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.
24. Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations. Chen J; Zhao Z; Shen H; Bing Q; Li N; Guo X; Hu J BMC Neurol; 2022 May; 22(1):180. PubMed ID: 35578252 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829 [TBL] [Abstract][Full Text] [Related]
29. Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation. Yamashita S; Kimura E; Zhang Z; Tawara N; Hara K; Yoshimura A; Takashima H; Ando Y Muscle Nerve; 2019 Dec; 60(6):739-744. PubMed ID: 31449671 [TBL] [Abstract][Full Text] [Related]
30. Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene. Cheon CK; Lim SH; Kim YM; Kim D; Lee NY; Yoon TS; Kim NS; Kim E; Lee JR Sci Rep; 2017 Oct; 7(1):12527. PubMed ID: 28970574 [TBL] [Abstract][Full Text] [Related]
31. 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]
32. Rahimi Bidgoli MM; Javanparast L; Rohani M; Najmabadi H; Zamani B; Alavi A Int J Neurosci; 2021 Oct; 131(10):962-974. PubMed ID: 32352326 [TBL] [Abstract][Full Text] [Related]
33. SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia. Xie F; Chen S; Liu P; Chen X; Luo W J Hum Genet; 2022 Mar; 67(3):165-168. PubMed ID: 34526651 [TBL] [Abstract][Full Text] [Related]
34. A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia. Yu W; Jin H; Deng J; Nan D; Huang Y BMC Med Genet; 2020 Jun; 21(1):123. PubMed ID: 32493220 [TBL] [Abstract][Full Text] [Related]
35. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Tsai PC; Huang YH; Guo YC; Wu HT; Lin KP; Tsai YS; Liao YC; Liu YT; Liu TT; Kao LS; Yet SF; Fann MJ; Soong BW; Lee YC Neurology; 2014 Sep; 83(10):903-12. PubMed ID: 25098539 [TBL] [Abstract][Full Text] [Related]