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23. 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; 40(2):134-7. PubMed ID: 19135632 [TBL] [Abstract][Full Text] [Related]
24. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Wisniewski KE; Zhong N; Kaczmarski W; Kaczmarski A; Kida E; Brown WT; Schwarz KO; Lazzarini AM; Rubin AJ; Stenroos ES; Johnson WG; Wisniewski TM Ann Neurol; 1998 Jan; 43(1):106-10. PubMed ID: 9450775 [TBL] [Abstract][Full Text] [Related]
25. Cross-species homology of the CLN3 gene. Taschner PE; de Vos N; Breuning MH Neuropediatrics; 1997 Feb; 28(1):18-20. PubMed ID: 9151313 [TBL] [Abstract][Full Text] [Related]
26. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis]. Taschner PE; Losekoot M; Breuning MH; Hofman I; van Diggelen OP Ned Tijdschr Geneeskd; 2005 Feb; 149(6):300-3. PubMed ID: 15730038 [TBL] [Abstract][Full Text] [Related]
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31. 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]
32. 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]
33. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591 [TBL] [Abstract][Full Text] [Related]
34. Molecular genetic analysis of neuronal ceroid lipofuscinosis. Mole SE; Gardiner M Int J Neurol; 1991-1992; 25-26():52-9. PubMed ID: 11980063 [TBL] [Abstract][Full Text] [Related]
35. 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; 74(7):565-71. PubMed ID: 20157158 [TBL] [Abstract][Full Text] [Related]
36. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. Zhong N Mol Genet Metab; 2000; 71(1-2):195-206. PubMed ID: 11001811 [TBL] [Abstract][Full Text] [Related]
38. Investigation of Batten disease with the yeast Saccharomyces cerevisiae. Pearce DA; Sherman F Mol Genet Metab; 1999 Apr; 66(4):314-9. PubMed ID: 10191120 [TBL] [Abstract][Full Text] [Related]
39. Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. Salonen T; Heinonen-Kopra O; Vesa J; Jalanko A Mol Cell Neurosci; 2001 Aug; 18(2):131-40. PubMed ID: 11520175 [TBL] [Abstract][Full Text] [Related]
40. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). Katz ML; Shibuya H; Liu PC; Kaur S; Gao CL; Johnson GS J Neurosci Res; 1999 Aug; 57(4):551-6. PubMed ID: 10440905 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]