المؤلفون: Cali, Christopher P, Patino, Maribel, Tai, Yee Kit, Ho, Wan Yun, McLean, Catriona A, Morris, Christopher M, Seeley, William W, Miller, Bruce L, Gaig, Carles, Vonsattel, Jean Paul G, White, Charles L, Roeber, Sigrun, Kretzschmar, Hans, Troncoso, Juan C, Troakes, Claire, Gearing, Marla, Ghetti, Bernardino, Van Deerlin, Vivianna M, Lee, Virginia M-Y, Trojanowski, John Q, Mok, Kin Y, Ling, Helen, Dickson, Dennis W, Schellenberg, Gerard D, Ling, Shuo-Chien, Lee, Edward B

المصدر: Acta Neuropathologica. 138(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Genetics, Rare Diseases, Acquired Cognitive Impairment, Aging, Brain Disorders, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), ALS, Neurodegenerative, Alzheimer's Disease Related Dementias (ADRD), Frontotemporal Dementia (FTD), Dementia, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alzheimer Disease, Amyotrophic Lateral Sclerosis, Autophagy, Basal Ganglia Diseases, Brain, C9orf72 Protein, Frontotemporal Dementia, Humans, Neurodegenerative Diseases, Parkinson Disease, Parkinsonian Disorders, Neurodegeneration, Corticobasal degeneration, C9orf72 repeat expansion, Parkinsonism, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1kq6v5fwTest

المؤلفون: Gendron, Tania F, van Blitterswijk, Marka, Bieniek, Kevin F, Daughrity, Lillian M, Jiang, Jie, Rush, Beth K, Pedraza, Otto, Lucas, John A, Murray, Melissa E, Desaro, Pamela, Robertson, Amelia, Overstreet, Karen, Thomas, Colleen S, Crook, Julia E, Castanedes-Casey, Monica, Rousseau, Linda, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Boeve, Bradley F, Graff-Radford, Neill R, Rademakers, Rosa, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W, Dickson, Dennis W, Petrucelli, Leonard, Boylan, Kevin B

المصدر: Acta Neuropathologica. 130(4)

مصطلحات موضوعية: Genetics, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), Brain Disorders, Neurodegenerative, Rare Diseases, Clinical Research, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, ALS, Neurosciences, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, C9orf72 Protein, Cerebellum, Cognition Disorders, Cohort Studies, DNA Repeat Expansion, Female, Frontal Lobe, Frontotemporal Dementia, Heterozygote, Hippocampus, Humans, Male, Middle Aged, Motor Cortex, Motor Neuron Disease, Protein Biosynthesis, Proteins, RNA, Messenger, Amyotrophic lateral sclerosis, C9ORF72 repeat expansion, c9RAN proteins, Cognition, Dipeptide repeat proteins, Frontotemporal dementia, Frontotemporal lobar degeneration, Neuropathological diagnosis, Repeat-associated non-ATG translation, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3h4020ctTest

المؤلفون: Moreno Izco, Fermín, Indakoetxea Juanbeltz, Begoña, Barandiaran Amillano, Miryam, Caballero, María Cristina, Gorostidi, Ana, Calafell, Francesc, Gabilondo, Alazne, Tainta, Mikel, Zulaica, Miren, Martí Massó, José Félix, López de Munain Arregui, Adolfo José, Sánchez Juan, Pascual, Lee, Suzee E.

مصطلحات موضوعية: frontotemporal lobar degeneration, C9orf72 repeat expansion, alzheimers-disease, progranulin mutation, dementia, Tau, variant, phenotypes, haplotype, spectrum

وصف الملف: application/pdf

العلاقة: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178093Test; Plos One 12(6) : (2017) // Article ID e0178093; http://hdl.handle.net/10810/32666Test

الإتاحة: https://doi.org/10.1371/journal.pone.0178093Test
http://hdl.handle.net/10810/32666Test

المؤلفون: Korhonen, V. E. (V. E.), Solje, E. (E.), Suhonen, N. M. (N. M.), Rauramaa, T. (T.), Vanninen, R. (R.), Remes, A. M. (A. M.), Leinonen, V. (V.)

مصطلحات موضوعية: C9ORF72 repeat expansion, CSF shunt, Dementia, Idiopathic normal pressure hydrocephalus, Neurodegeneration

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/eissn/2045-8118

الإتاحة: http://urn.fi/urn:nbn:fi-fe201706267475Test

المؤلفون: Korhonen VE, Solje E, Suhonen NM, Rauramaa T, Vanninen R, Remes AM, Leinonen V

المساهمون: School of Medicine / Clinical Medicine

مصطلحات موضوعية: C9ORF72 repeat expansion, CSF shunt, Dementia, Idiopathic normal pressure hydrocephalus, Neurodegeneration

العلاقة: Fluids and barriers of the CNS; http://dx.doi.org/10.1186/s12987-017-0060-7Test; 10; 14; https://erepo.uef.fi/handle/123456789/5009Test

الإتاحة: https://doi.org/10.1186/s12987-017-0060-7Test
https://erepo.uef.fi/handle/123456789/5009Test

المؤلفون: V. E. Korhonen, E. Solje, N. M. Suhonen, T. Rauramaa, R. Vanninen, A. M. Remes, V. Leinonen

المصدر: Fluids and Barriers of the CNS, Vol 14, Iss 1, Pp 1-5 (2017)

مصطلحات موضوعية: C9ORF72 repeat expansion, CSF shunt, Dementia, Idiopathic normal pressure hydrocephalus, Neurodegeneration, Neurology. Diseases of the nervous system, RC346-429

