المؤلفون: Emily G. Thompson, Olivia Spead, Suleyman C. Akerman, Carrie Curcio, Benjamin L. Zaepfel, Erica R. Kent, Thomas Philips, Balaji G. Vijayakumar, Anna Zacco, Weibo Zhou, Guhan Nagappan, Jeffrey D. Rothstein

المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-24 (2024)

مصطلحات موضوعية: Amyotrophic lateral sclerosis, C9orf72 repeat expansion, Dipeptide repeats, P62, NfL, GFAP, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/ef9cce1204c84ddebbb73bee8dcedf16

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, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Frontotemporal Dementia (FTD), Stem Cell Research - Induced Pluripotent Stem Cell, Dementia, Genetics, Stem Cell Research, Orphan Drug, Aging, Brain Disorders, Neurodegenerative, Acquired Cognitive Impairment, ALS, Clinical Research, Alzheimer's Disease Related Dementias (ADRD), Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell - Human, 2.1 Biological and endogenous factors, 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

URL الوصول: https://escholarship.org/uc/item/1kq6v5fw
https://escholarship.org/content/qt1kq6v5fw/qt1kq6v5fw.pdf

المؤلفون: Theresa König, Fritz Leutmezer, Thomas Berger, Alexander Zimprich, Christiane Schmied, Elisabeth Stögmann, Tobias Zrzavy

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 14, p 11254 (2023)

مصطلحات موضوعية: genetic variants, frontotemporal dementia (FTD), multiple sclerosis (MS), C9orf72 repeat expansion, intermediate repeat length, disease heterogeneity, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/14/11254; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/c86f6f585a64453197323524211df0e0

الاتاحة: https://doi.org/10.3390/ijms241411254
https://doaj.org/article/c86f6f585a64453197323524211df0e0

المؤلفون: Ghasemi, Mehdi, Keyhanian, Kiandokht, Douthwright, Catherine

المساهمون: Department of Neurology

المصدر: Cells ; 10 ; 2 ; 249

مصطلحات موضوعية: C9orf72 gene, C9orf72 repeat expansion mutation, amyotrophic lateral sclerosis (ALS), astrocytes, frontotemporal dementia (FTD), glial cells, microglia, Cells, Molecular and Cellular Neuroscience, Nervous System, Nervous System Diseases, Neurology

Relation: Link to Article in PubMed; Ghasemi M, Keyhanian K, Douthwright C. Glial Cell Dysfunction in C9orf72 -Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Cells. 2021 Jan 28;10(2):249. doi:10.3390/cells10020249. PMID: 33525344; PMCID: PMC7912327. Link to article on publisher's site; 2073-4409 (Linking); http://hdl.handle.net/20.500.14038/41741; https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5564&context=oapubs&unstamped=1; https://escholarship.umassmed.edu/oapubs/4534; oapubs/4534

الاتاحة: https://doi.org/10.3390/cells10020249
https://hdl.handle.net/20.500.14038/41741
https://escholarship.umassmed.edu/cgi/viewcontent.cgi?article=5564&context=oapubs&unstamped=1
https://escholarship.umassmed.edu/oapubs/4534

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

URL الوصول: https://escholarship.org/uc/item/3h4020ct
https://escholarship.org/content/qt3h4020ct/qt3h4020ct.pdf

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

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

مصطلحات موضوعية: Amyotrophic lateral sclerosis, C9ORF72 repeat expansion, Dipeptide repeat proteins, Drosophila, Frontotemporal dementia, Frontotemporal lobar degeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0555-8; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/7dff6ba8c98d431088d6dde5e87fa681

المؤلفون: Thompson, Emily G, Spead, Olivia, Akerman, S Can, Curcio, Carrie, Zaepfel, Benjamin L, Kent, Erica R, Philips, Thomas, Vijayakumar, Balaji G, Zacco, Anna, Zhou, Weibo, Nagappan, Guhan, Rothstein, Jeffrey D

المصدر: Res Sq ; ISSN:2693-5015

مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, C9orf72 repeat expansion, Dipeptide Repeats, GFAP, NfL, p62

Relation: https://doi.org/10.21203/rs.3.rs-5221595/v1; https://pubmed.ncbi.nlm.nih.gov/39711523; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661372/

الاتاحة: https://doi.org/10.21203/rs.3.rs-5221595/v1
https://pubmed.ncbi.nlm.nih.gov/39711523
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661372/

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

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/b85154979da4459186b95b389fbd2799

المؤلفون: Francesca Trojsi, Giulia D’Alvano, Simona Bonavita, Gioacchino Tedeschi

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 3647, p 3647 (2020)

مصطلحات موضوعية: amyotrophic lateral sclerosis, sex, gender, genetics, SOD1 mutations, C9orf72 repeat expansion, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/21/10/3647; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/16169ef2598442768a0937162301dca9

الاتاحة: https://doi.org/10.3390/ijms21103647
https://doaj.org/article/16169ef2598442768a0937162301dca9

المؤلفون: Kornélia Tripolszki, Piyush Gampawar, Helena Schmidt, Zsófia F. Nagy, Dóra Nagy, Péter Klivényi, József I. Engelhardt, Márta Széll

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: amyotrophic lateral sclerosis, oligogenic inheritance, next-generation sequencing, mutation screening, C9orf72 repeat expansion, genetic heterogeneity, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00732/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/4c1d937debbe447e9832451aa70b26f9

المؤلفون: Shi, Kevin Y., Mori, Eiichiro, Nizami, Zehra F., Lin, Yi, Kato, Masato, Xiang, Siheng, Wu, Leeju C., Ding, Ming, Yu, Yonghao, Gall, Joseph G., McKnight, Steven L.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2017 Feb . 114(7), E1111-E1117.

