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Journal Abstract Search

163 related items for PubMed ID: 15830072

  • 1. [Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis].
    Vasques CO, Valério RM, Reed UC, Grossman RM, Kok F.
    Arq Neuropsiquiatr; 2005 Mar; 63(1):93-6. PubMed ID: 15830072
    [Abstract] [Full Text] [Related]

  • 2. Neuronal ceroid lipofuscinosis: detection of atypical forms.
    Nardocci N, Morbin M, Bugiani M, Lamantea E, Bugiani O.
    Neurol Sci; 2000 Mar; 21(3 Suppl):S57-61. PubMed ID: 11073229
    [Abstract] [Full Text] [Related]

  • 3. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.
    Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT.
    Folia Neuropathol; 1997 Mar; 35(2):73-9. PubMed ID: 9377079
    [Abstract] [Full Text] [Related]

  • 4. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
    Wisniewski KE, Zhong N, Philippart M.
    Neurology; 2001 Aug 28; 57(4):576-81. PubMed ID: 11548735
    [Abstract] [Full Text] [Related]

  • 5. Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.
    Elleder M, Franc J, Kraus J, Nevsímalová S, Sixtová K, Zeman J.
    Eur J Paediatr Neurol; 1997 Aug 28; 1(4):109-14. PubMed ID: 10728204
    [Abstract] [Full Text] [Related]

  • 6. Electroencephalographic features in a series of patients with neuronal ceroid lipofuscinoses.
    Binelli S, Canafoglia L, Panzica F, Pozzi A, Franceschetti S.
    Neurol Sci; 2000 Aug 28; 21(3 Suppl):S83-7. PubMed ID: 11073233
    [Abstract] [Full Text] [Related]

  • 7. Diagnosis of the neuronal ceroid lipofuscinoses: an update.
    Williams RE, Aberg L, Autti T, Goebel HH, Kohlschütter A, Lönnqvist T.
    Biochim Biophys Acta; 2006 Oct 28; 1762(10):865-72. PubMed ID: 16930952
    [Abstract] [Full Text] [Related]

  • 8. 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 Oct 28; 46(1):1-10. PubMed ID: 15074367
    [Abstract] [Full Text] [Related]

  • 9. Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.
    Kälviäinen R, Eriksson K, Losekoot M, Sorri I, Harvima I, Santavuori P, Järvelä I, Autti T, Vanninen R, Salmenperä T, van Diggelen OP.
    Eur J Neurol; 2007 Apr 28; 14(4):369-72. PubMed ID: 17388982
    [Abstract] [Full Text] [Related]

  • 10. [Ceroid-lipofuscinosis: recent notions].
    Chabrol B.
    Arch Pediatr; 1997 Jul 28; 4(7):671-5. PubMed ID: 9295908
    [Abstract] [Full Text] [Related]

  • 11. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan 28; 19(1):42-6. PubMed ID: 15032383
    [Abstract] [Full Text] [Related]

  • 12. Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases.
    Veneselli E, Biancheri R, Perrone MV, Buoni S, Fois A.
    Neurol Sci; 2000 Jan 28; 21(3 Suppl):S75-81. PubMed ID: 11073232
    [Abstract] [Full Text] [Related]

  • 13. Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5).
    Holmberg V, Lauronen L, Autti T, Santavuori P, Savukoski M, Uvebrant P, Hofman I, Peltonen L, Järvelä I.
    Neurology; 2000 Aug 22; 55(4):579-81. PubMed ID: 10953198
    [Abstract] [Full Text] [Related]

  • 14. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis.
    Oishi K, Ida H, Kurosawa K, Eto Y.
    Mol Genet Metab; 1999 Apr 22; 66(4):344-8. PubMed ID: 10191127
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Current state of clinical and morphological features in human NCL.
    Goebel HH, Wisniewski KE.
    Brain Pathol; 2004 Jan 16; 14(1):61-9. PubMed ID: 14997938
    [Abstract] [Full Text] [Related]

  • 17. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
    Patiño LC, Battu R, Ortega-Recalde O, Nallathambi J, Anandula VR, Renukaradhya U, Laissue P.
    PLoS One; 2014 Jan 16; 9(10):e109576. PubMed ID: 25333361
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms.
    Dyken P, Wisniewski K.
    Am J Med Genet; 1995 Jun 05; 57(2):150-4. PubMed ID: 7668320
    [Abstract] [Full Text] [Related]

  • 20. Late-onset childhood neuronal ceroid lipofuscinosis: Early clinical and electroencephalographic markers.
    Beltrán L, Valenzuela GR, Loos M, Vargas R, Lizama R, Spinsanti P, Caraballo R.
    Epilepsy Res; 2018 Aug 05; 144():49-52. PubMed ID: 29778029
    [Abstract] [Full Text] [Related]

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