المؤلفون: Dongwei Xu, Alec Vincent, Andrés González-Gutiérrez, Benjamin Aleyakpo, Sharifah Anoar, Ashling Giblin, Magda L Atilano, Mirjam Adams, Dunxin Shen, Annora Thoeng, Elli Tsintzas, Marie Maeland, Adrian M Isaacs, Jimena Sierralta, Teresa Niccoli

المصدر: PLoS Genetics, Vol 19, Iss 9, p e1010893 (2023)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/44d952c3a1cc4820a8897d05251cf851

المؤلفون: Magda L Atilano, Sebastian Grönke, Teresa Niccoli, Liam Kempthorne, Oliver Hahn, Javier Morón-Oset, Oliver Hendrich, Miranda Dyson, Mirjam Lisette Adams, Alexander Hull, Marie-Therese Salcher-Konrad, Amy Monaghan, Magda Bictash, Idoia Glaria, Adrian M Isaacs, Linda Partridge

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: hexanucleotide repeats, C9orf72, insulin signalling, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/58565; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/55824973121a40c69b33db796ae2c8b6

المؤلفون: Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs

المصدر: EMBO Molecular Medicine, Vol 10, Iss 1, Pp 22-31 (2018)

مصطلحات موضوعية: amyotrophic lateral sclerosis, C9orf72, frontotemporal dementia, G‐quadruplex, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/1f8b61ee6cea4757929c90eeb5c2d015

المؤلفون: Rubika Balendra, Thomas G Moens, Adrian M Isaacs

المصدر: EMBO Molecular Medicine, Vol 9, Iss 7, Pp 853-855 (2017)

مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/b3b988c8104142edb72bd52afb5a17e9

المؤلفون: Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena

المصدر: Molecular Neurodegeneration. 18

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04a0e0f364eda873da48b7d0ef4bb317
https://doi.org/10.1186/s13024-023-00619-2

المؤلفون: Adrian M. Isaacs, Katherine Bonnycastle, Stephanie Schorge, Emma L. Clayton, Michael A. Cousin

المصدر: Journal of Neurochemistry. 160:412-425

مصطلحات موضوعية: Aging, Endosome, Transgene, Primary Cell Culture, Mutant, Nerve Tissue Proteins, Biology, Receptors, Presynaptic, Biochemistry, Synaptic vesicle, ESCRT, Presynapse, Mice, Cellular and Molecular Neuroscience, Lysosome, medicine, Animals, Cerebral Cortex, Mice, Knockout, Endosomal Sorting Complexes Required for Transport, medicine.disease, Cell biology, Disease Models, Animal, medicine.anatomical_structure, Frontotemporal Dementia, Synapses, Synaptopathy, Synaptic Vesicles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345a45bfd5a414b434edd5b19e08bffe
https://doi.org/10.1111/jnc.15551

المؤلفون: Rubika Balendra, Igor Ruiz de los Mozos, Idoia Glaria, Carmelo Milioto, Hana M Odeh, Katherine M Wilson, Agnieszka M Ule, Martina Hallegger, Laura Masino, Stephen Martin, Rickie Patani, James Shorter, Jernej Ule, Adrian M Isaacs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7884474e238fa34edd2e211aa5ecae20
https://doi.org/10.1101/2022.10.10.511318

المؤلفون: Ross McLeod, David Thompson, Elizabeth M. C. Fisher, Charlotte Tibbit, Michelle Simon, Robert H. Baloh, Asif Nakhuda, Thomas J. Cunningham, Remya R. Nair, Adrian M. Isaacs

المصدر: Methods (San Diego, Calif.)

مصطلحات موضوعية: 0303 health sciences, DNA Repeat Expansion, C9orf72 Protein, Amyotrophic Lateral Sclerosis, 030302 biochemistry & molecular biology, DNA replication, C9orf72 Gene, Gene targeting, Computational biology, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Homology (biology), Genome engineering, Mice, 03 medical and health sciences, Gene Targeting, Animals, Humans, Microsatellite, Human genome, Cloning, Molecular, Molecular Biology, ComputingMethodologies_COMPUTERGRAPHICS, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e34ac9e29f133ef2e8dbae912126e4f
https://doi.org/10.1016/j.ymeth.2020.07.007

المؤلفون: Idoia Glaria, Adrian M. Isaacs, Annelies Quaegebeur, Tammaryn Lashley

المساهمون: European Research Council, European Commission, Medical Research Council (UK), Motor Neuron Disease Association, Dementia Research Institute (UK), Alzheimer's Research UK

المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-13 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Acta Neuropathologica Communications

مصطلحات موضوعية: Male, Repetitive Sequences, Amino Acid, Polymers, Dipeptide repeat proteins, medicine.disease_cause, Frontotemporal lobar degeneration, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, 0302 clinical medicine, C9orf72, medicine, Humans, Meso Scale Discovery, Amyotrophic lateral sclerosis, Poly-GR, lcsh:Neurology. Diseases of the nervous system, Aged, 030304 developmental biology, C9orf72 mutation, 0303 health sciences, Mutation, DNA Repeat Expansion, Dipeptide, C9orf72 Protein, Research, Brain, Proteins, Dipeptides, Middle Aged, medicine.disease, 3. Good health, chemistry, Biochemistry, Solubility, Toxicity, Female, Neurology (clinical), Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e772ddfac2b743b64ac1f376ca07202b
http://link.springer.com/article/10.1186/s40478-020-01036-y

المؤلفون: Katherine M, Wilson, Eszter, Katona, Idoia, Glaria, Mireia, Carcolé, Imogen J, Swift, Aitana, Sogorb-Esteve, Carolin, Heller, Arabella, Bouzigues, Amanda J, Heslegrave, Ashvini, Keshavan, Kathryn, Knowles, Saurabh, Patil, Susovan, Mohapatra, Yuanjing, Liu, Jaya, Goyal, Raquel, Sanchez-Valle, Robert Jr, Laforce, Matthis, Synofzik, James B, Rowe, Elizabeth, Finger, Rik, Vandenberghe, Christopher R, Butler, Alexander, Gerhard, John C, Van Swieten, Harro, Seelaar, Barbara, Borroni, Daniela, Galimberti, Alexandre, de Mendonça, Mario, Masellis, M Carmela, Tartaglia, Markus, Otto, Caroline, Graff, Simon, Ducharme, Jonathan M, Schott, Andrea, Malaspina, Henrik, Zetterberg, Ramakrishna, Boyanapalli, Jonathan D, Rohrer, Adrian M, Isaacs, Miren, Zulaica

المصدر: Journal of neurology, neurosurgery, and psychiatry. 93(7)

مصطلحات موضوعية: DNA Repeat Expansion, C9orf72 Protein, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Humans, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::79bb98e10e36c5abc2fb0ed5ebeebce1
https://pubmed.ncbi.nlm.nih.gov/35379698