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1دورية أكاديمية
المؤلفون: Nethisinghe, S, Kesavan, M, Ging, H, Labrum, R, Polke, JM, Islam, S, Garcia-Moreno, H, Callaghan, MF, Cavalcanti, F, Pook, MA, Giunti, P
المصدر: International Journal of Molecular Sciences , 22 (14) , Article 7507. (2021)
مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Physical Sciences, Biochemistry & Molecular Biology, Chemistry, Multidisciplinary, Friedreich's ataxia, FRDA, ataxia, GAA repeat interruption, triplet repeat primed PCR, TP PCR, frataxin, FXN, TRIPLET-REPEAT, TRINUCLEOTIDE REPEAT, DIABETES-MELLITUS, SPINOCEREBELLAR, EXPANSION, GENE
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10132292Test/
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المؤلفون: Zhou Gong, Hao-Zheng Li, Ying-Xue Ma, Chun Tang, Shuai Yang, Ping Wang
المصدر: Journal of the American Chemical Society. 144:4716-4720
مصطلحات موضوعية: Organelles, Coacervate, Chemistry, Stacking, RNA, Neurodegenerative Diseases, General Chemistry, Biochemistry, Catalysis, Nucleobase, Colloid and Surface Chemistry, Phase (matter), Organelle, Biophysics, Cluster Analysis, Humans, Molecule, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Base Pairing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42a09d0e5065d55f5f7e6f45ed9a6a75Test
https://doi.org/10.1021/jacs.1c12085Test -
3دورية أكاديمية
المصدر: International Journal of Molecular Sciences, Vol 20, Iss 15, p 3689 (2019)
مصطلحات موضوعية: cell therapy, gene editing, gene therapy, muscular dystrophy, myotonic dystrophy, neuromuscular disease, repeat expansion, trinucleotide repeat, Biology (General), QH301-705.5, Chemistry, QD1-999
العلاقة: https://www.mdpi.com/1422-0067/20/15/3689Test; https://doaj.org/toc/1422-0067Test; https://doaj.org/article/17681f827a424b9a9ec71e7aef35e255Test
الإتاحة: https://doi.org/10.3390/ijms20153689Test
https://doaj.org/article/17681f827a424b9a9ec71e7aef35e255Test -
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المؤلفون: Kshitiz Singh, Denis Furling, Sumitava Dastidar, Marinee Chuah, Thierry VandenDriessche, Debanjana Majumdar, Jaitip Tipanee, Arnaud F. Klein
المساهمون: Vrije Universiteit Brussel (VUB), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Basic (bio-) Medical Sciences, Division of Gene Therapy & Regenerative Medicine, Faculty of Medicine and Pharmacy, Centre de recherche en Myologie – U974 SU-INSERM, Furling, Denis
المصدر: Molecular Therapy
Molecular Therapy, Cell Press, 2021, 29 (11), ⟨10.1016/j.ymthe.2021.08.004⟩
Molecular Therapy, 2021, 29 (11), ⟨10.1016/j.ymthe.2021.08.004⟩مصطلحات موضوعية: Candidate gene, TNNT2, Research & Experimental Medicine, Transcriptome, chemistry.chemical_compound, 0302 clinical medicine, FUNCTIONAL-CHARACTERIZATION, cardiomyogenic differentiation, Drug Discovery, Myotonic Dystrophy, MBNL1, ribonuclear foci, Myocytes, Cardiac, Gene Editing, Genetics & Heredity, 0303 health sciences, CHLORIDE CHANNEL, RNA-Binding Proteins, MUSCLE, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Cell biology, DIFFERENTIATION, Medicine, Research & Experimental, RNA splicing, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Molecular Medicine, MESSENGER-RNA, Life Sciences & Biomedicine, EXPRESSION, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, PROTEINS, CRISPR ribonucleoprotein, Induced Pluripotent Stem Cells, Biology, spliceopathy, Myotonic dystrophy, Myotonin-Protein Kinase, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, CACNA1H, Humans, Molecular Biology, 030304 developmental biology, Pharmacology, Science & Technology, Biochemistry, Genetics and Molecular Biology(all), Alternative splicing, alternate splicing, medicine.disease, GENE, Alternative Splicing, Biotechnology & Applied Microbiology, chemistry, biology.protein, SOMATIC-CELLS, Calmodulin-Binding Proteins, CRISPR-Cas Systems, EMBRYONIC STEM-CELLS, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f587adb6edc9ad1dd712e72d4e19cdfeTest
https://doi.org/10.1016/j.ymthe.2021.08.004Test -
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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 -
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المؤلفون: Noria Okada, Masamitsu Shimazawa, Tomohiro Yako, Hideaki Hara, Shinsuke Nakamura
المصدر: Journal of Pharmacological Sciences, Vol 147, Iss 4, Pp 367-375 (2021)
