These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

583 related items for PubMed ID: 23877479

  • 1. A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.
    Drack AV, Miller JN, Pearce DA.
    J Child Neurol; 2013 Sep; 28(9):1112-6. PubMed ID: 23877479
    [Abstract] [Full Text] [Related]

  • 2. A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
    Sher M, Farooq M, Abdullah U, Ali Z, Faryal S, Zakaria M, Ullah F, Bukhari H, Møller RS, Tommerup N, Baig SM.
    Int J Neurosci; 2019 Sep; 129(9):890-895. PubMed ID: 30892110
    [Abstract] [Full Text] [Related]

  • 3. 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; 19(1):42-6. PubMed ID: 15032383
    [Abstract] [Full Text] [Related]

  • 4. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
    [Abstract] [Full Text] [Related]

  • 5. A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.
    Miller JN, Pearce DA.
    J Child Neurol; 2013 Sep; 28(9):1106-11. PubMed ID: 23857568
    [Abstract] [Full Text] [Related]

  • 6. Gene symbol: CLN3. Disease: juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Leman AR, Pearce DA, Rothberg PG.
    Hum Genet; 2005 Feb; 116(3):236. PubMed ID: 15818814
    [No Abstract] [Full Text] [Related]

  • 7. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA.
    Neurosci Lett; 2005 Oct 21; 387(2):111-4. PubMed ID: 16087292
    [Abstract] [Full Text] [Related]

  • 8. Gene symbol: CLN3. Disease: Juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Leman AR, Pearce DA, Rothberg PG.
    Hum Genet; 2005 May 21; 116(6):544. PubMed ID: 15991331
    [No Abstract] [Full Text] [Related]

  • 9. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP, Bagh MB, Sadhukhan T, Mondal A, Casey S, Mukherjee AB.
    J Inherit Metab Dis; 2019 Sep 21; 42(5):944-954. PubMed ID: 31025705
    [Abstract] [Full Text] [Related]

  • 10. Regional brain atrophy in mouse models of neuronal ceroid lipofuscinosis: a new rostrocaudal perspective.
    Kühl TG, Dihanich S, Wong AM, Cooper JD.
    J Child Neurol; 2013 Sep 21; 28(9):1117-22. PubMed ID: 24014506
    [Abstract] [Full Text] [Related]

  • 11. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.
    Chan CH, Mitchison HM, Pearce DA.
    Hum Mol Genet; 2008 Nov 01; 17(21):3332-9. PubMed ID: 18678598
    [Abstract] [Full Text] [Related]

  • 12. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
    Mantel I, Brantley MA, Bellmann C, Robson AG, Holder GE, Taylor A, Anderson G, Moore AT.
    Klin Monbl Augenheilkd; 2004 May 01; 221(5):427-30. PubMed ID: 15162299
    [Abstract] [Full Text] [Related]

  • 13. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.
    Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T.
    Pediatr Neurol; 2009 Feb 01; 40(2):134-7. PubMed ID: 19135632
    [Abstract] [Full Text] [Related]

  • 14. Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3).
    Bosch ME, Aldrich A, Fallet R, Odvody J, Burkovetskaya M, Schuberth K, Fitzgerald JA, Foust KD, Kielian T.
    J Neurosci; 2016 Sep 14; 36(37):9669-82. PubMed ID: 27629717
    [Abstract] [Full Text] [Related]

  • 15. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.
    Mol Cell Neurosci; 2002 Apr 14; 19(4):515-27. PubMed ID: 11988019
    [Abstract] [Full Text] [Related]

  • 16. Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.
    Zhong Y, Mohan K, Liu J, Al-Attar A, Lin P, Flight RM, Sun Q, Warmoes MO, Deshpande RR, Liu H, Jung KS, Mitov MI, Lin N, Butterfield DA, Lu S, Liu J, Moseley HNB, Fan TWM, Kleinman ME, Wang QJ.
    Biochim Biophys Acta Mol Basis Dis; 2020 Oct 01; 1866(10):165883. PubMed ID: 32592935
    [Abstract] [Full Text] [Related]

  • 17. Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).
    Chen FK, Zhang X, Eintracht J, Zhang D, Arunachalam S, Thompson JA, Chelva E, Mallon D, Chen SC, McLaren T, Lamey T, De Roach J, McLenachan S.
    Doc Ophthalmol; 2019 Feb 01; 138(1):55-70. PubMed ID: 30446867
    [Abstract] [Full Text] [Related]

  • 18. Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis.
    Herrmann P, Druckrey-Fiskaaen C, Kouznetsova E, Heinitz K, Bigl M, Cotman SL, Schliebs R.
    J Neurosci Res; 2008 Jun 01; 86(8):1857-70. PubMed ID: 18265413
    [Abstract] [Full Text] [Related]

  • 19. Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis.
    Oetjen S, Kuhl D, Hermey G.
    J Neurochem; 2016 Nov 01; 139(3):456-470. PubMed ID: 27453211
    [Abstract] [Full Text] [Related]

  • 20. A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures.
    Ding SL, Tecedor L, Stein CS, Davidson BL.
    Neurobiol Dis; 2011 Feb 01; 41(2):237-48. PubMed ID: 20875858
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 30.