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1دورية أكاديمية
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, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Fragile X Syndrome, Pediatric, 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
الوصول الحر: https://escholarship.org/uc/item/67c0975fTest
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2دورية أكاديمية
المؤلفون: Ward, Jacqueline M, Stoyas, Colleen A, Switonski, Pawel M, Ichou, Farid, Fan, Weiwei, Collins, Brett, Wall, Christopher E, Adanyeguh, Isaac, Niu, Chenchen, Sopher, Bryce L, Kinoshita, Chizuru, Morrison, Richard S, Durr, Alexandra, Muotri, Alysson R, Evans, Ronald M, Mochel, Fanny, La Spada, Albert R
المصدر: Cell Reports. 26(5)
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Rare Diseases, Neurodegenerative, Brain Disorders, Neurosciences, Stem Cell Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adipose Tissue, Animals, Ataxin-7, Blood Glucose, Energy Metabolism, Humans, Kynurenine, Metabolomics, Mice, Mitochondria, Mitochondrial Diseases, NAD, Neural Stem Cells, Organelles, Peptides, Phenotype, Purkinje Cells, Reproducibility of Results, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Tryptophan, Purkinje cell, ataxin-7, induced pluripotent stem cells, mitochondria, mouse model, nicotinamide adenine dinucleotide, oxidative metabolism, polyglutamine, spinocerebellar ataxia, trinucleotide repeat, Medical Physiology, Biological sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6cw1h0csTest
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3دورية أكاديمية
المؤلفون: Gu, Xiaofeng, Cantle, Jeffrey P, Greiner, Erin R, Lee, CY Daniel, Barth, Albert M, Gao, Fuying, Park, Chang Sin, Zhang, Zhiqiang, Sandoval-Miller, Susana, Zhang, Richard L, Diamond, Marc, Mody, Istvan, Coppola, Giovanni, Yang, X William
المصدر: Neuron. 85(4)
مصطلحات موضوعية: Brain, Neurons, Cell Nucleolus, Subcellular Fractions, Animals, Mice, Transgenic, Humans, Mice, Huntington Disease, Disease Models, Animal, Nerve Tissue Proteins, Nuclear Proteins, Organ Size, Age Factors, Gene Expression Regulation, Trinucleotide Repeat Expansion, Protein Structure, Tertiary, Locomotion, Phenotype, Female, Male, HEK293 Cells, Huntingtin Protein, Disease Models, Animal, Transgenic, Protein Structure, Tertiary, Neurosciences, Psychology, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8s0671hbTest
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4دورية أكاديمية
المؤلفون: Careaga, Milo, Rose, Destanie, Tassone, Flora, Berman, Robert F, Hagerman, Randi, Ashwood, Paul
المصدر: PloS one. 9(4)
مصطلحات موضوعية: Spleen, Lymphocytes, Monocytes, Animals, Humans, Mice, Fragile X Syndrome, Inflammation, Cytokines, Trinucleotide Repeat Expansion, Heterozygote, Phenotype, Mutation, Adult, Aged, Middle Aged, Female, Fragile X Mental Retardation Protein, Young Adult, General Science & Technology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4jm7p5ggTest
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5دورية أكاديمية
المؤلفون: Marder, Karen, Gu, Yian, Eberly, Shirley, Tanner, Caroline M, Scarmeas, Nikolaos, Oakes, David, Shoulson, Ira
المصدر: JAMA Neurology. 70(11)
مصطلحات موضوعية: Neurosciences, Brain Disorders, Nutrition, Prevention, Huntington's Disease, Neurodegenerative, Rare Diseases, Adult, Body Mass Index, Canada, Diet, Mediterranean, Disease Progression, Energy Intake, Female, Humans, Huntington Disease, Male, Medication Adherence, Middle Aged, Observation, Phenotype, Predictive Value of Tests, Proportional Hazards Models, Prospective Studies, Retrospective Studies, Severity of Illness Index, Surveys and Questionnaires, Time Factors, Trinucleotide Repeat Expansion, United States, Huntington Study Group PHAROS Investigators, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8701j57cTest
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6دورية أكاديمية
المؤلفون: Consortium, The HD iPSC
المصدر: Cell Stem Cell. 11(2)
