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4. 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]
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6. 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]
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10. 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]
11. Dissimilar neuropsychiatric presentations of two siblings with juvenile neuronal ceroid lipofuscinosis (Batten disease). Lee TS; Poon SH; Chang P J Neuropsychiatry Clin Neurosci; 2010; 22(1):123.E14-5. PubMed ID: 20160229 [No Abstract] [Full Text] [Related]
12. Neuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studies. Adams HR; Kwon J; Marshall FJ; de Blieck EA; Pearce DA; Mink JW J Child Neurol; 2007 May; 22(5):621-7. PubMed ID: 17690071 [TBL] [Abstract][Full Text] [Related]
13. 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]
15. 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; 41(2):237-48. PubMed ID: 20875858 [TBL] [Abstract][Full Text] [Related]
16. Defective lysosomal arginine transport in juvenile Batten disease. Ramirez-Montealegre D; Pearce DA Hum Mol Genet; 2005 Dec; 14(23):3759-73. PubMed ID: 16251196 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. Taschner PE; de Vos N; Breuning MH J Med Genet; 1997 Nov; 34(11):955-6. PubMed ID: 9391897 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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; 28(9):1117-22. PubMed ID: 24014506 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]