المؤلفون: Wenzel, H Jürgen, Murray, Karl D, Haify, Saif N, Hunsaker, Michael R, Schwartzer, Jared J, Kim, Kyoungmi, La Spada, Albert R, Sopher, Bryce L, Hagerman, Paul J, Raske, Christopher, Severijnen, Lies-Anne WFM, Willemsen, Rob, Hukema, Renate K, Berman, Robert F

المصدر: Acta neuropathologica communications. 7(1)

مصطلحات موضوعية: Astrocytes, Animals, Mice, Inbred C57BL, Mice, Transgenic, Mice, Ataxia, Tremor, Fragile X Syndrome, Motor Skills Disorders, Cell Communication, Gene Expression, Trinucleotide Repeat Expansion, Base Sequence, Male, Fragile X Mental Retardation Protein, Electron microscopy of inclusions, FMRpolyG, FXTAS, Fragile X premutation, Glia, Mouse model, Neurodegeneration, Non-cell-autonomous, RAN translation, Inbred C57BL, Transgenic, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4nn9n5bbTest

المؤلفون: Saldarriaga, Wilmar, Salcedo‐Arellano, María J, Rodriguez‐Guerrero, Tatiana, Ríos, Marcela, Fandiño‐Losada, Andrés, Ramirez‐Cheyne, Julian, Lein, Pamela J, Tassone, Flora, Hagerman, Randi J

المصدر: International Journal of Developmental Neuroscience. 72(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Psychology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric, Rare Diseases, Clinical Trials and Supportive Activities, Fragile X Syndrome, Clinical Research, Rural Health, Autism, Behavioral and Social Science, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Agriculture, Child, Child, Preschool, Cognition Disorders, Colombia, Female, Fragile X Mental Retardation Protein, Humans, Infant, Male, Middle Aged, Pesticides, Problem Behavior, Residence Characteristics, Seizures, Trinucleotide Repeat Expansion, Young Adult, Fragile X syndrome, Fragile X spectrum disorders, FXTAS, FXPOI, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8785n0c0Test

المؤلفون: Kim, Kyoungmi, Hessl, David, Randol, Jamie L, Espinal, Glenda M, Schneider, Andrea, Protic, Dragana, Aydin, Elber Yuksel, Hagerman, Randi J, Hagerman, Paul J

المصدر: PloS one. 14(12)

مصطلحات موضوعية: Fibroblasts, Humans, Fragile X Syndrome, Cohort Studies, Intelligence, Cognition, Wechsler Scales, Gene Silencing, Trinucleotide Repeat Expansion, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Fragile X Mental Retardation Protein, Young Adult, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6g55t0j4Test

المؤلفون: Keil, Kimberly P, Sethi, Sunjay, Wilson, Machelle D, Silverman, Jill L, Pessah, Isaac N, Lein, Pamela J

المصدر: Genes Brain & Behavior. 18(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Neurosciences, Mental Health, Fragile X Syndrome, Rare Diseases, Basic Behavioral and Social Science, Genetics, Pediatric, Women's Health, Behavioral and Social Science, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Neurological, Mental health, Animals, CA1 Region, Hippocampal, Calcium Signaling, Dendrites, Female, Fragile X Mental Retardation Protein, Gain of Function Mutation, Male, Mice, Mice, Inbred C57BL, Neuronal Outgrowth, Neuronal Plasticity, Pyramidal Cells, Ryanodine Receptor Calcium Release Channel, Social Behavior, Trinucleotide Repeat Expansion, autism, developmental neurobiology, FMR1, Golgi stain Sholl analysis, ryanodine receptor, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/63f8n4cwTest
https://escholarship.org/content/qt63f8n4cw/qt63f8n4cw.pdfTest

المؤلفون: Morton, Anne

المصدر: essn: 2041-4889 ; nlmid: 101524092

مصطلحات موضوعية: Humans, RNA Interference, Trinucleotide Repeat Expansion, Trinucleotide Repeats, Huntington Disease, RNA, Messenger, Huntingtin Protein

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/345988Test

الإتاحة: https://doi.org/10.17863/CAM.93410Test
https://www.repository.cam.ac.uk/handle/1810/345988Test

المؤلفون: Ferguson, Ross, Tabrizi, Sarah J

المصدر: Molecular Therapy , 31 (6) pp. 1509-1511. (2023)

مصطلحات موضوعية: Humans, Trinucleotide Repeat Expansion, Nuclear Proteins, Huntington Disease, Huntingtin Protein, MutS Homolog 3 Protein

