المؤلفون: Marc Hulsman, Geert Jan Biessels, Yolande A.L. Pijnenburg, Frans R.J. Verhey, Arfan Ikram, Peter Paul De Deyn, Sven J. van der Lee, Lianne M. Reus, Marcel J. T. Reinders, Aad van der Lugt, Iris E. Jansen, Pieter Jelle Visser, Cornelia M. van Duijn, Henne Holstege, John C. van Swieten, Shahzad Ahmad, Sterre C M de Boer, Natasja M. van Schoor, Fred van Ruissen, Jeroen van Rooij, Niccolò Tesi, Harro Seelaar, Martijn Huisman, Inez H.G.B. Ramakers, Merel O. Mol, Philip Scheltens, Jurgen A.H.R. Claassen, Wiesje M. van der Flier, André G. Uitterlinden, Najaf Amin

المساهمون: Neurology, Amsterdam Neuroscience - Neurodegeneration, Epidemiology and Data Science, APH - Aging & Later Life, APH - Personalized Medicine, Human genetics, Other Research, APH - Societal Participation & Health, Amsterdam Neuroscience - Complex Trait Genetics, APH - Methodology, Human Genetics, ANS - Neurodegeneration, ARD - Amsterdam Reproduction and Development, Epidemiology, Internal Medicine, Radiology & Nuclear Medicine, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Molecular Neuroscience and Ageing Research (MOLAR), Complex Trait Genetics, Sociology, The Social Context of Aging (SoCA)

المصدر: Translational Psychiatry
Reus, L M, Jansen, I E, Mol, M O, van Ruissen, F, van Rooij, J, van Schoor, N M, Tesi, N, Reinders, M J T, Huisman, M A, Holstege, H, Visser, P J, de Boer, S C M, Hulsman, M, Ahmad, S, Amin, N, Uitterlinden, A G, Ikram, A, van Duijn, C M, Seelaar, H, Ramakers, I H G B, Verhey, F R J, van der Lugt, A, Claassen, J A H R, Jan Biessels, G, de Deyn, P P, Scheltens, P, van der Flier, W M, van Swieten, J C, Pijnenburg, Y A L & van der Lee, S J 2021, ' Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions ', Translational psychiatry, vol. 11, no. 1, 451 . https://doi.org/10.1038/s41398-021-01577-3
Translational psychiatry, 11(1):451
Translational psychiatry, 11(1):451. Nature Publishing Group
Translational Psychiatry, 11, 1
Translational Psychiatry, Vol 11, Iss 1, Pp 1-8 (2021)
Translational Psychiatry, 11(1):451. Nature Publishing Group
Reus, L M, Jansen, I E, Mol, M O, van Ruissen, F, van Rooij, J, van Schoor, N M, Tesi, N, Reinders, M J T, Huisman, M A, Holstege, H, Visser, P J, de Boer, S C M, Hulsman, M, Ahmad, S, Amin, N, Uitterlinden, A G, Ikram, A, van Duijn, C M, Seelaar, H, Ramakers, I H G B, Verhey, F R J, van der Lugt, A, Claassen, J A H R, Jan Biessels, G, De Deyn, P P, Scheltens, P, van der Flier, W M, van Swieten, J C, Pijnenburg, Y A L & van der Lee, S J 2021, ' Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions ', Translational Psychiatry, vol. 11, 451, pp. 1-8 . https://doi.org/10.1038/s41398-021-01577-3
Translational Psychiatry, 11:451. Nature Publishing Group
Translational Psychiatry, 11
Translational Psychiatry, 11(1)
Translational Psychiatry, 11:451, 1-8. Nature Publishing Group

