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625 related items for PubMed ID: 15074367

  • 1. 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; 46(1):1-10. PubMed ID: 15074367
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(4):300-5. PubMed ID: 15024724
    [Abstract] [Full Text] [Related]

  • 3. [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; 38(1):42-8. PubMed ID: 14730490
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  • 5. 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
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  • 7. Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
    Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE.
    Clin Genet; 2005 Aug; 68(2):167-73. PubMed ID: 15996215
    [Abstract] [Full Text] [Related]

  • 8. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R.
    Clin Genet; 2010 Jan; 77(1):79-85. PubMed ID: 19807737
    [Abstract] [Full Text] [Related]

  • 9. [Neuronal ceroid lipofuscinoses].
    Augestad LB, Diderichsen J.
    Tidsskr Nor Laegeforen; 2006 Aug 10; 126(15):1908-10. PubMed ID: 16915312
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  • 10. 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
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  • 11. Childhood neuronal ceroid-lipofuscinoses in Argentina.
    Taratuto AL, Saccoliti M, Sevlever G, Ruggieri V, Arroyo H, Herrero M, Massaro M, Fejerman N.
    Am J Med Genet; 1995 Jun 05; 57(2):144-9. PubMed ID: 7668319
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  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures.
    Uvebrant P, Hagberg B.
    Neuropediatrics; 1997 Feb 15; 28(1):6-8. PubMed ID: 9151309
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  • 14. [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
    Pérez-Poyato M S, Milà-Recasens M, Ferrer-Abizanda I, Cusí-Sánchez V, Vázquez-López M, Camino-León R, Coll-Rosell MJ, Gort L, Pineda-Marfà M.
    Rev Neurol; 2012 May 01; 54(9):544-50. PubMed ID: 22532218
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  • 15. 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
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  • 17. 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
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  • 18. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.
    Hum Mutat; 2009 Mar 05; 30(3):E530-40. PubMed ID: 19177532
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  • 20. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
    Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS.
    Clin Genet; 2008 Sep 05; 74(3):213-22. PubMed ID: 18684116
    [Abstract] [Full Text] [Related]

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