العلاقة: http://link.springer.com/article/10.1186/s12987-017-0060-7Test; https://doaj.org/toc/2045-8118Test; https://doaj.org/article/b85154979da4459186b95b389fbd2799Test

الإتاحة: https://doi.org/10.1186/s12987-017-0060-7Test
https://doaj.org/article/b85154979da4459186b95b389fbd2799Test

المؤلفون: Wan Yun Ho, Claire Troakes, Edward B. Lee, Hans A. Kretzschmar, Charles L. White, Virginia M.-Y. Lee, Helen Ling, Christopher P. Cali, Catriona McLean, Jean Paul Vonsattel, Bernardino Ghetti, Juan C. Troncoso, Gerard D. Schellenberg, Shuo-Chien Ling, Kin Y. Mok, Maribel Patino, John Q. Trojanowski, Sigrun Roeber, William W. Seeley, Dennis W. Dickson, Vivianna M. Van Deerlin, Bruce L. Miller, Marla Gearing, Carles Gaig, Yee Kit Tai, Christopher Morris

المصدر: Acta Neuropathol
Acta neuropathologica, vol 138, iss 5

مصطلحات موضوعية: 0301 basic medicine, Aging, Neurodegenerative, 0302 clinical medicine, C9orf72, Corticobasal degeneration, 2.1 Biological and endogenous factors, Aetiology, Alzheimer's Disease Related Dementias (ADRD), biology, Neurodegeneration, Brain, Neurodegenerative Diseases, Parkinson Disease, Frontotemporal Dementia (FTD), Frontotemporal Dementia, Neurological, Frontotemporal dementia, Tau protein, Clinical Sciences, Parkinsonism, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Rare Diseases, Basal Ganglia Diseases, Parkinsonian Disorders, Alzheimer Disease, Microsatellite Repeat, medicine, Genetics, Acquired Cognitive Impairment, Autophagy, Humans, Neurology & Neurosurgery, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), C9orf72 repeat expansion, medicine.disease, Stem Cell Research, Brain Disorders, 030104 developmental biology, biology.protein, Cancer research, Dementia, Neurology (clinical), ALS, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14283fde8ad6c16a3b17c598a6bc1ab7Test
https://pubmed.ncbi.nlm.nih.gov/31327044Test

المؤلفون: Mikel Tainta, Begoña Indakoetxea, Fermin Moreno, Adolfo López de Munain, Miren Zulaica, Maria Cristina Caballero, Pascual Sánchez-Juan, Suzee E. Lee, Myriam Barandiaran, Alazne Gabilondo, Ana Gorostidi, Francesc Calafell, José Félix Martí Massó

المساهمون: Dermaut, Bart

المصدر: Addi. Archivo Digital para la Docencia y la Investigación
instname
PLoS ONE, Vol 12, Iss 6, p e0178093 (2017)
PLoS ONE
PloS one, vol 12, iss 6
Recercat. Dipósit de la Recerca de Catalunya

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, tau Proteins/genetics, Cytoplasm, Linkage disequilibrium, Mutation rate, haplotype, Heredity, Social Sciences, Neurodegenerative, Neuropsychological Tests, Alzheimer's Disease, medicine.disease_cause, Hippocampus, spectrum, Primary progressive aphasia, Frontotemporal Dementia/pathology, Progranulins, 0302 clinical medicine, Mutation Rate, Medicine and Health Sciences, 2.1 Biological and endogenous factors, Psychology, Aetiology, alzheimers-disease, Genetics, Cytoplasmic Inclusions, Multidisciplinary, TDP-43 protein, human, phenotypes, Brain, Neurodegenerative Diseases, Frontotemporal lobar degeneration, Middle Aged, Amygdala, progranulin mutation, Immunohistochemistry, DNA-Binding Proteins, Frontotemporal Dementia (FTD), Genetic Mapping, Phenotype, Neurology, frontotemporal lobar degeneration, Frontotemporal Dementia, Neurological, Intercellular Signaling Peptides and Proteins, Medicine, Female, Cellular Structures and Organelles, Anatomy, Research Article, Frontotemporal dementia, Intercellular Signaling Peptides and Proteins/genetics, Mutation/genetics, General Science & Technology, Science, MAPT protein, human, tau Proteins, Biology, 03 medical and health sciences, Rare Diseases, tau Proteins/metabolism, Clinical Research, Alzheimer Disease, Neuropsychology, Mental Health and Psychiatry, Acquired Cognitive Impairment, medicine, Humans, Dementia, Family, Demography, Haplotype, Neurosciences, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Biology and Life Sciences, Cell Biology, C9orf72 repeat expansion, medicine.disease, Brain Disorders, 030104 developmental biology, Haplotypes, variant, Spain, Mutation, GRN protein, human, Tau, 030217 neurology & neurosurgery, Neuroscience, dementia

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9f3f3b0b015cde40cc6d9919310ee57Test
http://hdl.handle.net/10810/32666Test

المؤلفون: König, Theresa

مصطلحات موضوعية: Genetik, Demenz, Neurodegenerative Erkrankungen, Alzheimer, Frontotemporale Demenz, C9orf72 repeat expansion, Exom Sequenzierung, Genetics, Dementia, Neurodegenerative diseases, Alzheimer's disease, Frontotemporal dementia, Whole exome sequencing

جغرافية الموضوع: UMW:14632

وصف الملف: xvi, 178 Seiten; text/html

العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:1-48714/128Test; urn:nbn:at:at-ubmuw:1-48714; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:1-48714Test; local:99146996241003331; system:AC16667972

الإتاحة: https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:1-48714Test