المؤلفون: Protic, Dragana, Polli, Roberta, Bettella, Elisa, Usdin, Karen, Murgia, Alessandra, Tassone, Flora

المصدر: International Journal of Molecular Sciences. 25(24)

مصطلحات موضوعية: FMR1 gene, activation ratio, full mutation, methylation, mosaicism, premutation, Fragile X Syndrome, Humans, Mosaicism, Fragile X Mental Retardation Protein, DNA Methylation, Mutation, Alleles, Trinucleotide Repeat Expansion, Clinical Relevance

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5585k5zr
https://escholarship.org/content/qt5585k5zr/qt5585k5zr.pdf

المؤلفون: Ain, Quratul, Hwang, Ye, Yeung, Daryl, Panpaprai, Pacharee, Iamurairat, Wiwat, Chutimongkonkul, Wiboon, Trachoo, Objoon, Tassone, Flora, Jiraanont, Poonnada

المصدر: Journal of Assisted Reproduction and Genetics. 41(11)

مصطلحات موضوعية: Carrier screening, FXPAC, FXPOI, Premutation, Prevalence, Humans, Female, Fragile X Mental Retardation Protein, Adult, Fragile X Syndrome, Genetic Carrier Screening, Trinucleotide Repeat Expansion, Heterozygote, Young Adult, Alleles, Middle Aged, Thailand, Genetic Testing, Primary Ovarian Insufficiency, Mutation

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9gs0613k
https://escholarship.org/content/qt9gs0613k/qt9gs0613k.pdf

المؤلفون: Randol, Jamie L, Kim, Kyoungmi, Ponzini, Matthew D, Tassone, Flora, Falcon, Alexandria K, Hagerman, Randi J, Hagerman, Paul J

المصدر: Genes. 15(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Mental Health, Pediatric, Fragile X Syndrome, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Humans, Trinucleotide Repeat Expansion, Leukocytes, Mononuclear, Autism Spectrum Disorder, Fragile X Mental Retardation Protein, RNA, Messenger, FMR1, fragile X syndrome, autism, full mutation, TR-FRET, mosaicism, intellectual disability

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9hf9377f
https://escholarship.org/content/qt9hf9377f/qt9hf9377f.pdf

المؤلفون: Kargar, Maryam, Martínez-Cerdeño, Verónica, Hagerman, Randi

المصدر: International Journal of Molecular Sciences. 24(24)

مصطلحات موضوعية: FXTAS, hippocampus, pathology, Humans, Tremor, Gray Matter, Fragile X Mental Retardation Protein, Fragile X Syndrome, Ataxia, Hippocampus, Trinucleotide Repeat Expansion

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/26s2f55k
https://escholarship.org/content/qt26s2f55k/qt26s2f55k.pdf

المؤلفون: JIANG Ji-wei, JIANG Shi-rui, LI Wen-yi, ZHAO Min, ZHANG Hui-ying, XU Jun

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 24, Iss 9, Pp 772-776 (2024)

مصطلحات موضوعية: multiple system atrophy, trinucleotide repeat expansion, genes, mutation, case reports, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.cjcnn.org/index.php/cjcnn/article/view/2927; https://doaj.org/toc/1672-6731

URL الوصول: https://doaj.org/article/516eb30411e24a41aa67e1db8e45fd89

المؤلفون: Thompson, Leslie, Orr, Harry

المصدر: Neuron. 111(22)

مصطلحات موضوعية: Huntington’s disease, polyglutamine neurodegenerative disease, spinocerebellar ataxia type 1, Humans, Huntington Disease, Spinocerebellar Ataxias, Ataxin-1, Proteins, Trinucleotide Repeats, Nervous System Diseases, Genetic Association Studies, Trinucleotide Repeat Expansion

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6df383xw
https://escholarship.org/content/qt6df383xw/qt6df383xw.pdf

المؤلفون: Zafarullah, Marwa, Li, Jie, Tseng, Elizabeth, Tassone, Flora

المصدر: Molecular Neurobiology. 60(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Neurosciences, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Brain Disorders, 2.1 Biological and endogenous factors, Neurological, Humans, Trinucleotide Repeat Expansion, Alternative Splicing, Protein Isoforms, Fragile X Mental Retardation Protein, Fragile X-associated Tremor/ataxia Syndrome, ASFMR1, FMR1, Isoforms, Long Read Sequencing, Tremor, Ataxia, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/71d5s15r
https://escholarship.org/content/qt71d5s15r/qt71d5s15r.pdf

