المؤلفون: Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L, Collins, Ryan L, Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Jerez, Pilar Alvarez, Malik, Laksh, Dawson, Ted M, Rosenthal, Liana S, Albert, Marilyn S, Pletnikova, Olga, Troncoso, Juan C, Masellis, Mario, Keith, Julia, Black, Sandra E, Ferrucci, Luigi, Resnick, Susan M, Tanaka, Toshiko, Soltis, Anthony R, Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, Martinez, Elisa McGrath, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N, Adeleye, Adelani, Wilkerson, Matthew D, Pollard, Harvey B, Dalgard, Clifton L, Gan-Or, Ziv, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A, Hodges, Angela K, Love, Seth, McKeith, Ian G, Morris, Christopher M, Morris, Huw R, Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J, Troakes, Claire, Barrett, Matthew J, Beach, Thomas G, Bekris, Lynn M, Bennett, David A, Boeve, Bradley F, Dickson, Dennis W, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E, Foroud, Tatiana M, Ghetti, Bernardino, Gibbs, J Raphael

المصدر: Cell Genomics. 3(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Brain Disorders, Dementia, ALS, Rare Diseases, Neurodegenerative, Neurosciences, Human Genome, Frontotemporal Dementia (FTD), Alzheimer's Disease, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Aging, Aetiology, 2.1 Biological and endogenous factors, Neurological, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Lewy body dementia, amyotrophic lateral sclerosis, case-control study, frontotemporal dementia, genome-wide association study, non–Alzheimer's dementia, resource, structural variant

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/93p4m5vvTest

المؤلفون: Francesca Luisa Conforti, Alan Edward Renton, Henry Houlden

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: C9ORF72 ALS/FTD, FTD (frontotemporal dementia), ALS (amyotrophic lateral sclerosis), miRNA, microRNA, missence variant, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1420029/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/482d8b8c4fb340e8aa3b76eec13baad3Test

المؤلفون: Hamidreza Jafarinia, Erik van der Giessen, Patrick R Onck

المصدر: eLife, Vol 12 (2024)

مصطلحات موضوعية: C9orf72, ALS/FTD, nuclear pore complex, nucleocytoplasmic transport, importins/exportins, molecular dynamics, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/89694Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/fa2d8956aaca44549300cf73039c7270Test

المؤلفون: Au, Wing Hei

المساهمون: Whitworth, Alexander J.

مصطلحات موضوعية: ALS/FTD, C9orf72, Mitochondria

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.871832Test

المؤلفون: Godoy-Corchuelo, Juan M, Ali, Zeinab, Brito Armas, Jose M, Martins-Bach, Aurea B, García-Toledo, Irene, Fernández-Beltrán, Luis C, López-Carbonero, Juan I, Bascuñana, Pablo, Spring, Shoshana, Jimenez-Coca, Irene, Muñoz de Bustillo Alfaro, Ramón A, Sánchez-Barrena, Maria J, Nair, Remya R, Nieman, Brian J, Lerch, Jason P, Miller, Karla L, Ozdinler, Hande P, Fisher, Elizabeth MC, Cunningham, Thomas J, Acevedo-Arozena, Abraham, Corrochano, Silvia

المصدر: Neurobiology of Disease , 193 , Article 106437. (2024)

مصطلحات موضوعية: ALS-FTD, Cognitive alterations, Development, Motor disturbances, TDP-43, TDP-43 Proteinopathies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10188823/1/1-s2.0-S096999612400055X-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10188823Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10188823/1/1-s2.0-S096999612400055X-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10188823Test/

المؤلفون: FENG Yiyuan, XU Zhongyun, YIN Yafu, WANG Hui, CHENG Weiwei

المصدر: Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 43, Iss 7, Pp 839-847 (2023)

مصطلحات موضوعية: c9orf72 amyotrophic lateral sclerosis/ frontotemporal dementia (c9orf72 als/ftd), poly-glycine-arginine (poly-gr), mitochondrion, phosphorylated protein kinase b, metformin, Medicine

