المؤلفون: Jalnapurkar, Isha, Rafika, Nuva, Tassone, Flora, Hagerman, Randi

المصدر: American Journal of Medical Genetics Part A. 167(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Mental Health, Clinical Research, Brain Disorders, Neurosciences, Behavioral and Social Science, Rare Diseases, Genetics, Neurodegenerative, Mental health, Neurological, Adult, Aged, Ataxia, Female, Fragile X Mental Retardation Protein, Humans, Immune System Diseases, Middle Aged, Time Factors, Tremor, Trinucleotide Repeat Expansion, CGG repeat, FMR1 gene, FXTAS, RNA toxicity, autoimmune disease, genetic counseling, premutation, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1kd8x8jbTest

المؤلفون: Berman, Robert F, Buijsen, Ronald AM, Usdin, Karen, Pintado, Elizabeth, Kooy, Frank, Pretto, Dalyir, Pessah, Isaac N, Nelson, David L, Zalewski, Zachary, Charlet-Bergeurand, Nicholas, Willemsen, Rob, Hukema, Renate K

المصدر: Journal of Neurodevelopmental Disorders. 6(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Genetics, Intellectual and Developmental Disabilities (IDD), Orphan Drug, Pediatric, Brain Disorders, Clinical Research, Fragile X Syndrome, Mental Health, Neurodegenerative, Behavioral and Social Science, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, CGG trinucleotide repeat, FMR1, FMRP, Fragile X premutation, FXTAS, Intranuclear inclusions, Mouse models, RNA toxicity, Psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/32s0n7sjTest

المؤلفون: Careaga, Milo, Noyon, Tamanna, Basuta, Kirin, Van de Water, Judy, Tassone, Flora, Hagerman, Randi J, Ashwood, Paul

المصدر: Journal of Neuroinflammation. 11(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Clinical Research, Fragile X Syndrome, Pediatric, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Case-Control Studies, Cells, Cultured, Child, Child, Preschool, Cytokines, Excitatory Amino Acid Agonists, Excitatory Amino Acid Antagonists, Fragile X Mental Retardation Protein, Humans, Leukocytes, Mononuclear, Lipopolysaccharides, Male, Methoxyhydroxyphenylglycol, Mitogens, Phytohemagglutinins, Pyridines, Receptors, Metabotropic Glutamate, Statistics, Nonparametric, Thiazoles, Trinucleotide Repeat Expansion, Fragile x syndrome, Immune, Cytokine, Metabotropic glutamate receptor, Clinical Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5jn9z235Test

المؤلفون: Saldarriaga, Wilmar, Tassone, Flora, González-Teshima, Laura Yuriko, Forero-Forero, Jose Vicente, Ayala-Zapata, Sebastián, Hagerman, Randi

المصدر: Colombia medica (Cali, Colombia). 45(4)

مصطلحات موضوعية: Animals, Humans, Fragile X Syndrome, Blotting, Southern, Polymerase Chain Reaction, Sex Factors, DNA Methylation, Trinucleotide Repeat Expansion, Mutation, Child, Female, Male, Fragile X Mental Retardation Protein, Promoter Regions, Genetic, Genetic Counselling, Therapeutics, intellectual disability, Pediatric, Genetics, Autism, Orphan Drug, Neurosciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Mental health, review, therapeutics, genetic counselling, Public Health

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6xh6h8bwTest

المؤلفون: Juang, Bi-Tzen, Ludwig, Anna L, Benedetti, Kelli L, Gu, Chen, Collins, Kimberly, Morales, Christopher, Asundi, Aarati, Wittmann, Torsten, L'Etoile, Noelle, Hagerman, Paul J

المصدر: Human Molecular Genetics. 23(18)

مصطلحات موضوعية: Genetics, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Rare Diseases, Neurosciences, Brain Disorders, Biotechnology, Fragile X Syndrome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Animals, Animals, Genetically Modified, Argonaute Proteins, Ataxia, Butanones, Caenorhabditis elegans, Disease Models, Animal, Fragile X Mental Retardation Protein, Humans, Neuronal Plasticity, Olfactory Receptor Neurons, Sensory Receptor Cells, Smell, Tremor, Trinucleotide Repeat Expansion, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

الوصول الحر: https://escholarship.org/uc/item/8t33g3npTest

المؤلفون: Leow, Alex, Harvey, Danielle, Goodrich‐Hunsaker, Naomi J, Gadelkarim, Johnson, Kumar, Anand, Zhan, Liang, Rivera, Susan M, Simon, Tony J

