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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 21623769)

  • 1. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
    Schlipf NA; Schüle R; Klimpe S; Karle KN; Synofzik M; Schicks J; Riess O; Schöls L; Bauer P
    Clin Genet; 2011 Aug; 80(2):148-60. PubMed ID: 21623769
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X; Zhang L; Wu Y; Li G; Chen S; Xia Y; Li H
    BMC Neurol; 2018 Nov; 18(1):196. PubMed ID: 30497413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
    Schüle R; Brandt E; Karle KN; Tsaousidou M; Klebe S; Klimpe S; Auer-Grumbach M; Crosby AH; Hübner CA; Schöls L; Deufel T; Beetz C
    Neurogenetics; 2009 Apr; 10(2):97-104. PubMed ID: 18855023
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S; Depienne C; Gerber S; Challe G; Anheim M; Charles P; Fedirko E; Lejeune E; Cottineau J; Brusco A; Dollfus H; Chinnery PF; Mancini C; Ferrer X; Sole G; Destée A; Mayer JM; Fontaine B; de Seze J; Clanet M; Ollagnon E; Busson P; Cazeneuve C; Stevanin G; Kaplan J; Rozet JM; Brice A; Durr A
    Brain; 2012 Oct; 135(Pt 10):2980-93. PubMed ID: 23065789
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
    Criscuolo C; Filla A; Coppola G; Rinaldi C; Carbone R; Pinto S; Wang Q; de Leva MF; Salvatore E; Banfi S; Brunetti A; Quarantelli M; Geschwind DH; Pappatà S; De Michele G
    J Neurol; 2009 Aug; 256(8):1252-7. PubMed ID: 19363635
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic, clinical and neuroimaging profiles of sporadic and autosomal recessive hereditary spastic paraplegia cases in Chinese.
    Dong Y; Li XY; Wang XL; Xu F; Wang ZJ; Song Y; Li Q; Lin R; Wang C
    Neurosci Lett; 2021 Sep; 761():136108. PubMed ID: 34256108
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
    Schubert SF; Hoffjan S; Dekomien G
    Mol Cell Probes; 2016 Feb; 30(1):53-5. PubMed ID: 26714052
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
    Lan MY; Yeh TH; Chang YY; Kuo HC; Sun HS; Lai SC; Lu CS
    Eur J Neurol; 2015 Jan; 22(1):211-4. PubMed ID: 24641183
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
    Elleuch N; Depienne C; Benomar A; Hernandez AM; Ferrer X; Fontaine B; Grid D; Tallaksen CM; Zemmouri R; Stevanin G; Durr A; Brice A
    Neurology; 2006 Mar; 66(5):654-9. PubMed ID: 16534102
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
    Arnoldi A; Crimella C; Tenderini E; Martinuzzi A; D'Angelo MG; Musumeci O; Toscano A; Scarlato M; Fantin M; Bresolin N; Bassi MT
    Clin Genet; 2012 Feb; 81(2):150-7. PubMed ID: 21214876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
    Estiar MA; Yu E; Haj Salem I; Ross JP; Mufti K; Akçimen F; Leveille E; Spiegelman D; Ruskey JA; Asayesh F; Dagher A; Yoon G; Tarnopolsky M; Boycott KM; Dupre N; Dion PA; Suchowersky O; Trempe JF; Rouleau GA; Gan-Or Z
    Mov Disord; 2021 Jul; 36(7):1664-1675. PubMed ID: 33598982
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL; Wedding IM; Koht J; Chawla M; Øye AM; Sheng Y; Vigeland MD; Selmer KK; Tallaksen CM
    Eur J Neurol; 2016 Apr; 23(4):763-71. PubMed ID: 26756429
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with
    Theuriet J; Pegat A; Leblanc P; Vukusic S; Cazeneuve C; Millecamps S; Banneau G; Guillaud-Bataille M; Bernard E
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946825
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
    Warnecke T; Duning T; Schwan A; Lohmann H; Epplen JT; Young P
    Neurology; 2007 Jul; 69(4):368-75. PubMed ID: 17646629
    [TBL] [Abstract][Full Text] [Related]  

  • 18. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.
    Biancheri R; Ciccolella M; Rossi A; Tessa A; Cassandrini D; Minetti C; Santorelli FM
    Neuromuscul Disord; 2009 Jan; 19(1):62-5. PubMed ID: 19187859
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
    Siam A; Brancale A; Simons C
    J Mol Model; 2012 Feb; 18(2):441-53. PubMed ID: 21541746
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.