نتائج البحث - "C9ORF72 repeat expansion"

1

دورية أكاديمية

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

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

View record in eScholarship

2

Cortical markers of cognitive syndromes in amyotrophic lateral sclerosis

المؤلفون: Eleonora Dalla Bella, Viviana Pensato, Valeria Elisa Contarino, Stefano F. Cappa, Cinzia Gellera, Giuseppe Lauria, Monica Consonni, Eleonora Catricalà

المصدر: NeuroImage : Clinical
NeuroImage: Clinical, Vol 19, Iss, Pp 675-682 (2018)

مصطلحات موضوعية: Male, FTD, frontotemporal dementia, Neuropsychological Tests, lcsh:RC346-429, CT, cortical thickness, 0302 clinical medicine, Neuropsychological assessment, Amyotrophic lateral sclerosis, Cognitive impairment, Cerebral Cortex, medicine.diagnostic_test, 05 social sciences, Neurodegeneration, Cognition, Regular Article, Cognitive profiles, Middle Aged, ALS, amyotrophic lateral sclerosis, HC, healthy control, Magnetic Resonance Imaging, Neurology, ALSimp, ALS with cognitive and/or behavioural impairment, lcsh:R858-859.7, Female, Frontotemporal dementia, Temporal lobe, MD, multi-domain, Cognitive Neuroscience, lcsh:Computer applications to medicine. Medical informatics, 050105 experimental psychology, Cortical thickness, 03 medical and health sciences, C9– ALS, ALS without C9orf repeat expansion, medicine, ALScn, cognitively-normal ALS, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, lcsh:Neurology. Diseases of the nervous system, ALSbi, ALS with mild behavioural impairment, Aged, C9+ ALS, ALS harbouring C9orf72 repeat expansion, business.industry, Amyotrophic Lateral Sclerosis, Magnetic resonance imaging, GM, grey matter, medicine.disease, ALSci, ALS with mild cognitive impairment, Neurology (clinical), Atrophy, business, Cognition Disorders, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef938d75968ffbe2f4d5f8370fc9c985Test
http://europepmc.org/articles/PMC6046611Test

3

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

المؤلفون: Olli Pietilainen, Rosa Rademakers, Dennis W. Dickson, Nancy M. Bonini, Lindsey D. Goodman, Kaitavjeet Chowdhary, Leonard Petrucelli, Joseph R. Klim, Mercedes Prudencio, Daniel A. Mordes, Francesco Limone, Rob Moccia, Kevin Eggan

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-13 (2018)
Acta Neuropathologica Communications
Acta neuropathologica communications

مصطلحات موضوعية: Male, 0301 basic medicine, Dipeptide repeat proteins, Neural degeneration, Eye, lcsh:RC346-429, Cohort Studies, Heat Shock Transcription Factors, C9orf72, Gene expression, HSF1, Neurons, Heat shock response, DNA Repeat Expansion, Stem Cells, Brain, Dipeptides, Frontotemporal lobar degeneration, 3. Good health, Cell biology, Female, Drosophila, Frontotemporal dementia, Signal Transduction, Biology, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Heat shock protein, Glial Fibrillary Acidic Protein, medicine, Animals, Humans, Heat shock, lcsh:Neurology. Diseases of the nervous system, C9orf72 Protein, C9ORF72 repeat expansion, Research, fungi, Amyotrophic lateral sclerosis, medicine.disease, Disease Models, Animal, 030104 developmental biology, Gene Expression Regulation, Human medicine, Neurology (clinical), Trinucleotide repeat expansion, Heat-Shock Response

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca82577fa5b788d69c11e67737f76856Test
https://doi.org/10.1186/s40478-018-0555-8Test

4

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

المؤلفون: Silvia Piras, Rocco Liguori, Patrizia De Massis, Sabina Capellari, Federico Oppi, Annalisa Pession, Anna Bartoletti-Stella, Elena Pasini, Michelangelo Stanzani-Maserati, Maria Pia Giannoccaro, Piero Parchi, Simone Baiardi, Patrizia Avoni