المؤلفون: Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson

المصدر: EBioMedicine, Vol 108, Iss , Pp 105328- (2024)

مصطلحات موضوعية: Fuchs endothelial corneal dystrophy, Trinucleotide repeat expansion disease, Triplet repeat expansion-mediated disease, Somatic mosaicism, Tissue-specific repeat instability, Optical genome mapping, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424003645; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/886fb84cc1b04e459db16fc8c11e4f8d

المؤلفون: Das, Michael R, Chang, Yeonji, Anderson, Rachel, Saunders, Reuben A, Zhang, Nan, Tomberlin, Colson P, Vale, Ronald D, Jain, Ankur

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Neurosciences, Rare Diseases, Genetics, Neurodegenerative, Biotechnology, Brain Disorders, Neurological, Humans, RNA, Trinucleotide Repeat Expansion, Spinocerebellar Ataxias, Huntington Disease, RAN translation, RNA aggregation, RNA localization, Repeat expansion diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7g64219p

المؤلفون: Aishworiya, Ramkumar, Hwang, Ye Hyun, Santos, Ellery, Hayward, Bruce, Usdin, Karen, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora

المصدر: Scientific Reports. 13(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Sciences, Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Neurosciences, Mental Illness, Pediatric, Clinical Research, Mental Health, Brain Disorders, Attention Deficit Hyperactivity Disorder (ADHD), Fragile X Syndrome, 2.1 Biological and endogenous factors, Neurological, Mental health, Good Health and Well Being, Female, Humans, Alleles, Fragile X Mental Retardation Protein, RNA, Messenger, Trinucleotide Repeat Expansion, Infant, Child, Preschool, Child, Adolescent, Young Adult, Adult, Middle Aged, Aged, Aged, 80 and over, Ataxia, Tremor

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3gv7k63b
https://escholarship.org/content/qt3gv7k63b/qt3gv7k63b.pdf

المؤلفون: Hessl, David, Rosselot, Hilary, Miller, Robert, Espinal, Glenda, Famula, Jessica, Sherman, Stephanie L, Todd, Peter K, Herrera, Ana Maria Cabal, Lipworth, Karen, Cohen, Jonathan, Hall, Deborah A, Leehey, Maureen, Grigsby, Jim, Weber, Jayne Dixon, Alusi, Sundus, Wheeler, Anne, Raspa, Melissa, Hudson, Tamaro, Sobrian, Sonya K

المصدر: Journal of Medical Genetics. 59(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, Fragile X Syndrome, Neurodegenerative, Clinical Trials and Supportive Activities, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Humans, Fragile X Mental Retardation Protein, Trinucleotide Repeat Expansion, Neurodegenerative Diseases, Registries, Guanine, women's health, reproductive health, psychiatry, neurodegenerative diseases, movement disorders, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/781904b9

المؤلفون: Shaoping Zhong, Jianying Liu, Yangye Lian, Binbin Zhou, Xin Wang, Jing Ding

المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Fragile X-associated tremor/ataxia syndrome, Encephalitis-like episode, Neuronal intranuclear inclusion disease, Biopsy, Trinucleotide repeat expansion, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/85e7c33b84be44f59ea82da76bd67e1d

المؤلفون: Tassanakijpanich, Nattaporn, McKenzie, Forrest J, McLennan, Yingratana A, Makhoul, Elisabeth, Tassone, Flora, Jasoliya, Mittal J, Romney, Christopher, Petrasic, Ignacio Cortina, Napalinga, Kaye, Buchanan, Caroline B, Hagerman, Paul, Hagerman, Randi, Casanova, Emily L

المصدر: Journal of Medical Genetics. 59(7)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Pediatric, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Child, Preschool, Ehlers-Danlos Syndrome, Female, Fragile X Mental Retardation Protein, Heterozygote, Humans, Male, Phenotype, Trinucleotide Repeat Expansion, genetic predisposition to disease, genetics, medical, human genetics, gene expression, Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/67c0975f
https://escholarship.org/content/qt67c0975f/qt67c0975f.pdf

المؤلفون: Gu, Xiaofeng, Richman, Jeffrey, Langfelder, Peter, Wang, Nan, Zhang, Shasha, Bañez-Coronel, Monica, Wang, Huei-Bin, Yang, Lucia, Ramanathan, Lalini, Deng, Linna, Park, Chang Sin, Choi, Christopher R, Cantle, Jeffrey P, Gao, Fuying, Gray, Michelle, Coppola, Giovanni, Bates, Gillian P, Ranum, Laura PW, Horvath, Steve, Colwell, Christopher S, Yang, X William

