المؤلفون: Haitao Tu, Xin Yi Yeo, Zhi-Wei Zhang, Wei Zhou, Jayne Yi Tan, Li Chi, Sook-Yoong Chia, Zhihong Li, Aik Yong Sim, Brijesh Kumar Singh, Dongrui Ma, Zhidong Zhou, Isabelle Bonne, Shuo-Chien Ling, Adeline S.L. Ng, Sangyong Jung, Eng-King Tan, Li Zeng

المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-26 (2024)

مصطلحات موضوعية: NOTCH2NLC, GGC repeat expansion, Intermediate repeat, AGC interruption, Mitochondrial dysfunction, Hyperexcitability, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/53616a0e246543b1ac81004a61f53ceb

المؤلفون: Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu

المصدر: Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: NOTCH2NLC gene, GGC repeat expansion, NOTCH2NLC-polyG inclusions, Cardiomyocyte, Cardiac dysfunction, Mitochondria, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-3701

URL الوصول: https://doaj.org/article/8767305a81f74d1291f3120b40d47fd2

المؤلفون: アディ フィトラ, ユスラン

مصطلحات موضوعية: neuronal intranuclear inclusion disease, GGC repeat expansion, NOTCH2NLC, clinical presentations, neuroimaging, genotype–phenotype correlation

وصف الملف: application/pdf

URL الوصول: https://ndlsearch.ndl.go.jp/books/R100000039-I13805606

Degree: 博士（医学） -- 新潟大学

المؤلفون: Guang Ji, Yuan Zhao, Jian Zhang, Hui Dong, Hongran Wu, Xian Chen, Xiaoming Qi, Yun Tian, Lu Shen, Guofeng Yang, Xueqin Song

المصدر: BMC Neurology, Vol 22, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Oculopharyngodistal myopathy (OPDM), NOTCH2NLC, Eosinophilic intranuclear inclusions, Focal segmental glomerular sclerosis (FSGS), GGC repeat expansion, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/2f1d27b841e0433e8b3a2ba00c3d3614

المؤلفون: Yusran Ady Fitrah, Yo Higuchi, Norikazu Hara, Takayoshi Tokutake, Masato Kanazawa, Kazuhiro Sanpei, Tomone Taneda, Akihiko Nakajima, Shin Koide, Shintaro Tsuboguchi, Midori Watanabe, Junki Fukumoto, Shoichiro Ando, Tomoe Sato, Yohei Iwafuchi, Aki Sato, Hideki Hayashi, Takanobu Ishiguro, Hayato Takeda, Toshiaki Takahashi, Nobuyoshi Fukuhara, Kensaku Kasuga, Akinori Miyashita, Osamu Onodera, Takeshi Ikeuchi

المصدر: Brain Sciences; Volume 13; Issue 6; Pages: 955

مصطلحات موضوعية: neuronal intranuclear inclusion disease, GGC repeat expansion, NOTCH2NLC, clinical presentations, neuroimaging, genotype–phenotype correlation

وصف الملف: application/pdf

Relation: Neurodegenerative Diseases; https://dx.doi.org/10.3390/brainsci13060955

الاتاحة: https://doi.org/10.3390/brainsci13060955

المؤلفون: Bo Zhao, Miao Yang, Zhiwei Wang, Qiqiong Yang, Yimo Zhang, Xiaokun Qi, Shuyi Pan, Yingxin Yu

المصدر: Frontiers in Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: neuronal intranuclear inclusion disease, NOTCH2NLC, GGC repeat expansion, neurodegenerative disease, PolyG, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.1056261/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/c86b13319eb5459db3c79d7ccfdad638

المؤلفون: Ady Fitrah, Yusran, アディ フィトラ, ユスラン

مصطلحات موضوعية: neuronal intranuclear inclusion disease, GGC repeat expansion, NOTCH2NLC, clinical presentations, neuroimaging, genotype–phenotype correlation

وصف الملف: application/pdf

Relation: https://doi.org/10.3390/brainsci13060955; 甲第5232号; http://hdl.handle.net/10191/0002001403

الاتاحة: https://niigata-u.repo.nii.ac.jp/record/2001403/files/r5nmk1153.pdf
https://niigata-u.repo.nii.ac.jp/record/2001403/files/r5nmk1153_a.pdf
http://hdl.handle.net/10191/0002001403
https://niigata-u.repo.nii.ac.jp/records/2001403

