These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
396 related articles for article (PubMed ID: 31203368)
1. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Lin X; Su HZ; Dong EL; Lin XH; Zhao M; Yang C; Wang C; Wang J; Chen YJ; Yu H; Xu J; Ma LX; Xiong ZQ; Wang N; Chen WJ Brain; 2019 Aug; 142(8):2238-2252. PubMed ID: 31203368 [TBL] [Abstract][Full Text] [Related]
2. UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. Nan H; Ichinose Y; Tanaka M; Koh K; Ishiura H; Mitsui J; Mizukami H; Morimoto M; Hamada S; Ohtsuka T; Tsuji S; Takiyama Y J Hum Genet; 2019 Nov; 64(11):1055-1065. PubMed ID: 31515522 [TBL] [Abstract][Full Text] [Related]
5. Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1. Wang J; Hou Y; Qi L; Zhai S; Zheng L; Han L; Guo Y; Zhang B; Miao P; Lou Y; Xu X; Wang Y; Ren Y; Cao Z; Feng J Neurogenetics; 2020 Jul; 21(3):169-177. PubMed ID: 32222895 [TBL] [Abstract][Full Text] [Related]
6. Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia. Bian X; Cheng G; Sun X; Liu H; Zhang X; Han Y; Li B; Li N PLoS One; 2021; 16(6):e0253871. PubMed ID: 34191852 [TBL] [Abstract][Full Text] [Related]
7. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Estrada-Cuzcano A; Martin S; Chamova T; Synofzik M; Timmann D; Holemans T; Andreeva A; Reichbauer J; De Rycke R; Chang DI; van Veen S; Samuel J; Schöls L; Pöppel T; Mollerup Sørensen D; Asselbergh B; Klein C; Zuchner S; Jordanova A; Vangheluwe P; Tournev I; Schüle R Brain; 2017 Feb; 140(2):287-305. PubMed ID: 28137957 [TBL] [Abstract][Full Text] [Related]
8. Ubap1 knock-in mice reproduced the phenotype of SPG80. Shimozono K; Nan H; Hata T; Saito K; Kim YJ; Nagatomo H; Ohtsuka T; Koizumi S; Takiyama Y J Hum Genet; 2022 Dec; 67(12):679-686. PubMed ID: 35962060 [TBL] [Abstract][Full Text] [Related]
9. A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia. Wei Q; Wang PS; Dong HL; Luo WJ; Wu ZY; Li HF Mol Genet Genomic Med; 2022 May; 10(5):e1927. PubMed ID: 35347897 [TBL] [Abstract][Full Text] [Related]
10. Novel Frameshift Heterozygous Mutation in Zhang C; Zhu X; Zhu Z; Ni R; Liu T; Zheng H; Liu S; Cao L; Zhong P; Tian W Front Neurol; 2022; 13():820202. PubMed ID: 35321509 [TBL] [Abstract][Full Text] [Related]
11. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the Li P; Huang X; Chai S; Zhu D; Huang H; Ma F; Zhang S; Xie X Front Genet; 2022; 13():936292. PubMed ID: 35928447 [TBL] [Abstract][Full Text] [Related]
13. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report. Zhang X; Zhang L; Wu Y; Li G; Chen S; Xia Y; Li H BMC Neurol; 2018 Nov; 18(1):196. PubMed ID: 30497413 [TBL] [Abstract][Full Text] [Related]
14. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Goizet C; Boukhris A; Durr A; Beetz C; Truchetto J; Tesson C; Tsaousidou M; Forlani S; Guyant-Maréchal L; Fontaine B; Guimarães J; Isidor B; Chazouillères O; Wendum D; Grid D; Chevy F; Chinnery PF; Coutinho P; Azulay JP; Feki I; Mochel F; Wolf C; Mhiri C; Crosby A; Brice A; Stevanin G Brain; 2009 Jun; 132(Pt 6):1589-600. PubMed ID: 19439420 [TBL] [Abstract][Full Text] [Related]
15. Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family. Chan KY; Ching CK; Mak CM; Lam CW; Chan AY Hong Kong Med J; 2009 Aug; 15(4):304-7. PubMed ID: 19652243 [TBL] [Abstract][Full Text] [Related]
16. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. Bourinaris T; Smedley D; Cipriani V; Sheikh I; Athanasiou-Fragkouli A; Chinnery P; Morris H; Real R; Harrison V; Reid E; Wood N; ; Vandrovcova J; Houlden H; Tucci A Eur J Hum Genet; 2020 Dec; 28(12):1763-1768. PubMed ID: 32934340 [TBL] [Abstract][Full Text] [Related]
17. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia. Zhao M; Chen YJ; Wang MW; Lin XH; Dong EL; Chen WJ; Wang N; Lin X Mol Diagn Ther; 2019 Dec; 23(6):781-789. PubMed ID: 31630374 [TBL] [Abstract][Full Text] [Related]
18. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Dürr A; Camuzat A; Colin E; Tallaksen C; Hannequin D; Coutinho P; Fontaine B; Rossi A; Gil R; Rousselle C; Ruberg M; Stevanin G; Brice A Arch Neurol; 2004 Dec; 61(12):1867-72. PubMed ID: 15596607 [TBL] [Abstract][Full Text] [Related]