وصف الملف: electronic resource

العلاقة: https://xuebao.shsmu.edu.cn/article/2023/1674-8115/1674-8115-2023-43-7-839.shtmlTest; https://doaj.org/toc/1674-8115Test

الوصول الحر: https://doaj.org/article/f57ed052cea9493e9c640789fda1f295Test

المؤلفون: Madeleine R. Chalmers, JiHye Kim, Nam Chul Kim

المصدر: BMC Research Notes, Vol 16, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Neurodegeneration, Eip74EF, microRNA-34, VCP, ALS-FTD, Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1756-0500Test

الوصول الحر: https://doaj.org/article/ab886da775aa4d0e84262c9adafe7eebTest

المؤلفون: Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A, Stein, Thor D, Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S, Portley, Makayla K, Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, FNU, Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L, Johansson, Per M, Nilsson, Christer F, Rowe, James B, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D, Singleton, Andrew B, Silani, Vincenzo, Ross, Owen A, Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M, Pickering-Brown, Stuart, Brady, Christopher B, Kowal, Neil, Hardy, John A, Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matt, Morris, Christopher M, Ferrari, Raffaele, Landers, John E, Chiò, Adriano, Gibbs, Jesse Raphael, Dalgard, Clifton L, Scholz, Sonja W, Traynor, Bryan J, Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N, Martinez, Elisa McGrath, Pollard, Harvey B, Sukumar, Gauthaman, Soltis, Anthony R, Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Kost, Jason, Scotter, Emma L, Kenna, Kevin P, Miller, Jack W, Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W, Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A, King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, Asbroek, Anneloor LMA ten, Sapp, Peter C, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter

المصدر: Neuron. 109(3)

مصطلحات موضوعية: Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Clinical Research, Neurodegenerative, Acquired Cognitive Impairment, Dementia, Frontotemporal Dementia (FTD), Alzheimer's Disease Related Dementias (ADRD), ALS, Rare Diseases, Brain Disorders, Neurosciences, Huntington's Disease, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, DNA Repeat Expansion, Frontotemporal Dementia, Humans, Huntingtin Protein, Mutation, Whole Genome Sequencing, American Genome Center, FALS Sequencing Consortium, Genomics England Research Consortium, International ALS/FTD Genomics Consortium, International FTD Genetics Consortium, International LBD Genomics Consortium, NYGC ALS Consortium, PROSPECT Consortium, amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/01n02333Test

المؤلفون: Frontiers Production Office

المصدر: Frontiers in Cellular Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: C9ORF72, ALS-FTD, autophagy, autophagy-lysosomal pathway, RAB proteins, endosomal trafficking, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2023.1225439/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/626dc3b840e843139dd95c32d25a00f6Test

المؤلفون: Fang, Mark Y, Markmiller, Sebastian, Vu, Anthony Q, Javaherian, Ashkan, Dowdle, William E, Jolivet, Philippe, Bushway, Paul J, Castello, Nicholas A, Baral, Ashmita, Chan, Michelle Y, Linsley, Jeremy W, Linsley, Drew, Mercola, Mark, Finkbeiner, Steven, Lecuyer, Eric, Lewcock, Joseph W, Yeo, Gene W

المصدر: Neuron. 103(5)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research, Clinical Research, Rare Diseases, Neurodegenerative, Dementia, Acquired Cognitive Impairment, Orphan Drug, ALS, Brain Disorders, Neurological, Amyotrophic Lateral Sclerosis, Cell Line, Cytoplasmic Granules, DNA Helicases, DNA-Binding Proteins, Frontotemporal Dementia, HEK293 Cells, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, High-Throughput Screening Assays, Humans, Induced Pluripotent Stem Cells, Intrinsically Disordered Proteins, Motor Neurons, Neural Stem Cells, Poly-ADP-Ribose Binding Proteins, Protein Aggregation, Pathological, RNA Helicases, RNA Recognition Motif Proteins, RNA-Binding Protein FUS, Small Molecule Libraries, Stress, Physiological, ALS-FTD, TDP-43, high-content screening, motor neurons, planar molecule, stress granule, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/55f75353Test