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1مورد إلكتروني
المؤلفون: Ward, Jacqueline M
المصدر: Cell reports; vol 26, iss 5, 1189-1202.e6; 2211-1247
مصطلحات الفهرس: Purkinje Cells, Adipose Tissue, Organelles, Mitochondria, Animals, Humans, Mice, Spinocerebellar Ataxias, Mitochondrial Diseases, NAD, Blood Glucose, Tryptophan, Kynurenine, Peptides, Reproducibility of Results, Trinucleotide Repeat Expansion, Energy Metabolism, Phenotype, Metabolomics, Neural Stem Cells, Ataxin-7, Purkinje cell, ataxin-7, induced pluripotent stem cells, mitochondria, mouse model, nicotinamide adenine dinucleotide, oxidative metabolism, polyglutamine, spinocerebellar ataxia, trinucleotide repeat, Neurodegenerative, Neurosciences, Rare Diseases, Genetics, Brain Disorders, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Biochemistry and Cell Biology, Medical Physiology, article
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2مورد إلكتروني
المؤلفون: Ward, Jacqueline M
المصدر: Cell reports; vol 26, iss 5, 1189-1202.e6; 2211-1247
مصطلحات الفهرس: Purkinje Cells, Adipose Tissue, Organelles, Mitochondria, Animals, Humans, Mice, Spinocerebellar Ataxias, Mitochondrial Diseases, NAD, Blood Glucose, Tryptophan, Kynurenine, Peptides, Reproducibility of Results, Trinucleotide Repeat Expansion, Energy Metabolism, Phenotype, Metabolomics, Neural Stem Cells, Ataxin-7, Purkinje cell, ataxin-7, induced pluripotent stem cells, mitochondria, mouse model, nicotinamide adenine dinucleotide, oxidative metabolism, polyglutamine, spinocerebellar ataxia, trinucleotide repeat, Biochemistry and Cell Biology, Medical Physiology, article
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3مورد إلكتروني
المؤلفون: Sun, James H
المصدر: Cell; vol 175, iss 1, 224-238.e15; 0092-8674
مصطلحات الفهرس: Brain, Cell Line, Chromatin, Humans, Fragile X Syndrome, Disease, DNA, Chromatin Assembly and Disassembly, Trinucleotide Repeat Expansion, CpG Islands, Microsatellite Repeats, Genome, Human, Adult, Female, Male, Fragile X Mental Retardation Protein, CCCTC-Binding Factor, 3D genome folding, TADs, fragile X syndrome, genome instability, higher-order chromatin architecture, short tandem repeats, subTADs, topologically associating domains, trinucleotide repeat expansion disorders, Human Genome, Brain Disorders, Genetics, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Biological Sciences, Medical and Health Sciences, Developmental Biology, article
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4مورد إلكتروني
المصدر: Journal of Huntington's Disease, Vol. 7, no.3, p. 209-222 (2018)
مصطلحات الفهرس: Adolescent, Adult, Age of Onset, Aged, Aged, 80 and over, Child, Child, Preschool, Europe, Female, Genetic Predisposition to Disease, Humans, Huntingtin Protein, Huntington Disease, Incidence, Infant, Infant, Newborn, Male, Middle Aged, Neoplasms, Prospective Studies, Registries, Trinucleotide Repeat Expansion, Young Adult, Huntington’s disease, Cancer, Neurodegeneration, Trinucleotide repeat, info:eu-repo/semantics/article
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5مورد إلكتروني
المصدر: FIU Electronic Theses and Dissertations
مصطلحات الفهرس: neurodegenerative diseases, trinucleotide repeat instability, DNA polymerases, PCNA, FEN1, FAN1, post-translational modification, mono-ubiquitination, trinucleotide repeat expansion, trinucleotide repeat deletion, genomic instability, disease treatment and prevention, small molecule inhibitor, Biochemistry, Molecular Biology, text
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6مورد إلكتروني
المؤلفون: Buijsen, RAM
المصدر: Human reproduction (Oxford, England); vol 31, iss 1, 158-168; 0268-1161
مصطلحات الفهرس: Intranuclear Inclusion Bodies, Animals, Mice, Inbred C57BL, Humans, Ataxia, Tremor, Fragile X Syndrome, Disease Models, Animal, Peptides, Trinucleotide Repeat Expansion, Mutation, Adult, Aged, Middle Aged, Female, Male, Fragile X Mental Retardation Protein, Primary Ovarian Insufficiency, CGG-repeat, FMR1 premutation, FMRpolyG, FXPOI, FXTAS, HPG-axis, RAN translation, inclusions, ovarian failure, trinucleotide repeat expansion, Rare Diseases, Genetics, Neurosciences, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Medical and Health Sciences, Studies in Human Society, Obstetrics & Reproductive Medicine, article
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7مورد إلكتروني
المؤلفون: Zhang, Xuan
المصدر: Cellular and molecular neurobiology; vol 36, iss 3, 459-470; 0272-4340
مصطلحات الفهرس: Neostriatum, Cells, Cultured, Animals, Humans, Mice, Huntington Disease, Peptides, Green Fluorescent Proteins, RNA, Trinucleotide Repeat Expansion, Real-Time Polymerase Chain Reaction, Extracellular Vesicles, Huntingtin Protein, Exosomes, Huntington’s disease, Neurodegeneration, Trinucleotide repeat, Huntington's Disease, Biotechnology, Brain Disorders, Orphan Drug, Neurosciences, Genetics, Rare Diseases, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Huntington's disease, Biochemistry and Cell Biology, Pharmacology and Pharmaceutical Sciences, Neurology & Neurosurgery, article
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8مورد إلكتروني
المؤلفون: Aishworiya, Ramkumar
المصدر: Scientific reports; vol 13, iss 1, 7050; 2045-2322
مصطلحات الفهرس: Humans, Fragile X Syndrome, RNA, Messenger, Trinucleotide Repeat Expansion, Alleles, Adolescent, Adult, Aged, 80 and over, Middle Aged, Child, Preschool, Infant, Female, Fragile X Mental Retardation Protein, Young Adult, Genetics, Rare Diseases, Mental Health, Attention Deficit Hyperactivity Disorder (ADHD), Intellectual and Developmental Disabilities (IDD), Clinical Research, Pediatric, Brain Disorders, Mental health, Good Health and Well Being, article
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9مورد إلكترونيRepeat-associated non-AUG translation induces cytoplasmic aggregation of CAG repeat-containing RNAs.
المؤلفون: Das, Michael R
المصدر: Proceedings of the National Academy of Sciences of the United States of America; vol 120, iss 3, e2215071120; 0027-8424
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10مورد إلكتروني
المؤلفون: Zafarullah, Marwa
المصدر: Molecular Neurobiology; vol 60, iss 4