URL الوصول: https://www.jstor.org/stable/26479420

المؤلفون: Prado, Laura de Godoy Rousseff, Bicalho, Isabella Carolina Santos, Magalhães, Daiane, Caramelli, Paulo, Teixeira, Antônio Lúcio, Souza, Leonardo Cruz de

المصدر: Dementia & Neuropsychologia. December 2015 9(4)

مصطلحات موضوعية: amyotrophic lateral sclerosis, frontotemporal dementia, C9ORF72 repeat expansion, neuroimaging.

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1980-57642015000400413

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

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

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

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

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

الاتاحة: http://urn.fi/urn:nbn:fi-fe201706267475

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

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

الاتاحة: https://erepo.uef.fi/handle/123456789/5009

المؤلفون: Gordon, E, Rohrer, JD, Fox, NC

المصدر: Journal of Neurochemistry , 138 (S1) pp. 193-210. (2016)

مصطلحات موضوعية: Frontotemporal dementia, neuroimaging, AMYOTROPHIC-LATERAL-SCLEROSIS, NEUROFILAMENT LIGHT-CHAIN, PROGRESSIVE SUPRANUCLEAR PALSY, CEREBROSPINAL-FLUID BIOMARKERS, LOBAR DEGENERATION EPIDEMIOLOGY, ALZHEIMERS-DISEASE PATIENTS, MILD COGNITIVE IMPAIRMENT, C9ORF72 REPEAT EXPANSION, MULTIPLE-SYSTEM ATROPHY, BETA-PP-BETA

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1516773/1/Rohrer_Neuroimaging_advances_FTD_FINAL_revised2.pdf; https://discovery.ucl.ac.uk/id/eprint/1516773/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1516773/1/Rohrer_Neuroimaging_advances_FTD_FINAL_revised2.pdf
https://discovery.ucl.ac.uk/id/eprint/1516773/

المؤلفون: Dietmar Rudolf Thal, Valerie Race, Matthieu Moisse, Philip Van Damme, Evelien Van Schoor, Lieselot Dedeene, Koen Poesen, Rik Vandenberghe

المصدر: Acta Neuropathologica. 137:855-858

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Dipeptide, Transactive response DNA-binding protein 43 kDa, C9orf72 Gene, Dipeptide repeat proteins, C9orf72 repeat expansion, Biology, DNA Repeat Expansion, Amyotrophic lateral sclerosis, Spinal cord, medicine.disease, DNA-binding protein, Pathology and Forensic Medicine, Clinical neurology, C9orf72 Protein, Cellular and Molecular Neuroscience, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, medicine, Neurology (clinical)

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c024c559a7ab4666500f03532d87a2
https://doi.org/10.1007/s00401-019-01996-z

المؤلفون: Westeneng, Henk-Jan

المساهمون: Projectafdeling ALS, van den Berg, Leonard, Veldink, Jan

مصطلحات موضوعية: Amyotrophic lateral sclerosis, magnetic resonance imaging, connectome, magnetic resonance spectroscopic imaging, epidemiology, prediction, genetics, trial design, C9orf72 repeat expansion, Stephen Hawking

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/456187

الاتاحة: https://dspace.library.uu.nl/handle/1874/456187

المؤلفون: Kiandokht Keyhanian, Mehdi Ghasemi, Catherine Douthwright

المصدر: Cells, Vol 10, Iss 249, p 249 (2021)
Cells

مصطلحات موضوعية: amyotrophic lateral sclerosis (ALS), C9orf72 gene, microglia, Review, Biology, C9orf72 repeat expansion mutation, C9orf72, medicine, Humans, Amyotrophic lateral sclerosis, lcsh:QH301-705.5, Loss function, Inflammation, C9orf72 Protein, Microglia, Amyotrophic Lateral Sclerosis, frontotemporal dementia (FTD), astrocytes, General Medicine, medicine.disease, glial cells, medicine.anatomical_structure, Gliosis, lcsh:Biology (General), Frontotemporal Dementia, Mutation, medicine.symptom, Trinucleotide repeat expansion, Haploinsufficiency, Neuroglia, Neuroscience, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bab7d90f46be7051f12a9d9dd6255c1
https://www.mdpi.com/2073-4409/10/2/249

المؤلفون: Annan, Mariam, Beaufils, Émilie, Viola, Ursule-Catherine, Vourc'H, Patrick, Hommet, Caroline, Mondon, Karl

المساهمون: Service de Neurologie Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centres Mémoire de Ressources et de Recherche (CMRR), Service de Gériatrie, Service de Biochimie et Biologie Moléculaire, Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1756-0500 ; BMC Research Notes ; https://inserm.hal.science/inserm-00871180 ; BMC Research Notes, 2013, 6 (1), pp.343. ⟨10.1186/1756-0500-6-343⟩.

مصطلحات موضوعية: C9ORF72 repeat expansion, Parkinson's disease, Cognition, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/23987827; inserm-00871180; https://inserm.hal.science/inserm-00871180; https://inserm.hal.science/inserm-00871180/document; https://inserm.hal.science/inserm-00871180/file/1756-0500-6-343.pdf; PUBMED: 23987827

الاتاحة: https://inserm.hal.science/inserm-00871180
https://inserm.hal.science/inserm-00871180/document
https://inserm.hal.science/inserm-00871180/file/1756-0500-6-343.pdf
https://doi.org/10.1186/1756-0500-6-343