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Journal Abstract Search

311 related items for PubMed ID: 10430841

  • 1. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis.
    Verrips A, Nijeholt GJ, Barkhof F, Van Engelen BG, Wesseling P, Luyten JA, Wevers RA, Stam J, Wokke JH, van den Heuvel LP, Keyser A, Gabreëls FJ.
    Brain; 1999 Aug; 122 ( Pt 8)():1589-95. PubMed ID: 10430841
    [Abstract] [Full Text] [Related]

  • 2. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
    Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP.
    Brain; 2000 May; 123 ( Pt 5)():908-19. PubMed ID: 10775536
    [Abstract] [Full Text] [Related]

  • 3. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, Wevers RA, Wokke JH, Gabreëls FJ, Wolthers BG, van den Heuvel LP.
    Hum Genet; 1997 Aug; 100(2):284-6. PubMed ID: 9254865
    [Abstract] [Full Text] [Related]

  • 4. Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.
    Chen W, Kubota S, Teramoto T, Ishida S, Ohsawa N, Katayama T, Takeda T, Kuroda K, Yahara O, Kusuhara T, Neshige R, Seyama Y.
    Neurology; 1998 Sep; 51(3):865-7. PubMed ID: 9748042
    [Abstract] [Full Text] [Related]

  • 5. Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis.
    Bartholdi D, Zumsteg D, Verrips A, Wevers RA, Sistermans E, Hess K, Jung HH.
    J Neurol; 2004 Jan; 251(1):105-7. PubMed ID: 14999499
    [No Abstract] [Full Text] [Related]

  • 6. Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
    Verrips A, Steenbergen-Spanjers GC, Luyten JA, van den Heuvel LP, Keyser A, Gabreëls FJ, Wevers RA.
    Hum Genet; 1996 Dec; 98(6):735-7. PubMed ID: 8931710
    [Abstract] [Full Text] [Related]

  • 7. Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.
    Sperhake JP, Matschke J, Orth U, Gal A, Püschel K.
    Int J Legal Med; 2000 Dec; 113(2):110-3. PubMed ID: 10741487
    [Abstract] [Full Text] [Related]

  • 8. Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
    Lee MJ, Huang YC, Sweeney MG, Wood NW, Reilly MM, Yip PK.
    J Neurol; 2002 Sep; 249(9):1311-2. PubMed ID: 12242561
    [No Abstract] [Full Text] [Related]

  • 9. Late-onset spinal form xanthomatosis without brain lesion: a case report.
    Yanagihashi M, Kano O, Terashima T, Kawase Y, Hanashiro S, Sawada M, Ishikawa Y, Shiraga N, Ikeda K, Iwasaki Y.
    BMC Neurol; 2016 Feb 09; 16():21. PubMed ID: 26861945
    [Abstract] [Full Text] [Related]

  • 10. Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
    Dotti MT, Federico A, Garuti R, Calandra S.
    Mov Disord; 2000 Sep 09; 15(5):1017-9. PubMed ID: 11009219
    [No Abstract] [Full Text] [Related]

  • 11. A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family.
    Okuyama E, Tomita S, Takeuchi H, Ichikawa Y.
    J Lipid Res; 1996 Mar 09; 37(3):631-9. PubMed ID: 8728324
    [Abstract] [Full Text] [Related]

  • 12. A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
    Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G.
    Acta Neurol Belg; 2021 Apr 09; 121(2):561-566. PubMed ID: 31875301
    [Abstract] [Full Text] [Related]

  • 13. Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.
    Verrips A, van Engelen BG, ter Laak H, Gabreëls-Festen A, Janssen A, Zwarts M, Wevers RA, Gabreëls FJ.
    Neuromuscul Disord; 2000 Aug 09; 10(6):407-14. PubMed ID: 10899446
    [Abstract] [Full Text] [Related]

  • 14. Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.
    Abe R, Sekijima Y, Kinoshita T, Yoshinaga T, Koyama S, Kato T, Ikeda SI.
    J Spinal Cord Med; 2016 Nov 09; 39(6):726-729. PubMed ID: 25941960
    [Abstract] [Full Text] [Related]

  • 15. Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.
    Mutlu D, Tuncer A, Gocmen R, Yalcin-Cakmakli G, Saygı S, Elibol B.
    Neurology; 2019 Feb 26; 92(9):438-439. PubMed ID: 30804055
    [No Abstract] [Full Text] [Related]

  • 16. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees.
    Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB.
    J Lipid Res; 2001 Feb 26; 42(2):159-69. PubMed ID: 11181744
    [Abstract] [Full Text] [Related]

  • 17. [27-Hydroxylase deficiency (cerebrotendinous xanthomatosis)].
    Miyamoto K, Setoguchi T.
    Ryoikibetsu Shokogun Shirizu; 1998 Feb 26; (19 Pt 2):285-8. PubMed ID: 9645063
    [No Abstract] [Full Text] [Related]

  • 18. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
    Toba H, Fukuyama R, Sasaki M, Shiga K, Ishibashi S, Fushiki S.
    Clin Genet; 2002 Jan 26; 61(1):77-8. PubMed ID: 11903362
    [No Abstract] [Full Text] [Related]

  • 19. Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
    Lange MC, Zétola VF, Teive HA, Scola RH, Trentin AP, Zavala JA, Pereira ER, Raskin S, Werneck LC, Sistermans EA.
    Arq Neuropsiquiatr; 2004 Dec 26; 62(4):1085-9. PubMed ID: 15608974
    [Abstract] [Full Text] [Related]

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