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.
2. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Boone PM; Yuan B; Campbell IM; Scull JC; Withers MA; Baggett BC; Beck CR; Shaw CJ; Stankiewicz P; Moretti P; Goodwin WE; Hein N; Fink JK; Seong MW; Seo SH; Park SS; Karbassi ID; Batish SD; Ordóñez-Ugalde A; Quintáns B; Sobrido MJ; Stemmler S; Lupski JR Am J Hum Genet; 2014 Aug; 95(2):143-61. PubMed ID: 25065914 [TBL] [Abstract][Full Text] [Related]
3. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. Boone PM; Liu P; Zhang F; Carvalho CM; Towne CF; Batish SD; Lupski JR Genet Med; 2011 Jun; 13(6):582-92. PubMed ID: 21659953 [TBL] [Abstract][Full Text] [Related]
4. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability. Kawarai T; Montecchiani C; Miyamoto R; Gaudiello F; Caltagirone C; Izumi Y; Kaji R; Orlacchio A J Neurol Sci; 2017 Sep; 380():92-97. PubMed ID: 28870597 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Beetz C; Nygren AO; Schickel J; Auer-Grumbach M; Bürk K; Heide G; Kassubek J; Klimpe S; Klopstock T; Kreuz F; Otto S; Schüle R; Schöls L; Sperfeld AD; Witte OW; Deufel T Neurology; 2006 Dec; 67(11):1926-30. PubMed ID: 17035675 [TBL] [Abstract][Full Text] [Related]
7. [A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family]. Zhang LP; Wang YF Zhonghua Nei Ke Za Zhi; 2022 Dec; 61(12):1343-1350. PubMed ID: 36456515 [No Abstract] [Full Text] [Related]
8. Novel mutations in the SPAST gene cause hereditary spastic paraplegia. Zhu Z; Zhang C; Zhao G; Liu Q; Zhong P; Zhang M; Tang W; Zhan F; Tian W; Wang Y; Yin K; Huang X; Jiang J; Liu X; Liu S; Zhou H; Luan X; Tang H; Wang Y; Chen S; Cao L Parkinsonism Relat Disord; 2019 Dec; 69():125-133. PubMed ID: 31751864 [TBL] [Abstract][Full Text] [Related]
9. Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family. Miura S; Shibata H; Kida H; Noda K; Toyama T; Iwasaki N; Iwaki A; Ayabe M; Aizawa H; Taniwaki T; Fukumaki Y Neurogenetics; 2011 Feb; 12(1):25-31. PubMed ID: 20857310 [TBL] [Abstract][Full Text] [Related]
10. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Kadnikova VA; Rudenskaya GE; Stepanova AA; Sermyagina IG; Ryzhkova OP Sci Rep; 2019 Oct; 9(1):14412. PubMed ID: 31594988 [TBL] [Abstract][Full Text] [Related]
11. A novel missense mutation in Wang XC; Liu RH; Wang T; Wang Y; Jiang Y; Chen DD; Wang XY; Hou TS; Kong QX Mol Med Rep; 2023 Apr; 27(4):. PubMed ID: 36825575 [TBL] [Abstract][Full Text] [Related]
12. Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia. Wei QQ; Chen Y; Zheng ZZ; Chen X; Huang R; Yang Y; Burgunder J; Shang HF Parkinsonism Relat Disord; 2014 Aug; 20(8):845-9. PubMed ID: 24824479 [TBL] [Abstract][Full Text] [Related]
13. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. Svenstrup K; Bross P; Koefoed P; Hjermind LE; Eiberg H; Born AP; Vissing J; Gyllenborg J; Nørremølle A; Hasholt L; Nielsen JE J Neurol Sci; 2009 Sep; 284(1-2):90-5. PubMed ID: 19423133 [TBL] [Abstract][Full Text] [Related]
14. A novel truncating variant of Nan H; Chu M; Liu L; Xie K; Wu L Front Neurol; 2022; 13():1005544. PubMed ID: 36452170 [TBL] [Abstract][Full Text] [Related]
15. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with Hashemi SS; Hajati R; Davarzani A; Rohani M; DanaeeFard F; Rahimi Bidgoli MM; Fatehi F; Kariminejad A; Najmabadi H; Nafissi S; Alavi A Can J Neurol Sci; 2022 Sep; 49(5):651-661. PubMed ID: 34353391 [TBL] [Abstract][Full Text] [Related]
17. A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene. Nan H; Okamoto K; Gao L; Morishima Y; Ichinose Y; Koh K; Hashiyada M; Adachi N; Takiyama Y Intern Med; 2020 Sep; 59(18):2311-2315. PubMed ID: 32522921 [TBL] [Abstract][Full Text] [Related]
18. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. Park H; Kang SH; Park S; Kim SY; Seo SH; Lee SJ; Lee JA; Cho SI; Sung JJ; Lee KW; Kim JY; Park SS; Seong MW J Neurol Sci; 2015 Oct; 357(1-2):167-72. PubMed ID: 26208798 [TBL] [Abstract][Full Text] [Related]
19. Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia. Chen X; Li X; Tan Y; Yang D; Lu L; Deng Y; Xu R Neurosci Lett; 2023 Aug; 812():137399. PubMed ID: 37473796 [TBL] [Abstract][Full Text] [Related]
20. Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review. Wang K; Zhao G J Neurol Sci; 2015 Oct; 357(1-2):282-4. PubMed ID: 26165777 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]