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4. Identification of an in-frame homozygous KIF1A variant causing a mild SPG30 phenotype in a Korean family. Lee B; Song HH; Kim YR; Kim JH; Cho ST; Lee JH; Kim UK; Park JS Gene; 2023 Jun; 870():147403. PubMed ID: 37001573 [TBL] [Abstract][Full Text] [Related]
5. Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. Krenn M; Zulehner G; Hotzy C; Rath J; Stogmann E; Wagner M; Haack TB; Strom TM; Zimprich A; Zimprich F Eur J Neurol; 2017 May; 24(5):741-747. PubMed ID: 28332297 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Ylikallio E; Kim D; Isohanni P; Auranen M; Kim E; Lönnqvist T; Tyynismaa H Eur J Hum Genet; 2015 Oct; 23(10):1427-30. PubMed ID: 25585697 [TBL] [Abstract][Full Text] [Related]
9. Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement. Hotchkiss L; Donkervoort S; Leach ME; Mohassel P; Bharucha-Goebel DX; Bradley N; Nguyen D; Hu Y; Gurgel-Giannetti J; Bönnemann CG J Child Neurol; 2016 Aug; 31(9):1114-9. PubMed ID: 27034427 [TBL] [Abstract][Full Text] [Related]
10. Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia. Hsu SL; Liao YC; Lin KP; Lin PY; Yu KW; Tsai YS; Guo YC; Lee YC Parkinsonism Relat Disord; 2022 Oct; 103():144-149. PubMed ID: 36155026 [TBL] [Abstract][Full Text] [Related]
11. KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia. Pennings M; Schouten MI; van Gaalen J; Meijer RPP; de Bot ST; Kriek M; Saris CGJ; van den Berg LH; van Es MA; Zuidgeest DMH; Elting MW; van de Kamp JM; van Spaendonck-Zwarts KY; Die-Smulders C; Brilstra EH; Verschuuren CC; de Vries BBA; Bruijn J; Sofou K; Duijkers FA; Jaeger B; Schieving JH; van de Warrenburg BP; Kamsteeg EJ Eur J Hum Genet; 2020 Jan; 28(1):40-49. PubMed ID: 31488895 [TBL] [Abstract][Full Text] [Related]
12. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Dick KJ; Al-Mjeni R; Baskir W; Koul R; Simpson MA; Patton MA; Raeburn S; Crosby AH Neurology; 2008 Jul; 71(4):248-52. PubMed ID: 18463364 [TBL] [Abstract][Full Text] [Related]
13. Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report. Spagnoli C; Rizzi S; Salerno GG; Frattini D; Fusco C Ital J Pediatr; 2019 Dec; 45(1):155. PubMed ID: 31796088 [TBL] [Abstract][Full Text] [Related]
14. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. Dor T; Cinnamon Y; Raymond L; Shaag A; Bouslam N; Bouhouche A; Gaussen M; Meyer V; Durr A; Brice A; Benomar A; Stevanin G; Schuelke M; Edvardson S J Med Genet; 2014 Feb; 51(2):137-42. PubMed ID: 24319291 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Erlich Y; Edvardson S; Hodges E; Zenvirt S; Thekkat P; Shaag A; Dor T; Hannon GJ; Elpeleg O Genome Res; 2011 May; 21(5):658-64. PubMed ID: 21487076 [TBL] [Abstract][Full Text] [Related]
20. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Vazza G; Zortea M; Boaretto F; Micaglio GF; Sartori V; Mostacciuolo ML Am J Hum Genet; 2000 Aug; 67(2):504-9. PubMed ID: 10877981 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]