de Rivera, Francisco Javier Rodríguez and Pastor, Pau and Jericó, Ivonne and de Arcaya, Amaya Álvarez and Mora, Jesús S and Clarimón, Jordi and Gonzalo‐Martínez, Juan Francisco and Juárez‐Rufián, Alexandra and Atencia, Gabriela and Jiménez‐Bautista, Rosario and Morán, Yolanda and Mascías, Javier and Hernández‐Barral, María and Kapetanovic, Solange and García‐Barcina, María and Alcalá, Carmen and Vela, Álvaro and Ramírez‐Ramos, Concepción and Galán, Lucía and Pérez‐Tur, Jordi and Quintáns, Beatriz and Sobrido, M Jesús and Fernández‐Torrón, Roberto and Poza, Juan José and Gorostidi, Ana and Paradas, Carmen and Villoslada, Pablo and Larrodé, Pilar and Capablo, José Luis and Pascual‐Calvet, Jordi and Goñi, Miguel and Morgado, Yolanda and Guitart, Miriam and Moreno‐Laguna, Sira and Rueda, Almudena and Martín‐Estefanía, Carlos and Cemillán, Carlos and Blesa, Rafael and Lleó, Alberto and C9ORF72 Spanish Study Grp and C9ORF72 Spanish Study Group
Human mutation, ISSN 1059-7794, 01/2013, Volume 34, Issue 1, pp. 79 - 82
frontotemporal dementia | expansion mutation | amyotrophic lateral sclerosis | C9orf72 | Expansion mutation | Amyotrophic lateral sclerosis | Frontotemporal dementia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | DNA Repeat Expansion - genetics | Humans | Asian Continental Ancestry Group - genetics | Male | Europe - ethnology | Ethnic Groups - genetics | DNA Mutational Analysis | Africa - ethnology | Aged, 80 and over | Female | C9orf72 Protein | China - ethnology | Genetic Predisposition to Disease - genetics | Amyotrophic Lateral Sclerosis - genetics | Gene Frequency | Kaplan-Meier Estimate | Amyotrophic Lateral Sclerosis - ethnology | Spain | Proteins - genetics | Genetic Predisposition to Disease - ethnology | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | Japan - ethnology | Care and treatment | Genetic aspects | Chromosomes | Analysis | Dementia | Index Medicus
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2. Full Text Genetic-environmental factors finally assessed together in Parkinson’s disease
by Clarimón, Jordi
Journal of neurology, neurosurgery and psychiatry, ISSN 0022-3050, 10/2020, Volume 91, Issue 10, pp. 1030 - 1030
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Surgery | Science & Technology | Genomes | Diabetes | Health risk assessment | Risk factors | Parkinsons disease | Index Medicus
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3. Full Text Plasma and CSF biomarkers for the diagnosis of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
by Fortea, Juan and Carmona-Iragui, María and Benejam, Bessy and Fernández, Susana and Videla, Laura and Barroeta, Isabel and Alcolea, Daniel and Pegueroles, Jordi and Muñoz, Laia and Belbin, Olivia and de Leon, Mony J and Maceski, Aleksandra Maleska and Hirtz, Christophe and Clarimón, Jordi and Videla, Sebastián and Delaby, Constance and Lehmann, Sylvain and Blesa, Rafael and Lleó, Alberto
Lancet neurology, ISSN 1474-4422, 10/2018, Volume 17, Issue 10, pp. 860 - 869
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Medical research | Medical examination | Analysis | Medicine, Experimental | Adults | Diagnostic imaging | Diagnosis | Down syndrome | Biological markers | Alzheimer's disease | Blood | Neuroimaging | Plasma | Intellectual disabilities | Clinical trials | Thyroid gland | Cerebrospinal fluid | Medical diagnosis | Psychotropic drugs | Proteins | Down's syndrome | Neurodegeneration | Dementia disorders | Amyloid | Age | Enzyme-linked immunosorbent assay | Handicapped accessibility | Neurodegenerative diseases | Studies | Tau protein | Biomarkers | Alzheimers disease | Dementia | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition
