BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

325 related articles for article (PubMed ID: 20562464)

  • 1. Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations.
    de Bot ST; van den Elzen RT; Mensenkamp AR; Schelhaas HJ; Willemsen MA; Knoers NV; Kremer HP; van de Warrenburg BP; Scheffer H
    J Neurol Neurosurg Psychiatry; 2010 Oct; 81(10):1073-8. PubMed ID: 20562464
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
    Nanetti L; Baratta S; Panzeri M; Tomasello C; Lovati C; Azzollini J; Gellera C; Di Bella D; Taroni F; Mariotti C
    Neurosci Lett; 2012 Oct; 528(1):42-5. PubMed ID: 22960362
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Truncating mutations in
    Chelban V; Tucci A; Lynch DS; Polke JM; Santos L; Jonvik H; Groppa S; Wood NW; Houlden H
    J Neurol Neurosurg Psychiatry; 2017 Aug; 88(8):681-687. PubMed ID: 28572275
    [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. SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
    Mészárosová AU; Putzová M; Čermáková M; Vávrová D; Doležalová K; Smetanová I; Stejskal D; Beetz C; Seeman P
    J Hum Genet; 2016 Oct; 61(10):845-850. PubMed ID: 27334366
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.
    Aulitzky A; Friedrich K; Gläser D; Gastl R; Kubisch C; Ludolph AC; Volk AE
    J Neurol Sci; 2014 Dec; 347(1-2):352-5. PubMed ID: 25315759
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
    Parodi L; Fenu S; Barbier M; Banneau G; Duyckaerts C; Tezenas du Montcel S; Monin ML; Ait Said S; Guegan J; Tallaksen CME; Sablonniere B; Brice A; Stevanin G; Depienne C; Durr A;
    Brain; 2018 Dec; 141(12):3331-3342. PubMed ID: 30476002
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].
    Rudenskaia GE; Sermiagina IG; Illarioshkin SN; Sidorova OP; Fedotov VP; Poliakov AV
    Zh Nevrol Psikhiatr Im S S Korsakova; 2010; 110(6):12-9. PubMed ID: 20559269
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
    Kumar KR; Blair NF; Vandebona H; Liang C; Ng K; Sharpe DM; Grünewald A; Gölnitz U; Saviouk V; Rolfs A; Klein C; Sue CM
    J Neurol; 2013 Oct; 260(10):2516-22. PubMed ID: 23812641
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
    Shoukier M; Neesen J; Sauter SM; Argyriou L; Doerwald N; Pantakani DV; Mannan AU
    Eur J Hum Genet; 2009 Feb; 17(2):187-94. PubMed ID: 18701882
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.