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231 related items for PubMed ID: 10191127

  • 1. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis.
    Oishi K, Ida H, Kurosawa K, Eto Y.
    Mol Genet Metab; 1999 Apr; 66(4):344-8. PubMed ID: 10191127
    [Abstract] [Full Text] [Related]

  • 2. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
    Topçu M, Tan H, Yalnizoğlu D, Usubütün A, Saatçi I, Aynaci M, Anlar B, Topaloğlu H, Turanli G, Köse G, Aysun S.
    Turk J Pediatr; 2004 Apr; 46(1):1-10. PubMed ID: 15074367
    [Abstract] [Full Text] [Related]

  • 3. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.
    Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K.
    Neurology; 2010 Feb 16; 74(7):565-71. PubMed ID: 20157158
    [Abstract] [Full Text] [Related]

  • 4. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
    Taschner PE, de Vos N, Catsman-Berrevoets CE, van Duinen SG, Lindhout D, Breuning MH.
    Am J Med Genet; 1995 Jun 05; 57(2):338-43. PubMed ID: 7668359
    [Abstract] [Full Text] [Related]

  • 5. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
    Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R.
    Am J Med Genet; 1995 Jun 05; 57(2):348-9. PubMed ID: 7668361
    [Abstract] [Full Text] [Related]

  • 6. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE.
    Hum Mutat; 2004 Apr 05; 23(4):300-5. PubMed ID: 15024724
    [Abstract] [Full Text] [Related]

  • 7. [Characterization of neuronal ceroid lipofuscinosis in Venezuelan children].
    Peña JA, Montiel-Nava C, Delgado W, Hernández ML, Cardozo JJ, Mora E, Soto-Faneite L.
    Rev Neurol; 2004 Apr 05; 38(1):42-8. PubMed ID: 14730490
    [Abstract] [Full Text] [Related]

  • 8. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
    Järvelä I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P.
    Ann Neurol; 1997 Nov 05; 42(5):799-802. PubMed ID: 9392580
    [Abstract] [Full Text] [Related]

  • 9. Urinary sediment dolichols in the diagnosis of neuronal ceroid-lipofuscinosis.
    Wolfe LS, Palo J, Santavuori P, Andermann F, Andermann E, Jacob JC, Kolodny E.
    Ann Neurol; 1986 Mar 05; 19(3):270-4. PubMed ID: 3963771
    [Abstract] [Full Text] [Related]

  • 10. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study.
    Cardona F, Rosati E.
    Am J Med Genet; 1995 Jun 05; 57(2):142-3. PubMed ID: 7668318
    [Abstract] [Full Text] [Related]

  • 11. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
    Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I.
    Genomics; 1994 Mar 15; 20(2):289-90. PubMed ID: 8020979
    [Abstract] [Full Text] [Related]

  • 12. Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures.
    Uvebrant P, Hagberg B.
    Neuropediatrics; 1997 Feb 15; 28(1):6-8. PubMed ID: 9151309
    [Abstract] [Full Text] [Related]

  • 13. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits.
    Crow YJ, Tolmie JL, Howatson AG, Patrick WJ, Stephenson JB.
    Neuropediatrics; 1997 Jun 15; 28(3):140-4. PubMed ID: 9266550
    [Abstract] [Full Text] [Related]

  • 14. Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.
    Taschner PE, Franken PF, van Berkel L, Breuning MH.
    Mol Genet Metab; 1999 Apr 15; 66(4):339-43. PubMed ID: 10191126
    [Abstract] [Full Text] [Related]

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  • 16. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L.
    Nat Genet; 1998 Jul 15; 19(3):286-8. PubMed ID: 9662406
    [Abstract] [Full Text] [Related]

  • 17. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: review of data and observations.
    Wisneiwski KE, Kida E, Patxot OF, Connell F.
    Am J Med Genet; 1992 Feb 15; 42(4):525-32. PubMed ID: 1319116
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  • 20. Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.
    Teixeira CA, Espinola J, Huo L, Kohlschütter J, Persaud Sawin DA, Minassian B, Bessa CJ, Guimarães A, Stephan DA, Sá Miranda MC, MacDonald ME, Ribeiro MG, Boustany RM.
    Hum Mutat; 2003 May 15; 21(5):502-8. PubMed ID: 12673792
    [Abstract] [Full Text] [Related]

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