مصطلحات موضوعية: Alzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1], C9orf72 Protein/genetics, LOCI, Genome-wide association study, Neurosciences. Biological psychiatry. Neuropsychiatry, Biology, Article, AMYOTROPHIC-LATERAL-SCLEROSIS, DISEASE, PANEL, Cellular and Molecular Neuroscience, DNA Repeat Expansion/genetics, Frontotemporal Dementia/genetics, All institutes and research themes of the Radboud University Medical Center, SDG 3 - Good Health and Well-being, UNC13A, C9orf72, medicine, Genetics, Humans, COHORT, LOBAR DEGENERATION, Amyotrophic lateral sclerosis, Biological Psychiatry, Genetic association, DNA Repeat Expansion, HEXANUCLEOTIDE REPEAT, C9orf72 Protein, MUTATIONS, Haplotype, Diagnostic markers, Heritability, medicine.disease, Psychiatry and Mental health, Haplotypes, Frontotemporal Dementia, TAU, Psychiatric disorders, Imputation (genetics), Frontotemporal dementia, RC321-571, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fed65e3e619da0126b963b04d85f934
https://doi.org/10.1038/s41398-021-01577-3

المؤلفون: Feldman, Adina Leiah

مصطلحات موضوعية: Parkinson Disease -- epidemiology, Parkinson Disease -- etiology, Parkinson Disease -- genetics, Dementia -- epidemiology, Dementia -- etiology, Dementia -- genetics, Comorbidity, Occupational Exposure -- adverse effects, Diseases in Twins -- genetics, Registries, Pedigree

Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2014

المؤلفون: Caracciolo, Barbara

مصطلحات موضوعية: Cognitive Disorders -- epidemiology, Cognitive Disorders -- genetics, Cognitive Disorders -- psychology, Dementia -- epidemiology, Dementia -- genetics, Dementia -- psychology, Disease Progression, Incidence, Aged -- psychology, Comorbidity

URL الوصول: http://hdl.handle.net/10616/40582

Degree: Diss. (sammanfattning) Stockholm : Karolinska institutet, 2011

المؤلفون: Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

المساهمون: HUIN, Vincent, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospital (HUG), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Medical Office [Geneva, Switzerland], Service de pathologie [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neuropathologie [CHU Pitié Salpêtrière], Institut de la Mémoire et de la Maladie d'Alzheimer [CHU Pitié-Salpétriêre] (IM2A)

المصدر: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

مصطلحات موضوعية: MESH: Epilepsy / genetics, TDP-43, MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging, MESH: TDP-43 Proteinopathies / physiopathology, MESH: RNA Splicing / genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: Child, MESH: Cerebellar Ataxia / genetics, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Cerebellar ataxia, MESH: Heterozygote, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, MESH: Middle Aged, Neuronal ceroid lipofuscinosis, MESH: Neuronal Ceroid-Lipofuscinoses / physiopathology, MESH: Parkinsonian Disorders / genetics, frontotemporal lobar degeneration, MESH: Cognitive Dysfunction / genetics, MESH: Young Adult, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Parkinsonian Disorders / diagnostic imaging, MESH: TDP-43 Proteinopathies / genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], MESH: Neuronal Ceroid-Lipofuscinoses / genetics, GRN, Frontotemporal dementia, MESH: Homozygote, MESH: Progranulins / metabolism, MESH: Rare Diseases, Progranulin, MESH: Mutation, MESH: Frontotemporal Dementia / genetics, MESH: Age of Onset, MESH: Parkinsonian Disorders / physiopathology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Frontotemporal Dementia / diagnostic imaging, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], MESH: Retinitis Pigmentosa / genetics, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Adolescent, MESH: Humans, MESH: Progranulins / genetics, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, MESH: TDP-43 Proteinopathies / diagnostic imaging, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Frontotemporal Dementia / physiopathology, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1398::6ccf31a88f1bb53f37d07fa49a3a3ccc
https://www.hal.inserm.fr/inserm-03014481v2/document

المؤلفون: Skoglund, Lena

مصطلحات موضوعية: Dementia -- genetics, tau Proteins -- genetics, Alternative Splicing, Demens

URL الوصول: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9550

Degree: Diss. (sammanfattning) Uppsala : Uppsala universitet, 2009

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تسجيل الدخول للوصول الكامل.