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4. Full Text Nanoscale structure of amyloid-β plaques in Alzheimer’s disease
by Querol-Vilaseca, Marta and Colom-Cadena, Martí and Pegueroles, Jordi and Nuñez-Llaves, Raúl and Luque-Cabecerans, Joan and Muñoz-Llahuna, Laia and Andilla, Jordi and Belbin, Olivia and Spires-Jones, Tara L and Gelpi, Ellen and Clarimon, Jordi and Loza-Alvarez, Pablo and Fortea, Juan and Lleó, Alberto
Scientific reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 5181 - 5181
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Animal models | Microscopy | Cell death | Neurodegeneration | Autopsy | Amyloid | Alzheimer's disease | Plaques | Index Medicus
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5. Full Text Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia
by Ruiz, Agustín and Dols-Icardo, Oriol and Bullido, María J and Pastor, Pau and Rodríguez-Rodríguez, Eloy and López de Munain, Adolfo and de Pancorbo, Marian M and Pérez-Tur, Jordi and Álvarez, Victoria and Antonell, Anna and López-Arrieta, Jesús and Hernández, Isabel and Tárraga, Lluís and Boada, Mercè and Lleó, Alberto and Blesa, Rafael and Frank-García, Ana and Sastre, Isabel and Razquin, Cristina and Ortega-Cubero, Sara and Lorenzo, Elena and Sánchez-Juan, Pascual and Combarros, Onofre and Moreno, Fermín and Gorostidi, Ana and Elcoroaristizabal, Xabier and Baquero, Miquel and Coto, Eliecer and Sánchez-Valle, Raquel and Clarimón, Jordi and The dementia genetic Spanish consortium (DEGESCO) and Dementia Genetic Spanish Consortiu and dementia genetic Spanish consortium (DEGESCO)
Neurobiology of aging, ISSN 0197-4580, 2014, Volume 35, Issue 2, pp. 444.e1 - 444.e4
Neurology | Internal Medicine | Rare variant | TREM2 | Frontotemporal dementia | Genetic association | p.R47H | Alzheimer's disease | P.R47H | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Frontotemporal Dementia - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Meta-Analysis as Topic | Genes, Recessive - genetics | Humans | Middle Aged | Risk Factors | Genotype | Male | Membrane Glycoproteins - genetics | Spain | Multicenter Studies as Topic | Alleles | Aged, 80 and over | Female | Polymorphism, Genetic - genetics | Aged | Mutation | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Cohort Studies | Medicine, Experimental | Medical research | Risk factors | Amyloid beta-protein | Index Medicus
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6. Full Text Methylglyoxal produced by amyloid-β peptide-induced nitrotyrosination of triosephosphate isomerase triggers neuronal death in alzheimer's disease
by Tajes, Marta and Eraso-Pichot, Abel and Rubio-Moscardó, Fanny and Guivernau, Biuse and Ramos-Fernández, Eva and Bosch-Morató, Mònica and Guix, Francesc Xavier and Clarimón, Jordi and Miscione, Gian Pietro and Boada, Mercé and Gil-Gómez, Gabriel and Suzuki, Toshiharu and Molina, Henrik and Villà-Freixa, Jordi and Vicente, Rubén and Muñoz, Francisco J
Journal of Alzheimer's disease, ISSN 1387-2877, 2014, Volume 41, Issue 1, pp. 273 - 288
