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Journal Abstract Search

388 related items for PubMed ID: 15024724

  • 1. 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
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  • 2. 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
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  • 3. 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
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  • 4. The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
    Ranta S, Zhang Y, Ross B, Lonka L, Takkunen E, Messer A, Sharp J, Wheeler R, Kusumi K, Mole S, Liu W, Soares MB, Bonaldo MF, Hirvasniemi A, de la Chapelle A, Gilliam TC, Lehesjoki AE.
    Nat Genet; 1999 Oct; 23(2):233-6. PubMed ID: 10508524
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  • 5. Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.
    Sahin Y, Güngör O, Gormez Z, Demirci H, Ergüner B, Güngör G, Dilber C.
    Acta Neurol Belg; 2017 Mar; 117(1):159-167. PubMed ID: 27844444
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  • 9. 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; 19(3):286-8. PubMed ID: 9662406
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  • 10. 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 Jul; 46(1):1-10. PubMed ID: 15074367
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  • 12. 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; 21(5):502-8. PubMed ID: 12673792
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  • 14. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.
    Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM.
    Neurogenetics; 2006 May; 7(2):111-7. PubMed ID: 16570191
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  • 17. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
    Zelnik N, Mahajna M, Iancu TC, Sharony R, Zeigler M.
    Pediatr Neurol; 2007 Jun; 36(6):411-3. PubMed ID: 17560505
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  • 19. [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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  • 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 01; 74(3):213-22. PubMed ID: 18684116
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