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1
المؤلفون: Xun Zhou, Hongyan Huang, Runcheng He, Sheng Zeng, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Ranhui Duan, Jinchen Li, Beisha Tang, Yanming Xu, Qiying Sun
المصدر: European Journal of Neurology. 29:3600-3610
مصطلحات موضوعية: Neurology, Essential Tremor, Intranuclear Inclusion Bodies, Humans, Neurodegenerative Diseases, Neurology (clinical), Trinucleotide Repeat Expansion, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86da77487ed20f780a11ce48b8221850Test
https://doi.org/10.1111/ene.15552Test -
2دورية أكاديمية
المؤلفون: Project MinE ALS Sequencing Consortium
المساهمون: UMC Utrecht Holding, Neurogenetica, Brain, ZL Neuromusculaire Ziekten Medisch, Opleiding Neurologie, AIOS Psychiatrie, Translational Neuroscience, Regenerative Medicine and Stem Cells, TN groep Pasterkamp, Projectafdeling ALS
مصطلحات موضوعية: amyotrophic lateral sclerosis, DNA repeat expansion, genetic association study, trinucleotide repeat expansions, Psychiatry and Mental health, Biological Psychiatry, Cellular and Molecular Neuroscience, Neurology, Journal Article
وصف الملف: application/pdf
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3
المؤلفون: Zhiping Wang, Peng Liu, Haotian Wang, Zhidong Cen, Biao Jiang, Bo Wang, Junfeng Ji, Dehao Yang, Wei Luo, Houmin Yin, Lebo Wang, You Chen, Fan Zhang, Xinhui Chen, Fei Xie, Sheng Wu, Zhiyuan Ouyang
المصدر: European Journal of Neurology. 29:450-458
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Essential tremor, business.industry, Essential Tremor, Intranuclear Inclusion Bodies, Neurodegenerative Diseases, Magnetic resonance imaging, medicine.disease, Hyperintensity, Neurology, Tremor, Skin biopsy, medicine, Humans, Neurology (clinical), Differential diagnosis, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9831628cbd6c0329e05498e6b588bf82Test
https://doi.org/10.1111/ene.15169Test -
4
المؤلفون: Sergio Pérez‐Oliveira, Ignacio Álvarez, Irene Rosas, Manuel Menendez‐González, Marta Blázquez‐Estrada, Miquel Aguilar, Daniela Corte, Mariateresa Buongiorno, Laura Molina‐Porcel, Iban Aldecoa, María J. Martí, Pascual Sánchez‐Juan, Jon Infante, Isabel González‐Aramburu, Pablo García‐González, Maitée Rosende‐Roca, Mercè Boada, Agustín Ruiz, María Teresa Periñán, Daniel Macías‐García, Laura Muñoz‐Delgado, Pilar Gómez‐Garre, Pablo Mir, Jordi Clarimón, Alberto Lleo, Daniel Alcolea, Beatriz De la Casa‐Fages, Israel Duarte, Victoria Álvarez, Pau Pastor
المساهمون: Instituto de Salud Carlos III, European Commission, Asociación Parkinson Asturias, Obra Social Cajastur, Ministerio de Educación, Cultura y Deporte (España), Junta de Andalucía, Fundació Víctor Grifols i Lucas, Fundación 'la Caixa', Ace Alzheimer Center Barcelona, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Menéndez-González, Manuel, Infante, Jon, Mir, Pablo, Casa-Fages, Beatriz de la, Álvarez, Victoria
المصدر: Movement Disorders. 37:1841-1849
مصطلحات موضوعية: Male, Huntingtin Protein, Synucleinopathies, Parkinson's disease, Dementia with Lewy bodies, Multisystem atrophy, α-Synucleinopathies, Parkinson Disease, Multiple System Atrophy, HTT gene, Huntington Disease, Neurology, Humans, Neurology (clinical), Trinucleotide Repeat Expansion, Alleles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba42cab5c41e186e5b431ffd50fdb592Test
https://doi.org/10.1002/mds.29153Test -
5
المؤلفون: Yi‐Heng Zeng, Kang Yang, Gan‐Qin Du, Yi‐Kun Chen, Chun‐Yan Cao, Yu‐Sen Qiu, Jin He, Hai‐Dong Lv, Qian‐Qian Qu, Jian‐Nan Chen, Guo‐Rong Xu, Long Chen, Fu‐Ze Zheng, Miao Zhao, Min‐Ting Lin, Wan‐Jin Chen, Jing Hu, Zhi‐Qiang Wang, Ning Wang
المصدر: Annals of Neurology. 92:512-526
مصطلحات موضوعية: Adult, Neurology, Intranuclear Inclusion Bodies, Humans, RNA, Neurology (clinical), Trinucleotide Repeat Expansion, In Situ Hybridization, Fluorescence, Muscular Dystrophies, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd83a57931a3880691cc67a60eed3ee9Test
https://doi.org/10.1002/ana.26436Test -
6
المؤلفون: A, Durr, S, Humbert
المصدر: Revue Neurologique. 178:422-425
مصطلحات موضوعية: Huntington Disease, Trinucleotide Repeats, Neurology, Humans, Neurology (clinical), Age of Onset, Trinucleotide Repeat Expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a84d657366d64ea52c6faf6b722e6f21Test
https://doi.org/10.1016/j.neurol.2022.03.009Test -
7
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 -
8
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 -
9
المؤلفون: Yu Fan, Si Shen, Jing Yang, Dabao Yao, Mengjie Li, Chengyuan Mao, Yunchao Wang, Xiaoyan Hao, Dongrui Ma, Jiadi Li, Jingjing Shi, Mengnan Guo, Shuangjie Li, Yanpeng Yuan, Fen Liu, Zhihua Yang, Shuo Zhang, Zhengwei Hu, Liyuan Fan, Han Liu, Chan Zhang, Yanlin Wang, Qingzhi Wang, Hong Zheng, Ying He, Bo Song, Yuming Xu, Changhe Shi
المصدر: Annals of Neurology. 91:704-715
مصطلحات موضوعية: Cohort Studies, Fragile X Mental Retardation Protein, Movement Disorders, Neurology, Intranuclear Inclusion Bodies, Humans, Neurology (clinical), Trinucleotide Repeat Expansion, Muscular Dystrophies, Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666f8db0b0a5a32ff165087894165265Test
https://doi.org/10.1002/ana.26325Test -
10
المصدر: The Cerebellum. 21:681-714
مصطلحات موضوعية: Cerebellum, business.industry, Neurodegeneration, medicine.disease, C9orf72 Protein, medicine.anatomical_structure, Neurology, C9orf72, medicine, Synaptopathy, Neurology (clinical), Amyotrophic lateral sclerosis, Trinucleotide repeat expansion, business, Neuroscience, Frontotemporal dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7e2bd40e1ed3637f8cb766d943ce957eTest
https://doi.org/10.1007/s12311-021-01320-0Test
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