methylglyoxal | 3-nitrotyrosine | apoptosis | amyloid | Alzheimer's disease | triose-phosphate isomerase | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | Middle Aged | Cell Survival - genetics | Apoptosis - genetics | Male | Triose-Phosphate Isomerase - genetics | Pyruvaldehyde - metabolism | Computer Simulation | Amyloid beta-Peptides - metabolism | Neurons - physiology | Triose-Phosphate Isomerase - metabolism | Female | Cell Survival - physiology | Alzheimer Disease - physiopathology | Peptide Fragments - metabolism | Brain - physiopathology | Models, Molecular | Presenilin-1 - genetics | Mice, Transgenic | Amyloid beta-Protein Precursor - genetics | Animals | Cell Line, Tumor | Aged | Apoptosis - physiology | Alzheimer Disease - genetics | Index Medicus | Alzheimer, Malaltia d | Methylglyoxal | Amyloid | Triose-phosphate isomerase | Apoptosis
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7. Full Text Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP
by Guerreiro, Rita Joao and Baquero, Miquel and Blesa, Rafael and Boada, Mercè and Brás, Jose Miguel and Bullido, Maria J and Calado, Ana and Crook, Richard and Ferreira, Carla and Frank, Ana and Gómez-Isla, Teresa and Hernández, Isabel and Lleó, Alberto and Machado, Alvaro and Martínez-Lage, Pablo and Masdeu, José and Molina-Porcel, Laura and Molinuevo, José L and Pastor, Pau and Pérez-Tur, Jordi and Relvas, Rute and Oliveira, Catarina Resende and Ribeiro, Maria Helena and Rogaeva, Ekaterina and Sa, Alfredo and Samaranch, Lluís and Sánchez-Valle, Raquel and Santana, Isabel and Tàrraga, Lluís and Valdivieso, Fernando and Singleton, Andrew and Hardy, John and Clarimón, Jordi
Neurobiology of aging, ISSN 0197-4580, 2008, Volume 31, Issue 5, pp. 725 - 731
Neurology | Internal Medicine | APP | Mutations | Early-onset Alzheimer's disease | Presenilins | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Fundamental and applied biological sciences. Psychology | Vertebrates: nervous system and sense organs | Development. Senescence. Regeneration. Transplantation | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Medical sciences | Genetic Predisposition to Disease - genetics | Genetic Testing | Humans | Middle Aged | Africa | Presenilin-1 - genetics | Exons - genetics | Mutation - genetics | Portugal | Spain | Amyloid beta-Protein Precursor - genetics | Presenilin-2 - genetics | Adult | Aged | Alzheimer Disease - genetics | Index Medicus
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8. Full Text Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease
by Pera, Marta and Pera, Marta and Alcolea, Daniel and Alcolea, Daniel and Sánchez-Valle, Raquel and Sánchez-Valle, Raquel and Guardia-Laguarta, Cristina and Guardia-Laguarta, Cristina and Colom-Cadena, Martí and Colom-Cadena, Martí and Badiola, Nahuai and Badiola, Nahuai and Suárez-Calvet, Marc and Suárez-Calvet, Marc and Lladó, Albert and Lladó, Albert and Barrera-Ocampo, Alvaro A and Barrera-Ocampo, Alvaro A and Sepulveda-Falla, Diego and Sepulveda-Falla, Diego and Blesa, Rafael and Blesa, Rafael and Molinuevo, José L and Molinuevo, José L and Clarimón, Jordi and Clarimón, Jordi and Ferrer, Isidre and Ferrer, Isidre and Gelpi, Ellen and Gelpi, Ellen and Lleó, Alberto and Lleó, Alberto
Acta neuropathologica, ISSN 0001-6322, 2/2013, Volume 125, Issue 2, pp. 201 - 213
Pathology | Neurosciences | Autosomal-dominant Alzheimer disease | Medicine & Public Health | β -Site APP-cleaving enzyme | Presenilin | β -Amyloid | Amyloid precursor protein | β-Amyloid | β-Site APP-cleaving enzyme | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Immunohistochemistry | Central Nervous System - metabolism | Humans | Middle Aged | Male | Apolipoproteins E - metabolism | Amyloid beta-Protein Precursor - cerebrospinal fluid | Amyloid beta-Protein Precursor - metabolism | Adult | Female | Presenilin-1 - cerebrospinal fluid | Presenilin-1 - genetics | Alzheimer