المؤلفون: Antoinette Gelot, Alexis Brice, Agnès Camuzat, Benoit Rucheton, Laureen Chat, Dario Saracino, Frédérique Fluchère, Johannes Alexander Lobrinus, Fabienne Clot, Sylvie Forlani, Peter Myers, Alexandra Durr, Ludmila Jornea, Isabelle Le Ber, Vincent Huin, Foudil Lamari, Mathieu Barbier, Armand Bottani, Catherine Caillaud, Stéphane Auvin, Charles Duyckaerts

المساهمون: UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Technocentre Renault [Guyancourt], RENAULT, Génétique médicale, Hôpitaux Universitaires de Genève (HUG), University of Geneva [Switzerland], Neurologie et thérapeutique expérimentale, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR70-Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Université de Bordeaux (UB), Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université] (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Polytech'Paris-UPMC, Université Pierre et Marie Curie - Paris 6 (UPMC), Laboratoire de Neuropathologie Raymond Escourolle, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Geneva University Hospital (HUG), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université de Paris (UP), Medical Office [Geneva, Switzerland], Service de pathologie [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neuropathologie [CHU Pitié Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de la Mémoire et de la Maladie d'Alzheimer [Paris] (IM2A), Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Cité (UPCité), Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM), AP-HP, INSERM, CNRS, University Hospital Pitié - Salpêtrière, Paris, France, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [APHP]

المصدر: Brain, Vol. 143, No 1 (2020) pp. 303-319
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩
Brain-A Journal of Neurology, 2020, 143 (1), pp.303-319. ⟨10.1093/brain/awz377⟩

مصطلحات موضوعية: Male, MESH: Epilepsy / genetics, MESH: Neuronal Ceroid-Lipofuscinoses / diagnostic imaging, MESH: TDP-43 Proteinopathies / physiopathology, MESH: RNA Splicing / genetics, ddc:616.07, 0302 clinical medicine, MESH: Child, MESH: Cerebellar Ataxia / genetics, ddc:576.5, Age of Onset, Child, ComputingMilieux_MISCELLANEOUS, Mutation, MESH: Middle Aged, 3. Good health, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Neuronal ceroid lipofuscinosis, MESH: Parkinsonian Disorders / genetics, MESH: Cognitive Dysfunction / genetics, MESH: Young Adult, Frontotemporal Dementia, GRN, Retinitis Pigmentosa, MESH: Progranulins / metabolism, MESH: Rare Diseases, MESH: Frontotemporal Dementia / genetics, Cerebellar Ataxia, MESH: Age of Onset, RNA Splicing, 03 medical and health sciences, Parkinsonian Disorders, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Retinitis pigmentosa, Humans, Cognitive Dysfunction, MESH: Adolescent, MESH: Humans, Epilepsy, MESH: Adult, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, MESH: TDP-43 Proteinopathies / diagnostic imaging, 030104 developmental biology, FOS: Biological sciences, Neurology (clinical), MESH: Frontotemporal Dementia / physiopathology, MESH: Female, 030217 neurology & neurosurgery, 0301 basic medicine, TDP-43, medicine.disease_cause, Progranulins, MESH: Heterozygote, Genetics, Homozygote, Frontotemporal lobar degeneration, Middle Aged, MESH: Neuronal Ceroid-Lipofuscinoses / physiopathology, frontotemporal lobar degeneration, Neurons and Cognition (q-bio.NC), MESH: Parkinsonian Disorders / diagnostic imaging, MESH: TDP-43 Proteinopathies / genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, medicine.symptom, MESH: Neuronal Ceroid-Lipofuscinoses / genetics, Frontotemporal dementia, MESH: Homozygote, Adult, Progranulin, Heterozygote, MESH: Mutation, Adolescent, MESH: Parkinsonian Disorders / physiopathology, Biology, MESH: Frontotemporal Dementia / diagnostic imaging, Young Adult, Rare Diseases, Neuronal Ceroid-Lipofuscinoses, MESH: Retinitis Pigmentosa / genetics, medicine, Dementia, Quantitative Biology - Genomics, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Genomics (q-bio.GN), Cerebellar ataxia, MESH: Progranulins / genetics, Biomolecules (q-bio.BM), MESH: Male, Quantitative Biology - Biomolecules, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Quantitative Biology - Neurons and Cognition, TDP-43 Proteinopathies, Age of onset, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2606313088e1f00ce84d434e32646b88
https://pubmed.ncbi.nlm.nih.gov/33844830