المساهمون: Giannoccaro, Maria Pia, Bartoletti-Stella, Anna, Piras, Silvia, Pession, Annalisa, De Massis, Patrizia, Oppi, Federico, Stanzani-Maserati, Michelangelo, Pasini, Elena, Baiardi, Simone, Avoni, Patrizia, Parchi, Piero, Liguori, Rocco, Capellari, Sabina, DIPARTIMENTO DI FARMACIA E BIOTECNOLOGIE, DIPARTIMENTO DI MEDICINA SPECIALISTICA, DIAGNOSTICA E SPERIMENTALE, DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE, Facolta' di MEDICINA e CHIRURGIA, AREA MIN. 06 - Scienze mediche, Da definire

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Multifactorial Inheritance, Pedigree chart, Biology, Severity of Illness Index, TARDBP, 03 medical and health sciences, Superoxide Dismutase-1, 0302 clinical medicine, C9orf72, mental disorders, medicine, Humans, Family, Amyotrophic lateral sclerosis, Aged, Genetics, DNA Repeat Expansion, TYROBP, C9orf72 Protein, Parkinsonism, Amyotrophic Lateral Sclerosis, ALS, C9orf72 repeat expansion, FTD, Oligogenic, Neurology, Neurology (clinical), Middle Aged, medicine.disease, Phenotype, nervous system diseases, DNA-Binding Proteins, 030104 developmental biology, Frontotemporal Dementia, RNA-Binding Protein FUS, Female, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f58fb4e70a5e4c7b5606b88112a53788Test
http://hdl.handle.net/11585/615823Test

5

The Unexpected Co-Occurrence of GRN and MAPT p.A152T in Basque Families: Clinical and Pathological Characteristics

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

6

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

المساهمون: Human genetics, Neurology, Epidemiology and Data Science, Psychiatry, Pathology, EMGO - Musculoskeletal health, NCA - Neurodegeneration, EMGO+ - Musculoskeletal Health, Neuroscience Campus Amsterdam - Neurodegeneration, Urologie, Genetica & Celbiologie, Family Medicine, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Radiology & Nuclear Medicine

المصدر: Brain, 135, 723-35
Brain, 163(3), 723-735. Oxford University Press
Simon-Sanchez, J, Dopper, E G P, Hokke, P E, Hukema, R K, Nicolaou, N, Seelaar, H, van Schoor, N M, Deeg, D J H, Rozemuller, J M, Pijnenburg, Y A L, Heutink, P & van Swieten, J C 2012, ' The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions ', Brain, vol. 163, no. 3, pp. 723-735 . https://doi.org/10.1093/brain/awr353Test
Brain, 135, Pt 3, pp. 723-35
Brain, 135, 723-735. Oxford University Press
Brain, 135(3), 723-735. Oxford University Press

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, tau Proteins, Tissue Banks, Biology, Neuropsychological Tests, Polymerase Chain Reaction, Primary progressive aphasia, Cohort Studies, Progranulins, SDG 3 - Good Health and Well-being, C9orf72, medicine, Humans, Amyotrophic lateral sclerosis, Age of Onset, In Situ Hybridization, Aged, Netherlands, Aged, 80 and over, Neurons, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Proteins, Frontotemporal lobar degeneration, C9orf72 repeat expansion, Middle Aged, medicine.disease, Immunohistochemistry, Pedigree, DNA-Binding Proteins, frontotemporal lobar degeneration, Frontotemporal Dementia, Intercellular Signaling Peptides and Proteins, Female, Neurology (clinical), Autopsy, Trinucleotide repeat expansion, Quality of hospital and integrated care [NCEBP 4], Frontotemporal dementia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fd49413089d64c54e82b98b64c3005Test
https://doi.org/10.1093/brain/awr353Test

