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

الوصول الحر: https://escholarship.org/uc/item/781904b9Test

المؤلفون: Tang, Si Jie, Giri, Shanthi, Pahlavan, Nima, Han, Sophia H, Santos, Ellery R, Espinal, Glenda, Aishworiya, Ramkumar, Schneider, Andrea, Hessl, David, Rivera, Susan M, Hagerman, Randi J

المصدر: Clinical Case Reports. 10(11)

مصطلحات موضوعية: Agricultural, Veterinary and Food Sciences, Biomedical and Clinical Sciences, Health Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Clinical Research, Fragile X Syndrome, Neurodegenerative, FMR1, FXTAS, gout, premutation, tophi, Agricultural, veterinary and food sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0gr856fhTest

المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: CD38, DIA-MS, FMR1, FMRpolyG, FXTAS, SUMO1/2, fragile X syndrome, tenascin-c, SUMO1, 2

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0c746249Test

المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Brain Disorders, Fragile X Syndrome, Rare Diseases, Neurodegenerative, Neurosciences, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Neurological, FXTAS, DIA-MS, SUMO1, 2, Tenascin-C, CD38, FMRpolyG, FMR1, SUMO1/2, Biochemistry and cell biology, Medical biochemistry and metabolomics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0g0288bvTest

المؤلفون: Holm, Katharine Nichole, Herren, Anthony W, Taylor, Sandra L, Randol, Jamie L, Kim, Kyoungmi, Espinal, Glenda, Martiínez-Cerdeño, Verónica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

مصطلحات موضوعية: CD38, DIA-MS, FMR1, FMRpolyG, FXTAS, Fragile X Syndrome, SUMO1/2, Tenascin-C, SUMO1, 2

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0g0288bvTest

المؤلفون: Ma, Lisa, Herren, Anthony W, Espinal, Glenda, Randol, Jamie, McLaughlin, Bridget, Martinez-Cerdeño, Veronica, Pessah, Isaac N, Hagerman, Randi J, Hagerman, Paul J

المصدر: Acta Neuropathologica Communications. 7(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Genetics, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Ataxia, Female, Flow Cytometry, Frontal Lobe, Humans, Intranuclear Inclusion Bodies, Male, Proteomics, Tremor, Fragile X, neurodegeneration, proteomics, CGG repeat, proteasome, inclusion, FXTAS, FMRpolyG, SUMO, ubiquitin, Clinical Sciences, Neurosciences, Biochemistry and cell biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1z08r4ddTest

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: Hessl, David, Mandujano Rojas, Karina, Ferrer, Emilio, Espinal, Glenda, Famula, Jessica, Schneider, Andrea, Hagerman, Randi, Tassone, Flora, Rivera, Susan M.

المساهمون: National Institute of Child Health and Human Development

المصدر: Movement Disorders ; volume 39, issue 3, page 519-525 ; ISSN 0885-3185 1531-8257

الإتاحة: https://doi.org/10.1002/mds.29695Test

المؤلفون: Jiraanont, Poonnada, Kumar, Madhur, Tang, Hiu-Tung, Espinal, Glenda, Hagerman, Paul J, Hagerman, Randi J, Chutabhakdikul, Nuanchan, Tassone, Flora

المصدر: Expert Review of Molecular Diagnostics. 17(11)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Fragile X Syndrome, Brain Disorders, Genetics, Mental Health, Autism, Rare Diseases, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Alleles, Child, Child, Preschool, DNA Methylation, Fragile X Mental Retardation Protein, Gene Expression Regulation, Humans, Infant, Male, Mosaicism, Mutation, RNA, Messenger, Sequence Analysis, DNA, Sequence Deletion, Trinucleotide Repeat Expansion, Young Adult, FMR1mRNA, FMRP, transcription, fragile X syndrome, methylation, mosaicism, deletion, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8x10k42pTest

المؤلفون: Robin, Gaëlle, López, José R, Espinal, Glenda M, Hulsizer, Susan, Hagerman, Paul J, Pessah, Isaac N

المصدر: Human Molecular Genetics. 26(14)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Brain Disorders, Mental Health, Neurosciences, Fragile X Syndrome, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Neurodegenerative, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, 1.1 Normal biological development and functioning, Neurological, Animals, Ataxia, Ataxia Telangiectasia Mutated Proteins, Calcium, Cyclin-Dependent Kinase 5, Disease Models, Animal, Female, Fragile X Mental Retardation Protein, Hippocampus, Humans, Male, Mice, Mice, Inbred C57BL, Neurons, RNA, Messenger, Tremor, Trinucleotide Repeat Expansion, Medical and Health Sciences, Genetics & Heredity, Genetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4359s2bvTest