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

وصف الملف: application/pdf

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

المؤلفون: Jan De Bleecker, Sara Van Mossevelde, Peter Paul De Deyn, R. Crols, Olivier Deryck, Jonathan Baets, Ludo Vanopdenbosch, Patrick Cras, Jean Delbeck, Rudy Mercelis, Adrian Ivanoiu, Lubina Dillen, Julie van der Zee, Sebastiaan Engelborghs, Christine Van Broeckhoven, Patrick Santens, Peter De Jonghe, Rik Vandenberghe, Anne Sieben, Hung Phuoc Nguyen, Matthieu Moisse, Philip Van Damme

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Pathologic Biochemistry and Physiology, BELNEU Consortium

المصدر: Neurobiology of aging, Vol. 61, p. 255.e1-255.e7 (2018)
Neurobiology of aging

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, NIMA-Related Kinase 1/genetics, Frontotemporal dementia (FTD), Loss of Function Mutation/genetics, Cohort Studies, NIMA-related kinase 1, Frontotemporal Dementia/genetics, 0302 clinical medicine, Belgium, Gene Frequency, Loss of Function Mutation, Missense mutation, Amyotrophic lateral sclerosis (ALS), Amyotrophic lateral sclerosis, risk, Genetics, Medicine(all), General Neuroscience, Amyotrophic Lateral Sclerosis/genetics, Middle Aged, Penetrance, NEK1, Genetic Variation/genetics, Frontotemporal Dementia, Cohort, Cohort studies, Female, Frontotemporal dementia, Risk, Neuroscience(all), Clinical Neurology, Biology, 03 medical and health sciences, Genetic variation, medicine, Humans, Allele frequency, Genetic Association Studies, Aged, Amyotrophic Lateral Sclerosis, Genetic Variation, medicine.disease, Minor allele frequency, Ageing, 030104 developmental biology, Human medicine, Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery, Developmental Biology

وصف الملف: pdf; Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b46265fa178fdf64bc22fe61edb1ed
https://hdl.handle.net/2078.1/221796

المؤلفون: Juan Fortea, Marc Cruts, Tobi Van den Bossche, Jan Versijpt, Alessandro Padovani, Luisa Benussi, Roberta Ghidoni, Alexandre de Mendonça, Elena Lorenzo, Manuel Seijo-Martínez, Jaume Campdelacreu, Sandro Sorbi, Radoslav Matej, Peter Paul De Deyn, Panagiotis Alexopoulos, Olivier Deryck, Albert Lladó, Pau Pastor, Frederico Simões do Couto, Rik Vandenberghe, Estrella Gómez-Tortosa, Zdenek Rohan, Jordi Clarimón, Anne Sieben, Jordi Gascon, Isabel Santana, Maria A. Pastor, Maria Koutroumani, Madalena Martins, Sebastiaan Engelborghs, Janine Diehl-Schmid, Christine Van Broeckhoven, Benedetta Nacmias, Patrick Santens, Lubina Dillen, Ilse Gijselinck, Giuliano Binetti, Silvia Bagnoli, Bruno Bergmans, Agustín Ruiz, Raquel Sánchez-Valle, Barbara Borroni, Maria Rosário Almeida, Kristel Sleegers, Ellen Gelpi, Adrian Ivanoiu, Bavo Heeman, Cristina Razquin, Magda Tsolaki, Elena Iglesias, Caroline Graff, Johan Goeman, Alberto Lleó, Valentina Bessi, Laura Fratiglioni, Jan Verheijen, Alex Michotte, Jan De Bleecker, Rafael Blesa, Julie van der Zee, Eric Salmon, Ramón Reñé, Dirk Nuytten, Mathieu Vandenbulcke, Bart Dermaut, Håkan Thonberg, Christiana Willems

المساهمون: BELNEU Consortium, EU EOD Consortium, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Clinical sciences, Neurology, Pathologic Biochemistry and Physiology

