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Journal Abstract Search

250 related items for PubMed ID: 19807737

  • 1. 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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  • 8. 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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  • 9. 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 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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  • 13. [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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  • 18. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.
    Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT.
    Hum Mutat; 2009 Jul 01; 30(7):1104-16. PubMed ID: 19431184
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