المصدر: Neuron. 110(7)

مصطلحات موضوعية: Neurons, Chromosomes, Artificial, Bacterial, Animals, Mice, Transgenic, Humans, Mice, Huntington Disease, Disease Models, Animal, Nerve Tissue Proteins, Nuclear Proteins, Trinucleotide Repeat Expansion, Huntingtin Protein, BAC transgenic, BAC-CAG, BACHD, CAG repeat, HD, Huntingtin, Huntington’s disease, RAN translation, RNA foci, RNA-seq, aggregation, instability, knockin, motor deficits, muscleblind, mutant huntingtin, nuclear inclusions, polyglutamine, striatum, transcriptional dysregulation, transcriptionopathy, Rare Diseases, Genetics, Neurosciences, Neurodegenerative, Biotechnology, Huntington's Disease, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/52k97025
https://escholarship.org/content/qt52k97025/qt52k97025.pdf

المؤلفون: Anna Dorohova, Oksana Lyasota, Stepan Dzhimak, Alexandr Svidlov, Olga Leontyeva, Mikhail Drobotenko

المصدر: Biomedicines, Vol 12, Iss 10, p 2396 (2024)

مصطلحات موضوعية: ATXN2 gene, CAG tract, trinucleotide repeat expansion diseases, DNA mathematical model, torque, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/10/2396; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/a5d50008605f45bd93535a87e14a23f0

المؤلفون: Hwang, Ye Hyun, Hayward, Bruce Eliot, Zafarullah, Marwa, Kumar, Jay, Durbin Johnson, Blythe, Holmans, Peter, Usdin, Karen, Tassone, Flora

المصدر: Scientific Reports. 12(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Mental Health, Brain Disorders, Pediatric, Fragile X Syndrome, Rare Diseases, Intellectual and Developmental Disabilities (IDD), 5' Untranslated Regions, Alleles, Ataxia, Child, Female, Fragile X Mental Retardation Protein, Humans, Intellectual Disability, Mutation, Trans-Activators, Tremor, Trinucleotide Repeat Expansion

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/14g1j6dx
https://escholarship.org/content/qt14g1j6dx/qt14g1j6dx.pdf

المؤلفون: YU Jia‑xi, YU Meng, ZHANG Wei, YUAN Yun, DENG Jian‑wen, WANG Zhao‑xia

المصدر: Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 23, Iss 9, Pp 798-806 (2023)

مصطلحات موضوعية: neuromuscular diseases, trinucleotide repeat expansion, pathology, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://cjcnn.org/index.php/cjcnn/article/view/2751; https://doaj.org/toc/1672-6731

URL الوصول: https://doaj.org/article/46b3023a23c342ae83ab5ac41b2f8414

المؤلفون: Hagerman, Randi, Hagerman, Paul

المصدر: Current Opinion in Neurology. 34(4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Fragile X Syndrome, Neurodegenerative, Brain Disorders, Clinical Research, Aging, Acquired Cognitive Impairment, Rare Diseases, Dementia, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Neurological, Aged, Ataxia, Female, Fragile X Mental Retardation Protein, Humans, Male, Tremor, Trinucleotide Repeat Expansion, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/540048sb
https://escholarship.org/content/qt540048sb/qt540048sb.pdf

المؤلفون: Oksana Lyasota, Anna Dorohova, Jose Luis Hernandez-Caceres, Alexandr Svidlov, Elena Tekutskaya, Mikhail Drobotenko, Stepan Dzhimak

المصدر: Biomedicines, Vol 12, Iss 8, p 1648 (2024)

مصطلحات موضوعية: ATXN2 gene, CAG tract, CAA interruptions, parkinsonism, diseases of trinucleotide repeat expansion, DNA model, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/8/1648; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/33bf1eb4b93a4f2ab02fd43b554f3116

المؤلفون: Kuo-Hsuan Chang, Chiung-Mei Chen

المصدر: Antioxidants, Vol 13, Iss 6, p 649 (2024)

مصطلحات موضوعية: trinucleotide repeat expansion disorders, neurodegeneration, oxidative stress, NRF2, anti-oxidative therapy, Therapeutics. Pharmacology, RM1-950

Relation: https://www.mdpi.com/2076-3921/13/6/649; https://doaj.org/toc/2076-3921; https://doaj.org/article/682b23942b874c47830ee83d5450c528

الاتاحة: https://doi.org/10.3390/antiox13060649
https://doaj.org/article/682b23942b874c47830ee83d5450c528