مصطلحات موضوعية: Neurosciences, Genetics, Orphan Drug, Huntington's Disease, Stem Cell Research - Embryonic - Human, Regenerative Medicine, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Brain Disorders, Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research - Nonembryonic - Human, Stem Cell Research, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Huntington Disease, Induced Pluripotent Stem Cells, Phenotype, Trinucleotide Repeat Expansion, HD iPSC Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5sx9h16dTest
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7
المؤلفون: Wei Zhang, Jing Ma, Jiaying Shi, Shan Huang, Rongjuan Zhao, Xiaomin Pang, Juan Wang, Junhong Guo, Xueli Chang
المصدر: Journal of Neurology. 269:4469-4477
مصطلحات موضوعية: Motor Neurons, Phenotype, Neurology, Amyotrophic Lateral Sclerosis, Intranuclear Inclusion Bodies, Humans, Intercellular Signaling Peptides and Proteins, Nerve Tissue Proteins, Neurology (clinical), 5' Untranslated Regions, Trinucleotide Repeat Expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fafede734722488ec79563bfc2179120Test
https://doi.org/10.1007/s00415-022-11092-0Test -
8
المؤلفون: Lulin Huang, Kai Wang, Abolfazl Doostparast Torshizi, Qian Liu, Li Fang
المصدر: Genes and Diseases, Vol 9, Iss 2, Pp 479-493 (2022)
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Medicine (General), Huntingtin, Neuronal signal transduction, Biology, QH426-470, Biochemistry, Transcriptome, Single-cell RNA sequencing, 03 medical and health sciences, Mice, 0302 clinical medicine, R5-920, Huntington's disease, Gene expression, mental disorders, medicine, Genetics, Molecular Biology, Gene, Genetics (clinical), CAG repeat, Cell Biology, medicine.disease, Phenotype, nervous system diseases, 030104 developmental biology, Behaviors, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Small chemicals
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16021124e5fc88dd3120620c48a4ec8dTest
http://www.sciencedirect.com/science/article/pii/S2352304221000714Test -
9دورية أكاديمية
المؤلفون: Chen, B, Jing, J, Dong, G, Shi, Y, Zhang, C, Zhang, Y, Wang, A, Tai, H, Niu, S, Wang, X, Pan, H, Zhang, Z
المساهمون: CHINESE STUDIES
المصدر: Elements
مصطلحات موضوعية: Autonomic dysfunction, Biallelic GGC repeat expansions, Deep medullary veins, NOTCH2NLC, Neuronal intranuclear inclusion disease, Humans, Autonomic Nervous System Diseases, Brain, East Asian People, Intranuclear Inclusion Bodies, Neurodegenerative Diseases, Phenotype, Trinucleotide Repeat Expansion, Nerve Tissue Proteins, Intercellular Signaling Peptides and Proteins
العلاقة: Chen, B, Jing, J, Dong, G, Shi, Y, Zhang, C, Zhang, Y, Wang, A, Tai, H, Niu, S, Wang, X, Pan, H, Zhang, Z (2023-05-01). Autonomic dysfunction-dominant phenotype in a Chinese family with biallelic GGC repeat expansions in NOTCH2NLC. Neurological Sciences 44 (5) : 1769-1772. ScholarBank@NUS Repository. https://doi.org/10.1007/s10072-023-06688-xTest; https://scholarbank.nus.edu.sg/handle/10635/243222Test
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10دورية أكاديمية
المؤلفون: Gallardo-Orihuela, Andrea, Hervás-Corpión, Irati, Hierro-Bujalance, Carmen, Sanchez-Sotano, Daniel, Jiménez-Gómez, Gema, Mora-López, Francisco, Campos-Caro, Antonio, Garcia-Alloza, Monica, Valor, Luis M
مصطلحات موضوعية: Animals, Brain, Corpus Striatum, Disease Models, Animal, Gene Expression Regulation, Humans, Huntingtin Protein, Huntington Disease, Male, Mice, Inbred C57BL, Transgenic, Neostriatum, Nerve Tissue Proteins, Neurons, Nuclear Proteins, Phenotype, Transcription, Genetic, Transcriptome, Trinucleotide Repeat Expansion
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/10668/14808Test; PMC6904489; https://www.nature.com/articles/s41598-019-55177-9.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904489/pdfTest
الإتاحة: https://doi.org/10.1038/s41598-019-55177-9Test
http://hdl.handle.net/10668/14808Test
https://www.nature.com/articles/s41598-019-55177-9.pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904489/pdfTest