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1دورية أكاديمية
المؤلفون: Bonnet, C, Pellerin, D, Roth, V, Clément, G, Wandzel, M, Lambert, L, Frismand, S, Douarinou, M, Grosset, A, Bekkour, I, Weber, F, Girardier, F, Robin, C, Cacciatore, S, Bronner, M, Pourié, C, Dreumont, N, Puisieux, S, Iruzubieta, P, Dicaire, MJ, Evoy, F, Rioux, MF, Hocquel, A, La Piana, R, Synofzik, M, Houlden, H, Danzi, MC, Zuchner, S, Brais, B, Renaud, M
المصدر: Scientific Reports , 13 (1) , Article 9737. (2023) (In press).
مصطلحات موضوعية: Humans, Canada, Friedreich Ataxia, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172818/1/s41598-023-36654-8.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172818Test/
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2دورية أكاديمية
المؤلفون: Annear, Dale J, Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E, Raymond, Lucy, Kooy, R Frank
مصطلحات موضوعية: Alleles, Computational Biology, Genetic Association Studies, Genetic Predisposition to Disease, Genome, Human, Genomic Instability, Humans, Microsatellite Instability, Molecular Sequence Annotation, Nervous System Diseases, Neurodevelopmental Disorders, Polymorphism, Genetic, Trinucleotide Repeat Expansion, Trinucleotide Repeats
وصف الملف: application/zip; application/pdf; text/xml
الإتاحة: https://doi.org/10.17863/CAM.63942Test
https://www.repository.cam.ac.uk/handle/1810/316827Test -
3
المؤلفون: In K. Cho, Charles A. Easley, Anthony W. S. Chan
المصدر: Journal of Assisted Reproduction and Genetics. 39:2413-2430
مصطلحات موضوعية: Male, Aspirin, Cytarabine, Obstetrics and Gynecology, General Medicine, Huntington Disease, Germ Cells, Trinucleotide Repeats, Reproductive Medicine, Proliferating Cell Nuclear Antigen, Genetics, Humans, Trinucleotide Repeat Expansion, Genetics (clinical), Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cfcd605ad5840d60a181d170064c51Test
https://doi.org/10.1007/s10815-022-02594-xTest -
4
المؤلفون: Ida Maria Westin, Mattias Landfors, Antonios Giannopoulos, Andreas Viberg, Pia Osterman, Berit Byström, Sofie Degerman, Irina Golovleva
المصدر: Cellular and Molecular Life Sciences. 80
مصطلحات موضوعية: Pharmacology, Cellular and Molecular Neuroscience, Coagulation factors, DNA methylation, Factor V, Fuchs dystrophy, Thrombomodulin, Transcription factor 4 (TCF4), Trinucleotide repeat disorder, Molecular Medicine, Cell Biology, Medical Genetics, Molecular Biology, Medicinsk genetik
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a698e85b4c7f5c7c93a552518c9fb30dTest
https://doi.org/10.1007/s00018-023-04714-xTest -
5
المؤلفون: Guohua Zhao, Lanxiao Cao, Yaping Yan
المصدر: Neurological Sciences. 42:4055-4062
مصطلحات موضوعية: medicine.medical_specialty, Neurology, Parkinson's disease, Essential tremor, business.industry, Essential Tremor, Intranuclear Inclusion Bodies, Dermatology, General Medicine, Disease, Multiple System Atrophy, medicine.disease, Bioinformatics, Psychiatry and Mental health, Atrophy, Frontotemporal Dementia, medicine, Humans, Neurology (clinical), Amyotrophic lateral sclerosis, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5626033bad03ce3c24337f942ac395ddTest
https://doi.org/10.1007/s10072-021-05498-3Test -
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المؤلفون: Siqi Dong, Dongqing Zhu, Wenbo Yang, Jiatong Li, Xiangjun Chen
المصدر: Neurological Sciences. 43:6993-6995
مصطلحات موضوعية: Motor Neurons, Repressor Proteins, Psychiatry and Mental health, Trinucleotide Repeats, Humans, Neurology (clinical), Dermatology, General Medicine, Trinucleotide Repeat Expansion, Ataxin-3
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f604044f11b00a2deddd014ba4178b8fTest
https://doi.org/10.1007/s10072-022-06325-zTest -
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: Ran An, Huijiao Chen, Weiyue Gu, Yanming Xu, Chengqi He
المصدر: Neurological Sciences. 43:3989-3993
مصطلحات موضوعية: Adult, China, Psychiatry and Mental health, Mutation, Humans, Neurology (clinical), Dermatology, General Medicine, Muscle, Skeletal, Trinucleotide Repeat Expansion, Muscular Dystrophies, Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::717021267f864f5f87ac732f1178a6ceTest
https://doi.org/10.1007/s10072-022-06005-yTest -
9دورية أكاديمية
المؤلفون: PAN, YUYIN, Lu, Junmei, Feng, Xinran, Lu, S, Yang, Y, Yang, G, Tan, S, Wang, L, Li, Pilong, Luo, Shouqing, Lu, Boxun
مصطلحات موضوعية: Humans, Mice, Animals, Trinucleotide Repeat Expansion, RNA, Protein Biosynthesis, Huntington Disease, Disease Models, Animal, Huntingtin Protein
وصف الملف: 1372-1383; Print-Electronic; application/pdf
العلاقة: E-ISSN:1552-4469; https://pearl.plymouth.ac.uk/handle/10026.1/21551Test
الإتاحة: https://doi.org/10.1038/s41589-023-01384-5Test
https://pearl.plymouth.ac.uk/handle/10026.1/21551Test -
10دورية 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