Disease - cerebrospinal fluid | Mutation - genetics | Amyloid Precursor Protein Secretases - cerebrospinal fluid | Blotting, Western | Neurites - pathology | Amyloid Precursor Protein Secretases - metabolism | Aspartic Acid Endopeptidases - cerebrospinal fluid | Apolipoproteins E - genetics | Aspartic Acid Endopeptidases - metabolism | Alzheimer Disease - metabolism | Heterozygote | Aged | Alzheimer Disease - genetics | Physiological aspects | Enzymes | Alzheimer's disease | Amyloid beta-protein | Index Medicus | Brain | Neurodegenerative diseases | BACE protein | Central nervous system | Clinical trials | Data processing | beta -Amyloid | Cerebrospinal fluid | beta -Site APP cleaving enzyme | Amyloid | Mutation | Original Paper
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9. Full Text Detection of genomic rearrangements from targeted resequencing data in Parkinson's disease patients
by Spataro, Nino and Roca‐Umbert, Ana and Cervera‐Carles, Laura and Vallès, Mònica and Anglada, Roger and Pagonabarraga, Javier and Pascual‐Sedano, Berta and Campolongo, Antònia and Kulisevsky, Jaime and Casals, Ferran and Clarimón, Jordi and Bosch, Elena
Movement disorders, ISSN 0885-3185, 01/2017, Volume 32, Issue 1, pp. 165 - 169
structural variants | Parkinson's disease | XHMM software | next generation sequencing | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Parkinson Disease - genetics | Sequence Analysis, DNA - methods | Humans | Cohort Studies | DNA Copy Number Variations | Spain | Markov processes | Nucleotide sequencing | Analysis | DNA sequencing | Neurodegenerative diseases | LRRK2 protein | PTEN-induced putative kinase | Movement disorders | Parkinsons disease | Index Medicus | Structural variants | Next generation sequencing | Brief Report | Brief Reports
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10. Full Text Clinical and biomarker changes of Alzheimer's disease in adults with Down syndrome: a cross-sectional study
by Fortea, Juan and Vilaplana, Eduard and Carmona-Iragui, Maria and Benejam, Bessy and Videla, Laura and Barroeta, Isabel and Fernández, Susana and Altuna, Miren and Pegueroles, Jordi and Montal, Víctor and Valldeneu, Silvia and Giménez, Sandra and González-Ortiz, Sofía and Muñoz, Laia and Estellés, Teresa and Illán-Gala, Ignacio and Belbin, Olivia and Camacho, Valle and Wilson, Liam Reese and Annus, Tiina and Osorio, Ricardo S and Videla, Sebastián and Lehmann, Sylvain and Holland, Anthony J and Alcolea, Daniel and Clarimón, Jordi and Zaman, Shahid H and Blesa, Rafael and Lleó, Alberto
The Lancet (British edition), ISSN 0140-6736, 06/2020, Volume 395, Issue 10242, pp. 1988 - 1997
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Medicine, Experimental | Medical research | Down syndrome | Alzheimer's disease | Caregivers | Plasma | Mental disorders | Peptides | Intellectual disabilities | Cognitive ability | Disabilities | Cognition | Cerebrospinal fluid | Proteins | Atrophy | Down's syndrome | Neurodegeneration | Apolipoprotein E | Older people | Tomography | Dementia disorders | Population | Amyloid | Natural history | Age | Automation | Medical imaging | Threonine | Neurodegenerative diseases | Complications | Abnormalities | Medical treatment | Positron emission | Fluorine isotopes | Metabolism | Hospitals | Magnetic resonance imaging | Tau protein | Biomarkers | Adults | Alzheimers disease | Positron emission tomography | Carrier density | Hippocampus | Tracers | Dementia | Index Medicus | Abridged Index Medicus
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