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1دورية أكاديمية
المؤلفون: Protic, Dragana, Polli, Roberta, Hwang, Ye Hyun, Mendoza, Guadalupe, Hagerman, Randi, Durbin-Johnson, Blythe, Hayward, Bruce E, Usdin, Karen, Murgia, Alessandra, Tassone, Flora
المصدر: Cells. 12(13)
مصطلحات موضوعية: Biological Sciences, Genetics, Intellectual and Developmental Disabilities (IDD), Clinical Research, Fragile X Syndrome, Rare Diseases, Brain Disorders, Female, Animals, Fragile X Mental Retardation Protein, Reproducibility of Results, Heterozygote, Methylation, Alleles, FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, methylation, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Storey, Elsdon, Bui, Minh Q, Stimpson, Paige, Tassone, Flora, Atkinson, Anna, Loesch, Danuta Z
المصدر: Cerebellum & Ataxias. 8(1)
مصطلحات موضوعية: Neurosciences, Genetics, Brain Disorders, Fragile X Syndrome, Acquired Cognitive Impairment, Clinical Research, Behavioral and Social Science, Aging, Neurodegenerative, Basic Behavioral and Social Science, Mental Health, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Neurological, CGG repeats, Cognitive tests, FMR1 premutation, Female premutation carriers, Fragile X-associated tremor ataxia, Motor-cognitive scores relationships, Tremor/ataxia scales
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/10x3161tTest
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3دورية أكاديمية
المؤلفون: Emily C. Timm, Nicollette L. Purcell, Bichun Ouyang, Elizabeth Berry-Kravis, Deborah A. Hall, Joan Ann O’Keefe
المصدر: Sensors, Vol 24, Iss 8, p 2586 (2024)
مصطلحات موضوعية: fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X messenger ribonucleoprotein 1 (FMR1) gene premutation carriers, balance, dual-tasking, prodromal signs, instrumented SWAY, Chemical technology, TP1-1185
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Zafarullah, Marwa, Durbin-Johnson, Blythe, Fourie, Emily S, Hessl, David R, Rivera, Susan M, Tassone, Flora
مصطلحات موضوعية: Medical Biochemistry and Metabolomics, Biomedical and Clinical Sciences, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Neurosciences, Fragile X Syndrome, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, Mental health, Neurological, fragile X-associated tremor, ataxia syndrome, area of the pons, metabolic biomarkers, brain measures, lipids, premutation carriers, fragile X-associated tremor/ataxia syndrome, Clinical Sciences, Public Health and Health Services, Psychology, Clinical sciences
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Hocking, Darren R, Loesch, Danuta Z, Trost, Nicholas, Bui, Minh Q, Hammersley, Eleanor, Francis, David, Tassone, Flora, Storey, Elsdon
المصدر: Frontiers in Neurology. 10(JUL)
مصطلحات موضوعية: Biological Psychology, Psychology, Brain Disorders, Basic Behavioral and Social Science, Acquired Cognitive Impairment, Fragile X Syndrome, Alzheimer's Disease, Clinical Research, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Dementia, Neurosciences, Aging, Behavioral and Social Science, Neurological, Mental health, FMR1 premutation carriers, FXTAS, MRI, white matter hyperintensities, motor scores, cognitive impairment, Clinical Sciences, Clinical sciences, Biological psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4dw665dmTest
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6دورية أكاديمية
المؤلفون: Dragana Protic, Roberta Polli, Ye Hyun Hwang, Guadalupe Mendoza, Randi Hagerman, Blythe Durbin-Johnson, Bruce E. Hayward, Karen Usdin, Alessandra Murgia, Flora Tassone
المصدر: Cells; Volume 12; Issue 13; Pages: 1711
مصطلحات موضوعية: FMR1 mRNA, CGG, premutation carriers, activation ratio, IQ, depression, methylation
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: Darren Hocking, Danuta Loesch-Mdzewska, Nicholas Trost, Minh Q Bui, Eleanor Hammersley, David Francis, Flora Tassone, Elsdon Storeys
مصطلحات موضوعية: Uncategorized, Clinical Neurology, Neurosciences, Neurosciences & Neurology, FMR1 premutation carriers, FXTAS, MRI, white matter hyperintensities, motor scores, cognitive impairment
الإتاحة: https://doi.org/10.26181/17244365.v1Test
https://figshare.com/articles/journal_contribution/Total_and_Regional_White_Matter_Lesions_Are_Correlated_With_Motor_and_Cognitive_Impairments_in_Carriers_of_the_FMR1_Premutation/17244365Test -
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المؤلفون: Hwang, Ye Hyun
مصطلحات موضوعية: Genetics, CGG repeat instability, FMR1 premutation carriers, Fragile X syndrome, somatic mosaicism
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8nd623ttTest
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9دورية أكاديمية
المؤلفون: M. Friedman-Gohas, S. E. Elizur, O. Dratviman-Storobinsky, A. Aizer, J. Haas, H. Raanani, R. Orvieto, Y. Cohen
المصدر: Journal of Ovarian Research, Vol 13, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: FMRpolyG, FMR1 premutation carriers, RAN translation, FXPOI, COV434, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13048-020-00623-wTest; https://doaj.org/toc/1757-2215Test
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10دورية أكاديمية
المؤلفون: Marwa Zafarullah, Blythe Durbin-Johnson, Emily S. Fourie, David R. Hessl, Susan M. Rivera, Flora Tassone
المصدر: Frontiers in Psychiatry, Vol 12 (2021)
مصطلحات موضوعية: fragile X-associated tremor/ataxia syndrome, area of the pons, metabolic biomarkers, brain measures, lipids, premutation carriers, Psychiatry, RC435-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fpsyt.2021.691717/fullTest; https://doaj.org/toc/1664-0640Test