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    Results: 1 to 20 of 62

    1.

    Summarizing phenotype evolution patterns from report cases.

    Taboada M, Alvarez V, Martínez D, Pilo B, Robinson PN, Sobrido MJ.

    J Med Syst. 2012 Nov;36 Suppl 1:S25-36. doi: 10.1007/s10916-012-9887-2. Epub 2012 Oct 20.

    PMID:
    23085966
    [PubMed - indexed for MEDLINE]
    2.

    Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.

    Taboada M, Martínez D, Pilo B, Jiménez-Escrig A, Robinson PN, Sobrido MJ.

    BMC Med Inform Decis Mak. 2012 Jul 31;12:78. doi: 10.1186/1472-6947-12-78.

    PMID:
    22849591
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis.

    Pedroso JL, Pinto WB, Souza PV, Santos LT, Abud IC, Avelino MA, Barsottini OG.

    Epilepsy Behav. 2012 Jul;24(3):380-1. doi: 10.1016/j.yebeh.2012.04.121. Epub 2012 May 30.

    PMID:
    22658436
    [PubMed - indexed for MEDLINE]
    4.

    Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS.

    Diekstra FP, Saris CG, van Rheenen W, Franke L, Jansen RC, van Es MA, van Vught PW, Blauw HM, Groen EJ, Horvath S, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Robberecht W, Andersen PM, Melki J, Meininger V, Hardiman O, Landers JE, Brown RH Jr, Shatunov A, Shaw CE, Leigh PN, Al-Chalabi A, Ophoff RA, van den Berg LH, Veldink JH.

    PLoS One. 2012;7(4):e35333. doi: 10.1371/journal.pone.0035333. Epub 2012 Apr 11.

    PMID:
    22509407
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Differential diagnosis in patients with suspected bile acid synthesis defects.

    Haas D, Gan-Schreier H, Langhans CD, Rohrer T, Engelmann G, Heverin M, Russell DW, Clayton PT, Hoffmann GF, Okun JG.

    World J Gastroenterol. 2012 Mar 14;18(10):1067-76. doi: 10.3748/wjg.v18.i10.1067.

    PMID:
    22416181
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up.

    Mignarri A, Dotti MT, Del Puppo M, Gallus GN, Giorgio A, Cerase A, Monti L.

    Neuroradiology. 2012 Jun;54(6):649-51. doi: 10.1007/s00234-012-1026-8. Epub 2012 Mar 15. No abstract available.

    PMID:
    22415344
    [PubMed - indexed for MEDLINE]
    7.

    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. doi: 10.1016/j.clineuro.2012.01.032. Epub 2012 Feb 13. No abstract available.

    PMID:
    22336472
    [PubMed - indexed for MEDLINE]
    8.

    Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome.

    Ostrowska M, Banaszkiewicz K, Kiławiec A, Róg T, Lütjohann D, Szczudlik A.

    Neurol Neurochir Pol. 2011 Nov-Dec;45(6):600-3.

    PMID:
    22212991
    [PubMed - indexed for MEDLINE]
    9.

    Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup.

    Kauffman MA, Gonzalez-Morón D, Consalvo D, Kochen S.

    Am J Med Sci. 2012 Apr;343(4):332-3. doi: 10.1097/MAJ.0b013e31823cf6d8.

    PMID:
    22197981
    [PubMed - indexed for MEDLINE]
    10.

    Bilateral Achilles tendon enlargement.

    Huang L, Miao XD, Yang DS, Tao HM.

    Orthopedics. 2011 Dec 6;34(12):e960-4. doi: 10.3928/01477447-20111021-28.

    PMID:
    22146219
    [PubMed - indexed for MEDLINE]
    11.

    Miscellaneous non-inflammatory musculoskeletal conditions. Rare thesaurismosis and xanthomatosis.

    Chalès G, Coiffier G, Guggenbuhl P.

    Best Pract Res Clin Rheumatol. 2011 Oct;25(5):683-701. doi: 10.1016/j.berh.2011.10.016. Review.

    PMID:
    22142747
    [PubMed - indexed for MEDLINE]
    12.

    Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis.

    Chen Q, Liu W, Jiang B, Yu R, Li X, Li H.

    Gen Hosp Psychiatry. 2012 Sep;34(5):578.e1-4. doi: 10.1016/j.genhosppsych.2011.10.008. Epub 2011 Nov 30.

    PMID:
    22133984
    [PubMed - indexed for MEDLINE]
    13.

    Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases.

    Lorbek G, Lewinska M, Rozman D.

    FEBS J. 2012 May;279(9):1516-33. doi: 10.1111/j.1742-4658.2011.08432.x. Epub 2011 Dec 22. Review.

    PMID:
    22111624
    [PubMed - indexed for MEDLINE]
    14.

    2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.

    Tian D, Zhang ZQ.

    BMC Neurol. 2011 Oct 21;11:130. doi: 10.1186/1471-2377-11-130.

    PMID:
    22018287
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    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. doi: 10.1016/j.ejmg.2011.08.003. Epub 2011 Sep 16.

    PMID:
    21958693
    [PubMed - indexed for MEDLINE]
    16.

    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. doi: 10.1111/j.1399-0004.2011.01793.x. Epub 2011 Oct 16.

    PMID:
    21955034
    [PubMed - indexed for MEDLINE]
    17.

    A neurological rarity not to be missed: cerebrotendinous xanthomatosis.

    Rafiq M, Sharrack N, Shaw PJ, Hadjivassiliou M.

    Pract Neurol. 2011 Oct;11(5):296-300. doi: 10.1136/practneurol-2011-000003. No abstract available.

    PMID:
    21921005
    [PubMed - indexed for MEDLINE]
    18.

    Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.

    Monson DM, DeBarber AE, Bock CJ, Anadiotis G, Merkens LS, Steiner RD, Stout AU.

    Arch Ophthalmol. 2011 Aug;129(8):1087-8. doi: 10.1001/archophthalmol.2011.219. No abstract available.

    PMID:
    21825196
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    19.

    Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis.

    Androdias G, Vukusic S, Gignoux L, Boespflug-Tanguy O, Acquaviva C, Zabot MT, Couvert P, Carrie A, Confavreux C, Labauge P.

    J Neurol. 2012 Feb;259(2):364-6. doi: 10.1007/s00415-011-6167-x. Epub 2011 Jul 19. No abstract available.

    PMID:
    21769531
    [PubMed - indexed for MEDLINE]
    20.

    Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis.

    Mignarri A, Falcini M, Vella A, Giorgio A, Gallus GN, Del Puppo M, Vattimo A, Federico A, Dotti MT.

    Parkinsonism Relat Disord. 2012 Jan;18(1):99-101. doi: 10.1016/j.parkreldis.2011.06.004. Epub 2011 Jul 20. No abstract available.

    PMID:
    21764626
    [PubMed - indexed for MEDLINE]

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