مصطلحات موضوعية: Mitochondrial ROS, Programmed cell death, Huntingtin, Mutant huntingtin, Mice, Transgenic, RM1-950, Mitochondrial Dynamics, Antioxidants, DNM1L, Edaravone, Animals, Viability assay, Striatal neurons, Pharmacology, chemistry.chemical_classification, Membrane Potential, Mitochondrial, Reactive oxygen species, Huntingtin Protein, Cell Death, Chemistry, Electron Transport Complex II, Nitro Compounds, Cell biology, Mitochondria, Mitochondrial complex II, Huntington Disease, Mutation, Molecular Medicine, Mitochondrial fission, Therapeutics. Pharmacology, Propionates, Trinucleotide Repeat Expansion, Intracellular, Dynamin-related protein 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e609ed76fdf490580295f4202c80c6aeTest
http://www.sciencedirect.com/science/article/pii/S1347861321000876Test -
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المؤلفون: Madlen Hotze, Miriam Gehrmann, Manuela Hessmann, Longbin Liu, Christoph Scheich, Kathrin Petersen, Nicole Hoeschen, Peter Johnson, Sabine Schaertl, Stefanie Jahn, Matthew R. Mills, Ignacio Munoz-Sanjuan, Alex S. Kiselyov, John Wityak, Anass Chiki, Vinod Khetarpal, Karsten Kottig, Gerhard Schmiedel, Galina Bursow, Stefanie Ladewig, Christopher J. Brown, Karola Berg-Rosseburg, Michael Prime, Sven Letschert, Andreas Ebneth, Jonathan Bard, Celia Dominguez, Frank Herrmann, Hilal A. Lashuel
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-19 (2021)
Scientific Reportsمصطلحات موضوعية: exon-1, Huntingtin, Mutant, law.invention, Mice, Radioligand Assay, amyloid fibrils, Exon, law, alzheimers-disease, Huntingtin Protein, dysfunction, Multidisciplinary, Chemistry, Immunohistochemistry, Recombinant Proteins, Cell biology, small molecules, Huntington Disease, Recombinant DNA, Medicine, Preclinical imaging, congenital, hereditary, and neonatal diseases and abnormalities, brain, Science, Mice, Transgenic, Protein Aggregation, Pathological, Article, Protein Aggregates, Alzheimer Disease, mental disorders, Animals, Humans, Radioactive Tracers, beta-sheet structure, Pharmacology, Nitrogen Radioisotopes, toxicity, In vitro, nervous system diseases, Disease Models, Animal, polyglutamine aggregation, Positron-Emission Tomography, Diseases of the nervous system, Autoradiography, identification, Radiopharmaceuticals, Trinucleotide repeat expansion, Biomarkers, Ex vivo
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a157f6eee06d07d3c18e1c6daf1e927bTest
https://doaj.org/article/9ab72a1e5e324d34b23c0110b93bbd78Test -
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المؤلفون: Masayuki Nakamori, Hideki Mochizuki
المصدر: Movement Disorders. 36:298-305
مصطلحات موضوعية: 0301 basic medicine, Movement disorders, Disease, Biology, Bioinformatics, Genome, Genetic analysis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Humans, Gene, Repetitive Sequences, Nucleic Acid, Small molecule, Huntington Disease, 030104 developmental biology, Neurology, chemistry, Neurology (clinical), medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5700db593ccaa7716b2e33979e7bc1eTest
https://doi.org/10.1002/mds.28397Test -
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المؤلفون: Kye Won Wang, Simon Vezina-Dawod, Matthew D. Disney, Raphael I. Benhamou, Ilyas Yildirim, Shruti Choudhary, Samantha M. Meyer
المصدر: Chembiochem
مصطلحات موضوعية: Macromolecular Substances, Chemical biology, Molecular Dynamics Simulation, Ligands, 010402 general chemistry, 01 natural sciences, Biochemistry, Article, Small Molecule Libraries, chemistry.chemical_compound, Humans, MBNL1, Molecular Biology, Molecular Structure, 010405 organic chemistry, Chemistry, Ligand, Organic Chemistry, RNA, Small molecule, 0104 chemical sciences, Cyclization, Nucleic acid, Molecular Medicine, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8c065c67c4063448c0ca2a253e94a9aTest
https://doi.org/10.1002/cbic.202000445Test -
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المؤلفون: Jenny Chong, Jun Xu, Dong Wang
المصدر: Nucleic Acids Research
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Saccharomyces cerevisiae Proteins, Transcription Elongation, Genetic, AcademicSubjects/SCI00010, DNA polymerase II, RNA polymerase II, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Trinucleotide Repeats, Transcription (biology), Genetics, Transcription factor, 030304 developmental biology, Adenosine Triphosphatases, 0303 health sciences, biology, Nucleic Acid Enzymes, Cell biology, chemistry, Coding strand, biology.protein, RNA Polymerase II, R-Loop Structures, Transcriptional Elongation Factors, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, DNA, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6ff61ebd382026458ff3ab92a77b4e6Test
https://doi.org/10.1093/nar/gkab573Test