BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

348 related articles for article (PubMed ID: 22817815)

  • 1. Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY; Fu SC; Chang YY; Wu-Chou YH; Lai SC; Chen RS; Lu CS
    J Formos Med Assoc; 2012 Jul; 111(7):380-5. PubMed ID: 22817815
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY; Chang YY; Yeh TH; Lai SC; Liou CW; Kuo HC; Wu YR; Lyu RK; Hung JW; Chang YC; Lu CS
    BMC Neurol; 2014 Nov; 14():216. PubMed ID: 25421405
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
    Loureiro JL; Brandão E; Ruano L; Brandão AF; Lopes AM; Thieleke-Matos C; Miller-Fleming L; Cruz VT; Barbosa M; Silveira I; Stevanin G; Pinto-Basto J; Sequeiros J; Alonso I; Coutinho P
    JAMA Neurol; 2013 Apr; 70(4):481-7. PubMed ID: 23400676
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
    Battini R; Fogli A; Borghetti D; Michelucci A; Perazza S; Baldinotti F; Conidi ME; Ferreri MI; Simi P; Cioni G
    Eur J Neurol; 2011 Jan; 18(1):150-7. PubMed ID: 20550563
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
    Sauter S; Miterski B; Klimpe S; Bönsch D; Schöls L; Visbeck A; Papke T; Hopf HC; Engel W; Deufel T; Epplen JT; Neesen J
    Hum Mutat; 2002 Aug; 20(2):127-32. PubMed ID: 12124993
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
    Erichsen AK; Inderhaug E; Mattingsdal M; Eiklid K; Tallaksen CM
    Eur J Neurol; 2007 Jul; 14(7):809-14. PubMed ID: 17594340
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 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. 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]  

  • 14. 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]  

  • 15. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
    Park SY; Ki CS; Kim HJ; Kim JW; Sung DH; Kim BJ; Lee WY
    Arch Neurol; 2005 Jul; 62(7):1118-21. PubMed ID: 16009769
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
    Bürger J; Fonknechten N; Hoeltzenbein M; Neumann L; Bratanoff E; Hazan J; Reis A
    Eur J Hum Genet; 2000 Oct; 8(10):771-6. PubMed ID: 11039577
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
    Depienne C; Fedirko E; Forlani S; Cazeneuve C; Ribaï P; Feki I; Tallaksen C; Nguyen K; Stankoff B; Ruberg M; Stevanin G; Durr A; Brice A
    J Med Genet; 2007 Apr; 44(4):281-4. PubMed ID: 17098887
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.
    Abel A; Fonknechten N; Hofer A; Dürr A; Cruaud C; Voit T; Weissenbach J; Brice A; Klimpe S; Auburger G; Hazan J
    Neurogenetics; 2004 Dec; 5(4):239-43. PubMed ID: 15517445
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.