المؤلفون: Mutsaerts, H. J. M. M., Mirza, S. S., Petr, J., Thomas, D. L., Cash, D. M., Bocchetta, M., De Vita, E., Metcalfe, A. W. S., Shirzadi, Z., Robertson, A. D., Tartaglia, M. C., Mitchell, S. B., Black, S. E., Freedman, M., Tang-Wai, D., Keren, R., Rogaeva, E., Van Swieten, J., Laforce, R., Tagliavini, F., Borroni, B., Galimberti, D., Rowe, J. B., Graff, C., Frisoni, G. B., Finger, E., Sorbi, S., De Mendonca, A., Rohrer, J. D., Macintosh, B. J., Masellis, M., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Binetti, G., Cosseddu, M., Dick, K. M., Fallstrom, M., Ferreira, C., Fenoglio, C., Fox, N. C., Fumagalli, G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Lombardi, G., Maruta, C., Mead, S., Meeter, L., Van Minkelen, R., Nacmias, B., Oijerstedt, L., Ourselin, S., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rossi, G., Rossor, M. N., Scarpini, E., Thonberg, H., Tiraboschi, P., Verdelho, A., Warren, J. D.

المساهمون: Rowe, James [0000-0001-7216-8679], Apollo - University of Cambridge Repository, Neurology, Amsterdam Neuroscience - Neurodegeneration, Radiology and Nuclear Medicine

المصدر: Brain, 142, 1108-1120. Oxford University Press
Brain 142(2019), 1108-1120
Brain, 142(4), 1108-1120. Oxford University Press
Mutsaerts, H J M M, Mirza, S S, Petr, J, Thomas, D L, Cash, D M, Bocchetta, M, de Vita, E, Metcalfe, A W S, Shirzadi, Z, Robertson, A D, Tartaglia, M C, Mitchell, S B, Black, S E, Freedman, M, Tang-Wai, D, Keren, R, Rogaeva, E, van Swieten, J, Laforce, R, Tagliavini, F, Borroni, B, Galimberti, D, Rowe, J B, Graff, C, Frisoni, G B, Finger, E, Sorbi, S, de Mendonça, A, Rohrer, J D, MacIntosh, B J, Masellis, M & GENetic Frontotemporal dementia Initiative (GENFI) 2019, ' Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: a GENFI study ', Brain, vol. 142, no. 4, pp. 1108-1120 . https://doi.org/10.1093/brain/awz039
Brain
Brain, Vol. 142, No 4 (2019) pp. 1108-1120

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Tau Proteins/genetics, cerebral blood flow, Gene mutation, Neuropsychological Tests, Arterial spin labelling, Frontotemporal Dementia/genetics, 0302 clinical medicine, Progranulins, C9orf72, Brain, Middle Aged, Corrigenda, Magnetic Resonance Imaging, Cerebral blood flow, Cerebrovascular Circulation, Frontotemporal Dementia, Female, arterial spin labelling, Frontotemporal dementia, Adult, medicine.medical_specialty, Heterozygote, genetic frontotemporal dementia, presymptomatic biomarker, C9orf72 Protein/genetics, tau Proteins, Progranulins/genetics, 03 medical and health sciences, Neuroimaging, mental disorders, medicine, Brain/metabolism, Dementia, Humans, Cerebral perfusion pressure, Aged, C9orf72 Protein, business.industry, Original Articles, Voxel-based morphometry, medicine.disease, arterial spin labeling, ddc:616.8, Genetic frontotemporal dementia, Presymptomatic biomarker, 030104 developmental biology, Cross-Sectional Studies, Mutation, Neurology (clinical), business, 030217 neurology & neurosurgery, Cerebrovascular Circulation/genetics

