المؤلفون: Furene S. Wang, Caroline G.L. Lee, Samuel S. Chong, Yanghong Gu, Jozef Gecz, Hai-Yang Law, David L. Nelson, Timing Liu, Marie Shaw, Felicia S.H. Cheah, Stacey K.H. Tay

المصدر: The Journal of Molecular Diagnostics. 23:941-951

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Population, Biology, Pathology and Forensic Medicine, Fragile X Mental Retardation Protein, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Polymorphism (computer science), Genotype, Humans, Genetic Predisposition to Disease, Genetic Testing, education, Alleles, Genetic Association Studies, Southern blot, Genetics, Sanger sequencing, education.field_of_study, Chromosomal fragile site, Electrophoresis, Capillary, Nuclear Proteins, Reproducibility of Results, FMR1, 030104 developmental biology, Fragile X Syndrome, 030220 oncology & carcinogenesis, symbols, Molecular Medicine, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Multiplex Polymerase Chain Reaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7340d5ecabb8760c923c2f7a3b93a9d7Test
https://doi.org/10.1016/j.jmoldx.2021.04.015Test

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

المؤلفون: Maria Luiza Saraiva-Pereira, Ana Carolina Martins, Mariana Rieck, Laura Bannach Jardim, Vanessa Bielefeldt Leotti

المصدر: Journal of Molecular Neuroscience. 71:1906-1913

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genotype, medicine, Humans, Allele, Calpastatin, Genetics, Genes, Modifier, Calpain, Calcium-Binding Proteins, Haplotype, Machado-Joseph Disease, General Medicine, Middle Aged, medicine.disease, Pedigree, Phenotype, 030104 developmental biology, Mutation, Spinocerebellar ataxia, Female, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Machado–Joseph disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a757910e6a656e3294213eb140ebd8Test
https://doi.org/10.1007/s12031-021-01877-9Test

المؤلفون: Li Cao, Jiaxi Yu, Xing-Hua Luan, Yun Yuan, Lingchao Meng, Zhaoxia Wang, Pidong Li, Daojun Hong, Xiao-Rong Wu, Jianwen Deng, Zhi-rong Jia, He Lv, Wei Zhang, Meng Yu, Wei Liang, Jing Liu, Min Zhu, Sheng Yao, Xin Shi, Qiang Gang, Binbin Zhou

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1330-1342 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Candidate gene, Intranuclear Inclusion Bodies, Central nervous system, Nerve Tissue Proteins, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Myopathy, RC346-429, Pathological, Research Articles, business.industry, General Neuroscience, Middle Aged, Spinal cord, Phenotype, Pedigree, Distal Myopathies, 030104 developmental biology, medicine.anatomical_structure, Intercellular Signaling Peptides and Proteins, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Hereditary Sensory and Motor Neuropathy, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery, Research Article, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fae32469ae38228594f5500b56d665Test
https://doaj.org/article/3f786e19f13442c59c60f2139451b03aTest

المؤلفون: Dazhang Bai, Peng Yin, Fengwei Sun, Sen Yan, Xiao-Jiang Li, Yiran Zhang, Laiqiang Chen, Li Lin, Shihua Li

المصدر: Human Molecular Genetics. 30:1497-1508

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Huntingtin, Swine, Somatic cell, Mice, Transgenic, Striatum, Neuropathology, Biology, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Internal medicine, Gene knockin, mental disorders, Genetics, medicine, Animals, Molecular Biology, Genetics (clinical), Huntingtin Protein, Neurodegeneration, General Medicine, medicine.disease, Corpus Striatum, Neostriatum, Disease Models, Animal, Huntington Disease, MutL Proteins, 030104 developmental biology, Endocrinology, nervous system, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::510004251fd7bf13318b4c0f0ecad49bTest
https://doi.org/10.1093/hmg/ddab129Test

المؤلفون: Wei Zhang, Zhaoxia Wang, Yun Yuan, Xufang Xie, Jing Liu, Jianhui Fu, Jiaxi Yu, Xiaochen Han, Binbin Zhou, Yilei Zheng, Xiaobin Li, Min Zhu, Qingqing Wang, Sheng Yao, Jianwen Deng, Xueyu Guo, Pidong Li, Daojun Hong

