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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 20187884)

  • 1. Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Adams HR; Beck CA; Levy E; Jordan R; Kwon JM; Marshall FJ; Vierhile A; Augustine EF; de Blieck EA; Pearce DA; Mink JW
    Dev Med Child Neurol; 2010 Jul; 52(7):637-43. PubMed ID: 20187884
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample.
    Wibbeler E; Nickel M; Schwering C; Schulz A; Mink JW
    Eur J Paediatr Neurol; 2022 May; 38():62-65. PubMed ID: 35427884
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
    Kwon JM; Adams H; Rothberg PG; Augustine EF; Marshall FJ; Deblieck EA; Vierhile A; Beck CA; Newhouse NJ; Cialone J; Levy E; Ramirez-Montealegre D; Dure LS; Rose KR; Mink JW
    Neurology; 2011 Nov; 77(20):1801-7. PubMed ID: 22013180
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates.
    de Blieck EA; Augustine EF; Marshall FJ; Adams H; Cialone J; Dure L; Kwon JM; Newhouse N; Rose K; Rothberg PG; Vierhile A; Mink JW;
    Contemp Clin Trials; 2013 Jul; 35(2):48-54. PubMed ID: 23628560
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel in-frame mutation in
    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
    [No Abstract]   [Full Text] [Related]  

  • 6. Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease.
    Osório NS; Sampaio-Marques B; Chan CH; Oliveira P; Pearce DA; Sousa N; Rodrigues F
    Genes Brain Behav; 2009 Apr; 8(3):337-45. PubMed ID: 19243453
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 17(21):3332-9. PubMed ID: 18678598
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.
    Licchetta L; Bisulli F; Fietz M; Valentino ML; Morbin M; Mostacci B; Oliver KL; Berkovic SF; Tinuper P
    Eur J Med Genet; 2015 Oct; 58(10):540-4. PubMed ID: 26360874
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.
    Gilani N; Razmara E; Ozaslan M; Abdulzahra IK; Arzhang S; Tavasoli AR; Garshasbi M
    Acta Neurol Belg; 2021 Jun; 121(3):737-748. PubMed ID: 33783722
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.
    de Voer G; van der Bent P; Rodrigues AJ; van Ommen GJ; Peters DJ; Taschner PE
    J Inherit Metab Dis; 2005; 28(6):1065-80. PubMed ID: 16435200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 42(5):944-954. PubMed ID: 31025705
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease.
    Dulz S; Atiskova Y; Wibbeler E; Wildner J; Wagenfeld L; Schwering C; Nickel M; Bartsch U; Spitzer MS; Schulz A
    Am J Ophthalmol; 2020 Dec; 220():64-71. PubMed ID: 32707205
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 221(5):427-30. PubMed ID: 15162299
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.
    Cialone J; Augustine EF; Newhouse N; Adams H; Vierhile A; Marshall FJ; de Blieck EA; Kwon J; Rothberg PG; Mink JW
    J Inherit Metab Dis; 2011 Oct; 34(5):1075-81. PubMed ID: 21556831
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
    Staropoli JF; Haliw L; Biswas S; Garrett L; Hölter SM; Becker L; Skosyrski S; Da Silva-Buttkus P; Calzada-Wack J; Neff F; Rathkolb B; Rozman J; Schrewe A; Adler T; Puk O; Sun M; Favor J; Racz I; Bekeredjian R; Busch DH; Graw J; Klingenspor M; Klopstock T; Wolf E; Wurst W; Zimmer A; Lopez E; Harati H; Hill E; Krause DS; Guide J; Dragileva E; Gale E; Wheeler VC; Boustany RM; Brown DE; Breton S; Ruether K; Gailus-Durner V; Fuchs H; de Angelis MH; Cotman SL
    PLoS One; 2012; 7(6):e38310. PubMed ID: 22701626
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
    Järvelä I; Autti T; Lamminranta S; Aberg L; Raininko R; Santavuori P
    Ann Neurol; 1997 Nov; 42(5):799-802. PubMed ID: 9392580
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A clinical rating scale for Batten disease: reliable and relevant for clinical trials.
    Marshall FJ; de Blieck EA; Mink JW; Dure L; Adams H; Messing S; Rothberg PG; Levy E; McDonough T; DeYoung J; Wang M; Ramirez-Montealegre D; Kwon JM; Pearce DA
    Neurology; 2005 Jul; 65(2):275-9. PubMed ID: 16043799
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.