المؤلفون: Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: POLR3-related hypomyelinating leukodystrophy, POLR3A gene, HLD-7, RNA polymerase III (Pol III), Myelination, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e508b027dcff4bf3927d0ac5b85b9d81

المؤلفون: Yang, Haojun^{Aff1, Aff2}, Wu, Zhongling^{Aff1, Aff2, Aff3}, Li, Xiaolei, Huang, Yuanxin^{Aff1, Aff2, Aff3}, Li, Jing^{Aff1, Aff2}, He, Fang, Feng, Li^{Aff1, Aff2, Aff6}, Xiao, Bo^{Aff1, Aff2}, Tang, Weiting^{Aff1, Aff2, IDs1007202306767z_cor9}

المصدر: Neurological Sciences. 44(9):3363-3368

المؤلفون: Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: Biallelic missense variants, consanguineous family, POLR3A, WES, WRS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/521377631e9948298f3bc24bd8fb8065

المؤلفون: Jing Liu, Yue Niu, Jiong Qin, Zhixian Yang

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: POLR3-related leukodystrophy, POLR3A, POLR1C, Chinese population, mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1355484/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f22aaecd04294373a7a6aa18c76d23cc

المؤلفون: Lei Sun, Weihong Lin, Hongmei Meng, Wuqiong Zhang, Shuai Hou

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: POLR3A, hypomyelinating leukodystrophy-7, 4H syndrome, diagnosis, demyelinating diseases, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1269237/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d4c98f8031f849f99b806fadc86c42cc

المؤلفون: Ruan, Dan-dan, Ruan, Xing-lin, Wang, Ruo‑li^{Aff1, Aff3}, Lin, Xin-fu^{Aff1, Aff4}, Zhang, Yan-ping, Lin, Bin, Li, Shi-jie, Wu, Min, Chen, Qian, Zhang, Jian-hui, Cheng, Qiong^{Aff1, Aff5}, Zhang, Yi-wu, Lin, Fan^{Aff1, Aff7, IDs41598024584526_cor13}, Luo, Jie-wei^{Aff1, IDs41598024584526_cor14}, Zheng, Zheng^{Aff1, Aff5, IDs41598024584526_cor15}, Li, Yun-fei^{Aff1, Aff5, IDs41598024584526_cor16}

المصدر: Scientific Reports. 14(1)

المؤلفون: Valeriia A. Kovalskaia, Anastasiia L. Kungurtseva, Fatima M. Bostanova, Peter A. Vasiliev, Vyacheslav Y. Tabakov, Mariia D. Orlova, Inna S. Povolotskaya, Olga G. Novoselova, Roman A. Bikanov, Mariia A. Akhyamova, Yulia V. Tikhonovich, Anastasiia V. Popovich, Alisa V. Vitebskaya, Elena L. Dadali, Oxana P. Ryzhkova

المصدر: Genes, Vol 15, Iss 2, p 180 (2024)

مصطلحات موضوعية: Wiedemann–Rautenstrauch syndrome, neonatal progeroid syndrome, POLR3A, mRNA analysis, WES, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/15/2/180; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/a1a9cc46afc84091924fa55cd68fe8f4

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المؤلفون: Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita

المصدر: Brain Sciences, Vol 13, Iss 11, p 1567 (2023)

مصطلحات موضوعية: ataxia, heterozygous, leukodystrophy, neuropathy, POLR3A, vertical gaze palsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2076-3425/13/11/1567; https://doaj.org/toc/2076-3425

URL الوصول: https://doaj.org/article/54f9a683ac574063975c90826644ebbe

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.