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e0ddfbe25621d6c4cf2ffae1c139b3
https://www.repository.cam.ac.uk/handle/1810/290816

المؤلفون: Emilio Di Maria, Michela Pievani, Roberta Ghidoni, Giovanni B. Frisoni, Catia Scassellati, Carlo Maj, Luisa Benussi, Alzheimer’s Disease Neuroimaging Initiative, Gaetana Lanzi, Martina Bocchetta, Edoardo Giacopuzzi, Silvia Giliani, Silvia Fostinelli, Sergio Ferraboli, Miriam Ciani, Carlo Alberto Defanti, Massimo Gennarelli, Anna Mega, Virginia Fedi, Cristian Bonvicini

المساهمون: Teipel, Stefan

المصدر: Journal of Alzheimer's disease : JAD, vol 67, iss 1
Journal of Alzheimer's Disease, Vol. 67, No 1 (2019) pp. 243-256
Journal of Alzheimer's Disease
Bonvicini, Cristian; Scassellati, Catia; Benussi, Luisa; Di Maria, Emilio; Maj, Carlo; Ciani, Miriam; et al.(2019). Next Generation Sequencing Analysis in Early Onset Dementia Patients.. Journal of Alzheimer's disease : JAD, 67(1), 243-256. doi: 10.3233/JAD-180482. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/0xf9d1xv

مصطلحات موضوعية: 0301 basic medicine, Apolipoprotein E, Male, Candidate gene, Aging, Presenilin-2/genetics, Neurodegenerative, frontotemporal dementia, 0302 clinical medicine, Prion Proteins/genetics, PSEN2, common variants, 2.1 Biological and endogenous factors, Aetiology, Age of Onset, early onset dementia, Alzheimer's Disease Related Dementias (ADRD), Genetics, next generation sequencing, Alzheimer’s disease, Lewy body dementia, common variants, early onset dementia, frontotemporal dementia, next generation sequencing, rare mutations, Dementia/genetics, General Neuroscience, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Alzheimer's disease, 3. Good health, Psychiatry and Mental health, Clinical Psychology, Neurological, Female, Cognitive Sciences, Lewy body dementia, Alzheimer’s disease, Frontotemporal dementia, Biotechnology, Research Article, Clinical Sciences, C9orf72 Protein/genetics, Late onset, Context (language use), rare mutations, Risk Assessment, Prion Proteins, PRNP, 03 medical and health sciences, Rare Diseases, Apolipoproteins E, Clinical Research, mental disorders, Presenilin-2, medicine, Acquired Cognitive Impairment, Humans, Genetic Testing, High-Throughput Nucleotide Sequencing/trends, Alleles, Genetic Association Studies, Retrospective Studies, Aged, Neurology & Neurosurgery, C9orf72 Protein, TREM2, business.industry, Human Genome, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Genetic Variation, Alzheimer’s Disease Neuroimaging Initiative, medicine.disease, Brain Disorders, 030104 developmental biology, ddc:618.97, Dementia, Geriatrics and Gerontology, business, Apolipoproteins E/genetics, 030217 neurology & neurosurgery

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2590f6e55850d59645bacc447a6acc8
https://escholarship.org/uc/item/0xf9d1xv

المؤلفون: Giraldo-Chica, Margarita, Acosta-Baena, Natalia, Urbano, Lorena, Velilla, Lina, Lopera, Francisco, Pineda, Nicolás

المصدر: Biomédica: revista del Instituto Nacional de Salud, Vol 35, Iss 4, Pp 563-71 (2015)
Biomédica, Volume: 35, Issue: 4, Pages: 563-571, Published: DEC 2015

مصطلحات موضوعية: schizophrenia, xantomatosis, demencia, lcsh:Arctic medicine. Tropical medicine, lcsh:RC955-962, lcsh:R, Xanthomatosis, lcsh:Medicine, genetics, esquizofrenia, genética, Xanthomatosis, schizophrenia, dementia, genetics, dementia

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::87a305ba23b180ae76b4f36717ba7cf0
http://www.revistabiomedica.org/index.php/biomedica/article/view/2690