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5. 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]
6. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. Alvarez V; Sánchez-Ferrero E; Beetz C; Díaz M; Alonso B; Corao AI; Gámez J; Esteban J; Gonzalo JF; Pascual-Pascual SI; López de Munain A; Moris G; Ribacoba R; Márquez C; Rosell J; Marín R; García-Barcina MJ; Del Castillo E; Benito C; Coto E; BMC Neurol; 2010 Oct; 10():89. PubMed ID: 20932283 [TBL] [Abstract][Full Text] [Related]
7. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia. Lu X; Cen Z; Xie F; Ouyang Z; Zhang B; Zhao G; Luo W J Neurol Sci; 2014 Dec; 347(1-2):368-71. PubMed ID: 25454648 [TBL] [Abstract][Full Text] [Related]
8. [Hereditary spastic paraplegia type 4 (SPG4) in Russian patients]. Rudenskaya GE; Kadnikova VA; Sidorova OP; Beetz C; Illarioshkin SN; Dadaly EL; Proskokova TN; Ryzhkova OP Zh Nevrol Psikhiatr Im S S Korsakova; 2019; 119(11):11-20. PubMed ID: 31851166 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals. Sulek A; Elert E; Rajkiewicz M; Zdzienicka E; Stepniak I; Krysa W; Zaremba J Neurol Sci; 2013 Feb; 34(2):239-42. PubMed ID: 22203332 [TBL] [Abstract][Full Text] [Related]
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13. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Travaglini L; Aiello C; Stregapede F; D'Amico A; Alesi V; Ciolfi A; Bruselles A; Catteruccia M; Pizzi S; Zanni G; Loddo S; Barresi S; Vasco G; Tartaglia M; Bertini E; Nicita F Neurogenetics; 2018 May; 19(2):111-121. PubMed ID: 29691679 [TBL] [Abstract][Full Text] [Related]
14. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. Elert-Dobkowska E; Stepniak I; Krysa W; Rajkiewicz M; Rakowicz M; Sobanska A; Rudzinska M; Wasielewska A; Pilch J; Kubalska J; Lipczynska-Lojkowska W; Kulczycki J; Kurdziel K; Sikorska A; Beetz C; Zaremba J; Sulek A J Neurol Sci; 2015 Dec; 359(1-2):35-9. PubMed ID: 26671083 [TBL] [Abstract][Full Text] [Related]
15. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. Balicza P; Grosz Z; Gonzalez MA; Bencsik R; Pentelenyi K; Gal A; Varga E; Klivenyi P; Koller J; Züchner S; Molnar JM J Neurol Sci; 2016 May; 364():116-21. PubMed ID: 27084228 [TBL] [Abstract][Full Text] [Related]
16. A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. Polymeris AA; Tessa A; Anagnostopoulou K; Rubegni A; Galatolo D; Dinopoulos A; Gika AD; Youroukos S; Skouteli E; Santorelli FM; Pons R J Neurol; 2016 Aug; 263(8):1604-11. PubMed ID: 27260292 [TBL] [Abstract][Full Text] [Related]
17. 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]
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19. Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China. Luo Y; Chen C; Zhan Z; Wang Y; Du J; Hu Z; Liao X; Zhao G; Wang J; Yan X; Jiang H; Pan Q; Xia K; Tang B; Shen L Neurodegener Dis; 2014; 14(4):176-83. PubMed ID: 25341883 [TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias. Giordani GM; Diniz F; Fussiger H; Gonzalez-Salazar C; Donis KC; Freua F; Ortega RPM; de Freitas JL; Barsottini OGP; Rosemberg S; Kok F; Pedroso JL; França MC; Saute JAM Sci Rep; 2021 Nov; 11(1):22248. PubMed ID: 34782662 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]