-
1دورية أكاديمية
المؤلفون: Yuhan Wang, Zhiyuan Zhang
المصدر: Frontiers in Neurology; 2024, p1-6, 6p
مصطلحات موضوعية: HEREDITARY nonpolyposis colorectal cancer, GERM cells, NERVOUS system tumors, GENETIC testing, GENETIC mutation, CANCER susceptibility
-
2دورية أكاديمية
المؤلفون: Di Xiao, Tsering Lhamo, Yang Meng, Yishuang Xu, Changzheng Chen
المصدر: Frontiers in Neurology; 2024, p1-10, 10p
مصطلحات موضوعية: DISEASE complications, OPTIC disc, OPTIC nerve, LEBER'S hereditary optic atrophy, NERVE fibers, OPTIC neuritis, MULTIPLE sclerosis
-
3دورية أكاديمية
المؤلفون: Rui Li, Xuan Liu, Chenming Ke, Fanli Zeng, Qingyi Zeng, Xiaowei Xu, Xiaoqin Fan, Ying Zhang, Qinghua Hou
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: hereditary spastic paraplegia, ITPR1, whole exome sequencing, protein structure prediction, Chinese family, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1365787/fullTest; https://doaj.org/toc/1664-2295Test
-
4دورية أكاديمية
المؤلفون: Giacomo Urbinati, Ilaria Cani, Marco Currò Dossi, Simone Longhi, Samuela Carigi, Christian Gagliardi, Elena Biagini, Nazzareno Galiè, Pietro Cortelli, Pietro Guaraldi
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: hereditary transthyretin amyloidosis, patisiran, p.Ile88Leu, TTR, familial amyloid polyneuropathy, transthyretin amyloid cardiomyopathy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1415851/fullTest; https://doaj.org/toc/1664-2295Test
-
5دورية أكاديمية
المؤلفون: Major, Toby Charles, Arany, Eszter Sara, Schon, Katherine, Simo, Magdolna, Karcagi, Veronika, van den Ameele, Jelle, Patrick Yu Wai Man, Chinnery, Patrick F., Olimpio, Catarina, Horvath, Rita
المصدر: Frontiers in Neurology; 2023, p1-8, 8p
مصطلحات موضوعية: NEUROPATHY, MITOCHONDRIAL DNA, GENETIC mutation, LEBER'S hereditary optic atrophy, GENETIC disorders, AGE of onset
-
6دورية أكاديميةThe mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
المؤلفون: Mahungu, Amokelani C., Steyn, Elizabeth, Floudiotis, Niki, Wilson, Lindsay A., Vandrovcova, Jana, Reilly, Mary M., Record, Christopher J., Benatar, Michael, Gang Wu, Raga, Sharika, Wilmshurst, Jo M., Naidu, Kireshnee, Hanna, Michael, Nel, Melissa, Heckmann, Jeannine M.
المصدر: Frontiers in Neurology; 2023, p1-16, 16p
مصطلحات موضوعية: NEUROMUSCULAR diseases, SOUTH Africans, GENETIC disorders, LEBER'S hereditary optic atrophy, PARAPLEGIA, GENETIC variation, FAMILIAL spastic paraplegia
مصطلحات جغرافية: SOUTH Africa
-
7دورية أكاديمية
المؤلفون: Xiaoting Zheng, Jianhai Chen, Chunyu Li
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: genetics, Parkinson's disease, Alzheimer's disease, hereditary spastic paraplegia, rare variant, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1367627/fullTest; https://doaj.org/toc/1664-2295Test
-
8دورية أكاديمية
المؤلفون: Toby Charles Major, Eszter Sara Arany, Katherine Schon, Magdolna Simo, Veronika Karcagi, Jelle van den Ameele, Patrick Yu Wai Man, Patrick F. Chinnery, Catarina Olimpio, Rita Horvath
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: Leber hereditary optic neuropathy (LHON), mitochondrial LHON (mtLHON), autosomal recessive LHON (arLHON), DNA-J heat shock protein family (Hsp40) member C30 (DNAJC30), c.152A>G (p.Tyr51Cys), recessive optic neuropathy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1292320/fullTest; https://doaj.org/toc/1664-2295Test
-
9دورية أكاديمية
المؤلفون: Armando Di Ludovico, Francesca Ciarelli, Saverio La Bella, Giovanna Scorrano, Francesco Chiarelli, Giovanni Farello
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: neurology, rehabilitation, physiotherapy, hereditary spastic paraplegia, physical therapy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1292527/fullTest; https://doaj.org/toc/1664-2295Test
-
10دورية أكاديمية
المؤلفون: Azusa Ikeda, Tatsuro Kumaki, Yu Tsuyusaki, Megumi Tsuji, Yumi Enomoto, Atsushi Fujita, Hirotomo Saitsu, Naomichi Matsumoto, Kenji Kurosawa, Tomohide Goto
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: hereditary spastic paraplegia, pediatric-onset hereditary spastic paraplegia, genetic sequencing, diagnostic yield, sporadic, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1085228/fullTest; https://doaj.org/toc/1664-2295Test