المؤلفون: Yiming Zheng, Jiaxi Yu, Min Zhu, Meng Yu, Yinzhe Liu, Jing Liu, He Lv, Juan Zhao, Yawen Zhao, Yang Wang, Zhiying Xie, Qingqing Wang, Xing-Hua Luan, Yun Yuan, Li Cao, Jianwen Deng, Xueyu Guo, Pidong Li, Zhaoxia Wang, Daojun Hong, Jingli Shan, Binbin Zhou, Wei Zhang, Lingchao Meng, Chuanzhu Yan, Qiang Gang

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, RNA gain-of-function mechanism, toxic protein gain-of-function mechanism, Biology, Immunofluorescence, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, MBNL1, Myopathy, medicine.diagnostic_test, AcademicSubjects/SCI01870, Original Articles, Methylation, oculopharyngodistal myopathy, Phenotype, Molecular biology, 030104 developmental biology, chemistry, GGC repeat expansion, AcademicSubjects/MED00310, NOTCH2NLC, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, Asymptomatic carrier, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08804b7c6078c1f50d95bc9e4247133
https://doi.org/10.1093/brain/awab077

المؤلفون: Chen, Zhiyong, Xu, Zheyu, Cheng, Qianhui, Tan, Jayne Yi, Ong, Helen L., Zhao, Yi, Lim, Weng Khong, Teo, Jing Xian, Foo, Jia Nee, Lee, Hwei Yee, Tan, Jeanne M. M., Hang, Liting, Yu, Wai-Yung, Ting, Simon K. S., Tan, Eng-King, Lim, Tchoyoson C. C., Ng, Adeline S. L.

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine)

مصطلحات موضوعية: Science::Medicine, Diffusion-weighted Imaging, GGC Repeat Expansion

Relation: MOH-TA18may-0003; IRNMR17CPG02; NNI-HREF NRH16/001; Clinical Genetics; Chen, Z., Xu, Z., Cheng, Q., Tan, J. Y., Ong, H. L., Zhao, Y., Lim, W. K., Teo, J. X., Foo, J. N., Lee, H. Y., Tan, J. M. M., Hang, L., Yu, W., Ting, S. K. S., Tan, E., Lim, T. C. C. & Ng, A. S. L. (2020). Phenotypic bases of NOTCH2NLC GGC expansion positive neuronal intranuclear inclusion disease in a Southeast Asian cohort. Clinical Genetics, 98(3), 274-281. https://dx.doi.org/10.1111/cge.13802; https://hdl.handle.net/10356/152268; 2-s2.0-85088444885; 98; 274; 281

الاتاحة: https://hdl.handle.net/10356/152268
https://doi.org/10.1111/cge.13802

المؤلفون: Qianhui Cheng, Tchoyoson C.C. Lim, Adeline S.L. Ng, Simon Kang Seng Ting, Yi Zhao, Liting Hang, Yi Jayne Tan, Jeanne M.M. Tan, Helen L. Ong, Zhiyong Chen, Weng Khong Lim, Hwei Yee Lee, Jing Xian Teo, Jia Nee Foo, Zheyu Xu, Wai-Yung Yu, Eng-King Tan

المساهمون: Lee Kong Chian School of Medicine (LKCMedicine)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, China, Intranuclear Inclusion Bodies, 030105 genetics & heredity, Southeast asian, Gastroenterology, law.invention, Cohort Studies, 03 medical and health sciences, Diffusion-weighted Imaging, law, Internal medicine, Genetics, medicine, Dementia, Humans, Genetic Predisposition to Disease, Medicine [Science], Genetic Testing, Receptor, Notch2, Age of Onset, Genetics (clinical), Polymerase chain reaction, Genetic testing, Aged, medicine.diagnostic_test, business.industry, Parkinsonism, Muscle weakness, Neurodegenerative Diseases, Middle Aged, medicine.disease, Pedigree, GGC Repeat Expansion, 030104 developmental biology, Cohort, Female, medicine.symptom, business, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1420ca268cb843822a84d24049a53d48
https://hdl.handle.net/10356/152268