المصدر: Human Brain Mapping. 35(9)

مصطلحات موضوعية: Biological Psychology, Psychology, Fragile X Syndrome, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Neurological, Adolescent, Adult, Ataxia, Brain, Chromosomes, Human, X, Connectome, Diffusion Magnetic Resonance Imaging, Female, Fragile X Mental Retardation Protein, Humans, Male, Models, Neurological, Neural Pathways, Organ Size, Psychological Tests, Sex Characteristics, Tremor, Trinucleotide Repeat Expansion, Young Adult, DTI, structural connectome, graph theory, fragile X, FXTAS, CGG, Fragile X, Graph theory, Structural connectome, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1fw199bxTest

المؤلفون: Richard, Guy-Franck

المساهمون: Génétique des génomes - Genetics of Genomes (UMR 3525), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Work in my lab is generously supported by the Centre National de la Recherche Scientifique (CNRS) and by the Institut Pasteur., Guy-Franck Richard

المصدر: Trinucleotide Repeats : Methods and Protocols ; https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611Test ; Guy-Franck Richard. Trinucleotide Repeats : Methods and Protocols, 2056, Springer Science; Business Media, LLC, pp.1-10, 2019, 978-1-4939-9783-1. ⟨10.1007/978-1-4939-9784-8_1⟩ ; https://link.springer.com/protocol/10.1007%2F978-1-4939-9784-8_1#Sec5Test

مصطلحات موضوعية: Mismatch repair, Trinucleotide repeat, Secondary structure, PCR, Agarose gel electrophoresis, (separated by " -") Trinucleotide repeat -Secondary structure -PCR -Agarose gel electrophoresis -Mismatch repair Key words Trinucleotide repeat, [SDV]Life Sciences [q-bio]

العلاقة: pasteur-02864611; https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611Test; https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611/documentTest; https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611/file/467463_1_En_1_Chapter_Author.pdfTest

الإتاحة: https://doi.org/10.1007/978-1-4939-9784-8_1Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611/documentTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-02864611/file/467463_1_En_1_Chapter_Author.pdfTest

المؤلفون: Mário Gomes-Pereira, Darren G. Monckton

المصدر: Frontiers in Cellular Neuroscience, Vol 14 (2021)

مصطلحات موضوعية: trinucleotide repeat, unstable DNA, mismatch repair, oxidative stress, cadmium, antioxidants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fncel.2020.606331/fullTest; https://doaj.org/toc/1662-5102Test

الوصول الحر: https://doaj.org/article/e71e2f08af9c4ff787d1cb15096bd0faTest

المؤلفون: Wong, Ling M, Goodrich-Hunsaker, Naomi J, McLennan, Yingratana, Tassone, Flora, Zhang, Melody, Rivera, Susan M, Simon, Tony J

المصدر: Neuropsychology. 28(4)

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Psychology, Fragile X Syndrome, Eye Disease and Disorders of Vision, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Rare Diseases, Clinical Research, Neurological, Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Cerebellar Cortex, Cognition Disorders, Executive Function, Fragile X Mental Retardation Protein, Humans, Inhibition, Psychological, Linear Models, Magnetic Resonance Imaging, Male, Middle Aged, Ocular Motility Disorders, Primary Ovarian Insufficiency, Psychological Tests, Reaction Time, Trinucleotide Repeat Expansion, Young Adult, fragile X, FMR1 gene, FXTAS, eye movement, antisaccade, Neurosciences, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/74f2r5mgTest

المؤلفون: Ludwig, Anna Lisa, Espinal, Glenda M, Pretto, Dalyir I, Jamal, Amanda L, Arque, Gloria, Tassone, Flora, Berman, Robert F, Hagerman, Paul J

المصدر: Human molecular genetics. 23(12)

مصطلحات موضوعية: Cerebellum, Hippocampus, Frontal Lobe, Animals, Humans, Mice, Fragile X Syndrome, Disease Models, Animal, RNA, Messenger, Organ Specificity, Gene Expression Regulation, Trinucleotide Repeat Expansion, Female, Male, Fragile X Mental Retardation Protein, Brain Disorders, Orphan Drug, Genetics, Mental Health, Rare Diseases, Neurodegenerative, Neurosciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1zj9f7hsTest