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 *

106 related articles for article (PubMed ID: 25415522)

  • 1. An adult male with progressive spastic paraparesis and gait instability.
    Ly H; Bertorini TE; Shah N
    J Clin Neuromuscul Dis; 2014 Dec; 16(2):98-103. PubMed ID: 25415522
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis.
    Tang Y; Liu Y; Li D; Guo D; Xing Y
    Int J Neurosci; 2020 Oct; 130(10):972-975. PubMed ID: 31914338
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.
    Min JH; Kim YS; Son MJ; Joo IS
    J Med Case Rep; 2024 Jul; 18(1):334. PubMed ID: 38987800
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.
    Bourkiza R; Joyce S; Patel H; Chan M; Meyer E; Maher ER; Reddy MA
    Ophthalmic Genet; 2010 Jun; 31(2):73-6. PubMed ID: 20450308
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
    Zhang L; Zhang L; Nian N; Yu X; Shi Y; Yan Y; Sun D; Cheng N; Wang X; Yang R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Aug; 33(4):476-80. PubMed ID: 27455001
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Cerebrotendinous xanthomatosis].
    Verrips A
    Ned Tijdschr Geneeskd; 2001 Sep; 145(35):1673-7. PubMed ID: 11561482
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.
    Kapás I; Katkó M; Harangi M; Paragh G; Balogh I; Kóczi Z; Regelsberger G; Molnár MJ; Kovacs GG
    Neuropathol Appl Neurobiol; 2014 Apr; 40(3):345-50. PubMed ID: 23659550
    [No Abstract]   [Full Text] [Related]  

  • 8. Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
    Shah K; Mathew V; Gallus GN; Dotti MT; Federico A; Danda S
    Neurol India; 2012; 60(6):643-4. PubMed ID: 23287330
    [No Abstract]   [Full Text] [Related]  

  • 9. Early diagnosis for cerebrotendinous xanthomatosis with juvenile cataract and family history.
    Öncel Acır N; Taskiran Kandeger B
    Ophthalmic Genet; 2023 Aug; 44(4):361-365. PubMed ID: 37017268
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Look carefully to the heels! A potentially treatable cause of spastic paraplegia.
    Saute JA; Giugliani R; Merkens LS; Chiang JP; DeBarber AE; de Souza CF
    J Inherit Metab Dis; 2015 Mar; 38(2):363-4. PubMed ID: 25112387
    [No Abstract]   [Full Text] [Related]  

  • 11. Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.
    Varman KM; Dunbar K; Usifo K; Stevens CA
    J Clin Rheumatol; 2016 Mar; 22(2):92-3. PubMed ID: 26906304
    [No Abstract]   [Full Text] [Related]  

  • 12. Clinical reasoning: a case of treatable spastic paraparesis.
    McKinnon JH; Bosch EP
    Neurology; 2012 Aug; 79(6):e50-3. PubMed ID: 22869688
    [No Abstract]   [Full Text] [Related]  

  • 13. Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
    Suh S; Kim HK; Park HD; Ki CS; Kim MY; Jin SM; Kim SW; Hur KY; Kim KW; Kim JH
    Eur J Med Genet; 2012 Jan; 55(1):71-4. PubMed ID: 21958693
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
    Huijgen R; Stork AD; Defesche JC; Peter J; Alonso R; Cuevas A; Kastelein JJ; Duran M; Stroes ES
    Clin Genet; 2012 Jan; 81(1):24-8. PubMed ID: 21955034
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.
    Koyama S; Kawanami T; Tanji H; Arawaka S; Wada M; Saito N; Kato T
    Clin Neurol Neurosurg; 2012 Sep; 114(7):1021-3. PubMed ID: 22336472
    [No Abstract]   [Full Text] [Related]  

  • 16. Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis.
    Alcalay R; Wu S; Patel S; Frucht S
    Mov Disord; 2009 Jul; 24(9):1397-9. PubMed ID: 19373932
    [No Abstract]   [Full Text] [Related]  

  • 17. [Cerebrotendinous xanthomatosis without tendinous xanthomas: presentation of two cases].
    Campdelacreu J; Muñoz E; Cervera A; Jaumà S; Girós M; Tolosa E
    Neurologia; 2002 Dec; 17(10):647-50. PubMed ID: 12487962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
    Lionnet C; Carra C; Ayrignac X; Levade T; Gayraud D; Castelnovo G; Besson G; Androdias G; Vukusic S; Confavreux C; Zaenker C; De Seze J; Collongues N; Blanc F; Tranchant C; Wallon D; Hannequin D; Gerdelat-Mas A; Brassat D; Clanet M; Zephir H; Outteryck O; Vermersch P; Labauge P
    Rev Neurol (Paris); 2014; 170(6-7):445-53. PubMed ID: 24746394
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.
    Gonzalez-Cuyar LF; Hunter B; Harris PL; Perry G; Smith MA; Castellani RJ
    Redox Rep; 2007; 12(3):119-24. PubMed ID: 17623518
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Achilles tendon enlargement and unsteady gait.
    Selva-O'Callghan A; Jubany L; Bardes I; Vilardell-Tarrés M
    Rheumatology (Oxford); 2007 Jul; 46(7):1212-3. PubMed ID: 17468504
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.