7

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

المصدر: Acta neuropathologica 130(4), 559-573 (2015). doi:10.1007/s00401-015-1474-4
Acta neuropathologica, vol 130, iss 4
Acta neuropathologica
Acta Neuropathologica

مصطلحات موضوعية: Male, Pathology, Cerebellum, complications [Motor Neuron Disease], Messenger, Hippocampus, Dipeptide repeat proteins, metabolism [Hippocampus], genetics [Cognition Disorders], pathology [Frontal Lobe], Cohort Studies, Cognition, C9orf72, complications [Frontotemporal Dementia], 80 and over, pathology [Cerebellum], Amyotrophic lateral sclerosis, genetics [Frontotemporal Dementia], Aged, 80 and over, DNA Repeat Expansion, pathology [Motor Cortex], Motor Cortex, Frontotemporal lobar degeneration, metabolism [Cerebellum], Middle Aged, 3. Good health, Frontal Lobe, metabolism [Motor Neuron Disease], genetics [Amyotrophic Lateral Sclerosis], metabolism [Frontal Lobe], medicine.anatomical_structure, Frontotemporal Dementia, metabolism [Frontotemporal Dementia], complications [Amyotrophic Lateral Sclerosis], Female, genetics [Motor Neuron Disease], Frontotemporal dementia, metabolism [Motor Cortex], medicine.medical_specialty, complications [Cognition Disorders], Heterozygote, pathology [Motor Neuron Disease], Neuropathological diagnosis, Clinical Sciences, Clinical Neurology, Chromosome 9, and over, metabolism [RNA, Messenger], Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, metabolism [Cognition Disorders], medicine, Humans, ddc:610, RNA, Messenger, Motor Neuron Disease, pathology [Amyotrophic Lateral Sclerosis], Aged, c9RAN proteins, Original Paper, Neurology & Neurosurgery, C9orf72 Protein, business.industry, C9ORF72 repeat expansion, metabolism [Amyotrophic Lateral Sclerosis], Amyotrophic Lateral Sclerosis, Neurosciences, Proteins, Repeat-associated non-ATG translation, medicine.disease, genetics [Proteins], pathology [Hippocampus], Protein Biosynthesis, pathology [Frontotemporal Dementia], RNA, pathology [Cognition Disorders], Neurology (clinical), Human medicine, C9orf72 protein, human, Trinucleotide repeat expansion, business, Cognition Disorders

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d1173437018c5dd2b28186873ccc666Test

8

دورية أكاديمية

C9ORF72 repeat expansion not detected in patients with multiple sclerosis

المؤلفون: C. Fenoglio, M. De Riz, M. Serpente, E. Ridolfi, R. Bonsi, A. Pietroboni, A. Calvi, E. Scarpini, D. Galimberti, C. Villa, S. M. G. Cioffi, C. Barone

المساهمون: C. Fenoglio, M. De Riz, C. Villa, M. Serpente, E. Ridolfi, R. Bonsi, S.M.G. Cioffi, C. Barone, A. Pietroboni, A. Calvi, E. Scarpini, D. Galimberti

مصطلحات موضوعية: C9ORF72 repeat expansion, Multiple sclerosi, Neurodegeneration, Adult, Aged, Amyotrophic Lateral Sclerosi, Female, Frontotemporal Lobar Degeneration, Human, Male, Middle Aged, Protein, DNA Repeat Expansion, Neurology (clinical), Neuroscience (all), Aging, Developmental Biology, Geriatrics and Gerontology, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24355526; info:eu-repo/semantics/altIdentifier/wos/WOS:000332308300031; volume:35; issue:5; firstpage:1213; lastpage:e2; journal:NEUROBIOLOGY OF AGING; http://hdl.handle.net/2434/249365Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84893761667

الإتاحة: https://doi.org/10.1016/j.neurobiolaging.2013.10.096Test
http://hdl.handle.net/2434/249365Test

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