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10174270/2/Ferguson_Ferguson%20and%20Tabrizi%202023%20-%20Can%20MSH3%20lowering%20stop%20HTT%20repeat%20expansion%20in%20its%20CAG%20tract.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10174270Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10174270/2/Ferguson_Ferguson%20and%20Tabrizi%202023%20-%20Can%20MSH3%20lowering%20stop%20HTT%20repeat%20expansion%20in%20its%20CAG%20tract.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10174270Test/

المؤلفون: Bonnet, C, Pellerin, D, Roth, V, Clément, G, Wandzel, M, Lambert, L, Frismand, S, Douarinou, M, Grosset, A, Bekkour, I, Weber, F, Girardier, F, Robin, C, Cacciatore, S, Bronner, M, Pourié, C, Dreumont, N, Puisieux, S, Iruzubieta, P, Dicaire, MJ, Evoy, F, Rioux, MF, Hocquel, A, La Piana, R, Synofzik, M, Houlden, H, Danzi, MC, Zuchner, S, Brais, B, Renaud, M

المصدر: Scientific Reports , 13 (1) , Article 9737. (2023) (In press).

مصطلحات موضوعية: Humans, Canada, Friedreich Ataxia, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172818/1/s41598-023-36654-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172818Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10172818/1/s41598-023-36654-8.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10172818Test/

المؤلفون: Fernández-Frías, Iván, Pérez-Luz, Sara, Díaz Nido, Javier

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Iron Binding Protein, Epigenetics, Genomics, Trinucleotide Repeat, Biología y Biomedicina / Biología

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; https://doi.org/10.3390/ijms21103410Test; Comunidad de Madrid. S2017/BMD-3700 /NEUROMETAB-CM; International Journal of Molecular Sciences 21.10 (2020): 3410; 1661-6596 (print); 1422-0067 (online); http://hdl.handle.net/10486/708790Test; 3410-1; 10; 3410-13; 21

الإتاحة: https://doi.org/10.3390/ijms21103410Test
http://hdl.handle.net/10486/708790Test

المؤلفون: Gamage, Hasinika K. A. H., Robinson, Katherine J., Luu, Luan, Paulsen, Ian T., Laird, Angela S.

المصدر: Gamage , H K A H , Robinson , K J , Luu , L , Paulsen , I T & Laird , A S 2023 , ' Machado Joseph disease severity is linked with gut microbiota alterations in transgenic mice ' , Neurobiology of Disease , vol. 179 , 106051 , pp. 1-13 . https://doi.org/10.1016/j.nbd.2023.106051Test

مصطلحات موضوعية: Gut dysbiosis, Gut microbiota, Polyglutamine repeat, Spinocerebellar ataxia, Trinucleotide repeat disease

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.nbd.2023.106051Test
https://researchers.mq.edu.au/en/publications/8b4e7997-1fca-4bd5-bd1f-463ef7d6fa12Test
https://research-management.mq.edu.au/ws/files/227986450/227790897.pdfTest
http://www.scopus.com/inward/record.url?scp=85149015201&partnerID=8YFLogxKTest

المؤلفون: Phadte, Ashutosh S., Bhatia, Mayuri, Ebert, Hope, Abdullah, Haaris, Elrazaq, Essam Abed, Komolov, Konstantin E., Pluciennik, Anna

المصدر: Department of Biochemistry and Molecular Biology Faculty Papers

مصطلحات موضوعية: humans, cell extracts, endodeoxyribonucleases, endonucleases, exodeoxyribonucleases, genome-wide association study, multifunctional enzymes, proliferating cell nuclear antigen, trinucleotide repeat expansion, trinucleotide repeats, Medical Biochemistry, Medical Sciences, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://jdc.jefferson.edu/bmpfp/241Test; https://jdc.jefferson.edu/context/bmpfp/article/1242/viewcontent/pnas.2302103120.pdfTest; https://jdc.jefferson.edu/context/bmpfp/article/1242/filename/0/type/additional/viewcontent/pnas.2302103120.sapp.pdfTest

الإتاحة: https://jdc.jefferson.edu/bmpfp/241Test
https://jdc.jefferson.edu/context/bmpfp/article/1242/viewcontent/pnas.2302103120.pdfTest
https://jdc.jefferson.edu/context/bmpfp/article/1242/filename/0/type/additional/viewcontent/pnas.2302103120.sapp.pdfTest