المصدر: Neurobiology of Aging
Neurobiology of aging, Vol. 62, p. 245.e1-245.e7 (2018)
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Aging, TBK1, Early onset Alzheimer's disease, Frontotemporal dementia, Loss-of-function, RNA sequencing, Neuroscience (all), Neurology (clinical), Developmental Biology, Geriatrics and Gerontology, Disease, Bioinformatics, medicine.disease_cause, AMYOTROPHIC-LATERAL-SCLEROSIS, Loss of Function Mutation/genetics, Cohort Studies, Frontotemporal Dementia/genetics, 0302 clinical medicine, Loss of Function Mutation, Medicine and Health Sciences, Early-onset Alzheimer's disease, Family history, Amyotrophic lateral sclerosis, Medicine(all), Mutation, General Neuroscience, Homozygote, Amyotrophic Lateral Sclerosis/genetics, Middle Aged, Protein-Serine-Threonine Kinases, 3. Good health, ddc, Europe, Genetic Variation/genetics, Frontotemporal Dementia, Cohort, Female, Risk, medicine.medical_specialty, Heterozygote, BINDING KINASE 1, Protein-Serine-Threonine Kinases/genetics, Neuroscience(all), Clinical Neurology, IMMUNITY, Biology, Protein Serine-Threonine Kinases, 03 medical and health sciences, Early onset Alzheimer’s disease, Alzheimer Disease, Internal medicine, medicine, Humans, BELGIAN COHORT, Loss function, Alleles, Genetic Association Studies, Aged, Alzheimer Disease/genetics, MUTATIONS, Amyotrophic Lateral Sclerosis, Biology and Life Sciences, Genetic Variation, medicine.disease, Ageing, 030104 developmental biology, Human medicine, 030217 neurology & neurosurgery

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ed5857598d419a89a3fe6fb32883e4
http://hdl.handle.net/2158/1107096

المؤلفون: Mathieu Vandenbulcke, Anne Sieben, Jonathan Baets, Rik Vandenberghe, Jan Versijpt, Christiana Willems, Olivier Deryck, Dirk Nuytten, Alex Michotte, Matthieu Moisse, Katrien Smets, Philip Van Damme, Jan De Bleecker, Jean Delbeck, Federica Perrone, Adrian Ivanoiu, Julie van der Zee, Eric Salmon, Sara Van Mossevelde, Jean-Jacques Martin, Christine Van Broeckhoven, Patrick Santens, Peter Paul De Deyn, Sebastiaan Engelborghs, Peter De Jonghe, Patrick Cras, Hung Phuoc Nguyen, Bruno Bergmans, Marc Bruyland

المساهمون: Belgian Neurology Consortium, Clinical sciences, Neurology, Physiotherapy, Human Physiology and Anatomy, Pathologic Biochemistry and Physiology

المصدر: Neurobiology of aging

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Frontotemporal Dementia/genetics, 0302 clinical medicine, Belgium, C9orf72, Tubulin, Missense mutation, Amyotrophic lateral sclerosis, Genetics, Medicine(all), education.field_of_study, General Neuroscience, Amyotrophic Lateral Sclerosis/genetics, Middle Aged, 3. Good health, Frontotemporal Dementia, Mitochondrial Proteins/genetics, Cohort studies, Female, Frontotemporal dementia, Neuroscience(all), Nonsense mutation, Population, Clinical Neurology, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, mental disorders, medicine, Humans, education, Biology, Genetic Association Studies, Aged, business.industry, Amyotrophic Lateral Sclerosis, medicine.disease, nervous system diseases, Ageing, 030104 developmental biology, Neurology (clinical), Human medicine, Geriatrics and Gerontology, mutation, Trinucleotide repeat expansion, business, aged, 80 and over, 030217 neurology & neurosurgery, Developmental Biology, Tubulin/genetics

وصف الملف: pdf; Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8de458a4ea49707c85753bb5e49999a
https://repository.uantwerpen.be/docman/irua/f8279d/140638_2018_02_24.pdf

المؤلفون: Andreas Hermann, Markus Donix, Robert Haussmann, Marek Wysocki, Moritz D. Brandt

المصدر: International psychogeriatrics 29(5), 869-871 (2016). doi:10.1017/S1041610216002192

مصطلحات موضوعية: 0301 basic medicine, Parkinson's disease, MAPT protein, human, tau Proteins, Disease, Bioinformatics, genetics [Chromosomes, Human, Pair 17], 03 medical and health sciences, 0302 clinical medicine, Mutation Carrier, Medicine, Dementia, Humans, ddc:610, Frontotemporale Demenz, Demenz, Genetik, Parkinson-Krankheit, genetics [Frontotemporal Dementia], business.industry, Parkinsonism, Middle Aged, medicine.disease, Pedigree, Chromosome 17 (human), genetics [tau Proteins], Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Frontotemporal Dementia, Mutation (genetic algorithm), Mutation, Female, frontotemporal dementia, dementia, genetics, Parkinson’s disease, Geriatrics and Gerontology, business, Gerontology, 030217 neurology & neurosurgery, Frontotemporal dementia, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ec7e6203af528bbc84010de1d807ea
https://pubmed.ncbi.nlm.nih.gov/27905268