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2. [The molecular etiology of neuronal ceroid lipofuscinosis]. Järvelä I; Hellsten E; Vesa J; Palotie L Duodecim; 1996; 112(13):1139-41. PubMed ID: 10596080 [No Abstract] [Full Text] [Related]
3. Thirty years of Batten disease research: present status and future goals. Rider JA; Rider DL Mol Genet Metab; 1999 Apr; 66(4):231-3. PubMed ID: 10191106 [TBL] [Abstract][Full Text] [Related]
4. Batten disease--an overview of research and funding. Rider JA Am J Med Genet; 1995 Jun; 57(2):128-9. PubMed ID: 7668315 [No Abstract] [Full Text] [Related]
5. Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). Taschner PE; de Vos N; Post JG; Meijers-Heijboer EJ; Hofman I; Loonen MC; Pinckers AJ; Bleeker-Wagemakers EM; Gardiner RM; Breuning MH Am J Med Genet; 1995 Jun; 57(2):333-7. PubMed ID: 7668358 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16. Williams R; Santavuori P; Peltonen L; Gardiner RM; Järvelä I Genomics; 1994 Mar; 20(2):289-90. PubMed ID: 8020979 [TBL] [Abstract][Full Text] [Related]
8. DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses. Syvänen AC; Järvelä I; Paunio T; Vesa J Neuropediatrics; 1997 Feb; 28(1):63-6. PubMed ID: 9151326 [TBL] [Abstract][Full Text] [Related]
12. Distribution of apolipoprotein E genotypes in fragile X syndrome and Batten disease. Zhong N; Ju W; Brown WT; Ye L; Jenkins EC; Schupf N Am J Med Genet; 1999 May; 84(3):309-10. PubMed ID: 10331615 [No Abstract] [Full Text] [Related]
13. Linkage analysis in juvenile neuronal ceroid lipofuscinosis. Haines JL; Yan WL; Boustany RM; Jewell A; Julier C; Breakefield XO; Gusella JF Am J Med Genet; 1992 Feb; 42(4):542-5. PubMed ID: 1609835 [TBL] [Abstract][Full Text] [Related]
14. Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis. Gardiner RM Am J Med Genet; 1992 Feb; 42(4):539-41. PubMed ID: 1351702 [TBL] [Abstract][Full Text] [Related]
15. Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease). Tuck-Muller CM; Dyken PR; Li S; Chen H; Labbé E; Wertelecki W Am J Med Genet; 1995 Jun; 57(2):168-71. PubMed ID: 7668324 [TBL] [Abstract][Full Text] [Related]
16. From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene. Hellsten E; Vesa J; Jalanko A; Peltonen L Neuropediatrics; 1997 Feb; 28(1):9-11. PubMed ID: 9151310 [TBL] [Abstract][Full Text] [Related]
17. Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens. Anderson GW; Smith VV; Brooke I; Malone M; Sebire NJ Ultrastruct Pathol; 2006; 30(5):373-8. PubMed ID: 17090516 [TBL] [Abstract][Full Text] [Related]
18. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Mitchison HM; Taschner PE; Kremmidiotis G; Callen DF; Doggett NA; Lerner TJ; Janes RB; Wallace BA; Munroe PB; O'Rawe AM; Gardiner RM; Mole SE Neuropediatrics; 1997 Feb; 28(1):12-4. PubMed ID: 9151311 [TBL] [Abstract][Full Text] [Related]
19. Phenol sulfotransferases: candidate genes for Batten disease. Dooley TP; Probst P; Obermoeller RD; Siciliano MJ; Doggett NA; Callen DF; Mitchison HM; Mole SE Am J Med Genet; 1995 Jun; 57(2):327-32. PubMed ID: 7668357 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]