المصدر: Journal of Medical Genetics. 59:462-469

مصطلحات موضوعية: 0301 basic medicine, Intranuclear Inclusion Bodies, Genetic Carrier Screening, RNA-binding protein, 030105 genetics & heredity, Biology, Asymptomatic, 03 medical and health sciences, chemistry.chemical_compound, Genetics, medicine, Humans, RNA, Messenger, Genetics (clinical), RNA, Neurodegenerative Diseases, 030104 developmental biology, chemistry, CpG site, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Asymptomatic carrier, DNA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbfbb850b9000179a8fce1bde7c6afeTest
https://doi.org/10.1136/jmedgenet-2020-107649Test

المؤلفون: Joel D. Richter, Xinyu Zhao

المصدر: Nat Rev Neurosci

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, RNA-binding protein, Biology, Article, Transcriptome, Fragile X Mental Retardation Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Animals, Humans, Gene, Neurons, Neuronal Plasticity, General Neuroscience, medicine.disease, Molecular biology, FMR1, nervous system diseases, Fragile X syndrome, 030104 developmental biology, Fragile X Syndrome, Synaptic plasticity, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2d91f9ac1b287ea164d3f3ff7f51d22Test
https://doi.org/10.1038/s41583-021-00432-0Test

المؤلفون: Karl Richard Gibson, Caroline L. Benn, David S. Reynolds

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, Review, Disease, Bioinformatics, DNA Mismatch Repair, PARP, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Drug Development, Huntington's disease, Drug Discovery, Animals, Humans, Medicine, Gene, Genetic association, CAG repeat, Huntingtin Protein, somatic instability, business.industry, Drug discovery, Huntingtin (HTT), mismatch repair (MMR), polyglutamine (polyQ), medicine.disease, DNA Damage Repair, Huntington Disease, 030104 developmental biology, ATM, Neurology (clinical), Age of onset, Trinucleotide Repeat Expansion, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, DNA Damage

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37605575e100ba9555d3a6ad4b497332Test
https://doi.org/10.3233/jhd-200421Test

المؤلفون: Gagan B. Panigrahi, Jean-Yves Masson, Amit Laxmikant Deshmukh, Antonio Porro, Mohiuddin Mohiuddin, Stella Lanni, Christopher E. Pearson, Alessandro A. Sartori, Marie-Christine Caron

المساهمون: University of Zurich, Jones, Lesley, Pearson, Christopher E, Wheeler, Vanessa

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA repair, 2804 Cellular and Molecular Neuroscience, Clinical Neurology, 610 Medicine & health, Review, Biology, Genomic Instability, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, FAN1, medicine, Animals, Humans, Spinocerebellar Ataxias, Copy-number variation, nuclease, Gene, repeat instability, Genetics, modifier, Endodeoxyribonucleases, Genes, Modifier, 10061 Institute of Molecular Cancer Research, medicine.disease, Multifunctional Enzymes, FMR1, karyomegalic interstitial nephritis, Exodeoxyribonucleases, Huntington Disease, 2728 Neurology (clinical), 030104 developmental biology, Spinocerebellar ataxia, 570 Life sciences, biology, Neurology (clinical), Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Huntington’s disease

وصف الملف: document13.27.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e92a8368c843dfd093416c7ac00b39Test
https://doi.org/10.3233/jhd-200448Test

المؤلفون: Marcy E. MacDonald, Darren G. Monckton, Lesley Jones, Vanessa C. Wheeler, Michael Orth, Eun Pyo Hong, Seung Kwak, Peter Holmans, Jong-Min Lee, James F. Gusella, Jeffrey D. Long

المصدر: Journal of Huntington's Disease

مصطلحات موضوعية: 0301 basic medicine, genetic association, Locus (genetics), Disease, Review, Biology, genotype-phenotype correlation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, medicine, Humans, genetics, Cognitive decline, Genetic Association Studies, Genetic association, Genetics, modifier gene, Huntingtin Protein, Genes, Modifier, medicine.disease, Human genetics, 030104 developmental biology, Huntington Disease, Human genome, Neurology (clinical), trinucleotide repeat expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4113ad8a6bbd083b7bd611f2484fbe87Test
http://europepmc.org/articles/PMC7990433Test