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.
159 related articles for article (PubMed ID: 11241479)
1. Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. Lam CW; Poon PM; Tong SF; Ko CH Am J Med Genet; 2001 Mar; 99(2):161-3. PubMed ID: 11241479 [No Abstract] [Full Text] [Related]
2. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. Wang YL; Zeng ZY; Song XW; Hao ZF; Shi YW; Tang B; Chen SQ; Gao MM; Di W; Long YS; Yi YH; Liao WP Neurogenetics; 2011 Feb; 12(1):93-5. PubMed ID: 20820830 [No Abstract] [Full Text] [Related]
3. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Hartikainen JM; Ju W; Wisniewski KE; Moroziewicz DN; Kaczmarski AL; McLendon L; Zhong D; Suarez CT; Brown WT; Zhong N Mol Genet Metab; 1999 Jun; 67(2):162-8. PubMed ID: 10356316 [TBL] [Abstract][Full Text] [Related]
4. Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis. Rawlings ND; Barrett AJ Biochim Biophys Acta; 1999 Jan; 1429(2):496-500. PubMed ID: 9989235 [TBL] [Abstract][Full Text] [Related]
5. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. Steinfeld R; Steinke HB; Isbrandt D; Kohlschütter A; Gärtner J Hum Mol Genet; 2004 Oct; 13(20):2483-91. PubMed ID: 15317752 [TBL] [Abstract][Full Text] [Related]
7. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. Yu F; Liu XM; Chen YH; Zhang SQ; Wang K Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578 [No Abstract] [Full Text] [Related]
8. Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis. Bodzioch M; Aslanidis C; Kacinski M; Zhong N; Wisniewski KE; Schmitz G Clin Chem; 2000 Oct; 46(10):1696-9. PubMed ID: 11017954 [No Abstract] [Full Text] [Related]
10. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Liu CG; Sleat DE; Donnelly RJ; Lobel P Genomics; 1998 Jun; 50(2):206-12. PubMed ID: 9653647 [TBL] [Abstract][Full Text] [Related]
11. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. Sleat DE; Wiseman JA; El-Banna M; Kim KH; Mao Q; Price S; Macauley SL; Sidman RL; Shen MM; Zhao Q; Passini MA; Davidson BL; Stewart GR; Lobel P J Neurosci; 2004 Oct; 24(41):9117-26. PubMed ID: 15483130 [TBL] [Abstract][Full Text] [Related]
12. Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis. Ezaki J; Takeda-Ezaki M; Oda K; Kominami E Biochem Biophys Res Commun; 2000 Feb; 268(3):904-8. PubMed ID: 10679303 [TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. Tessa A; Simonati A; Tavoni A; Bertini E; Santorelli FM Hum Mutat; 2000 Jun; 15(6):577. PubMed ID: 10862088 [TBL] [Abstract][Full Text] [Related]
14. Characterization and chromosomal mapping of a mouse ortholog of the late-infantile ceroid-lipofuscinosis gene CLN2. Katz ML; Liu PC; Grob-Nunn SE; Shibuya H; Johnson GS Mamm Genome; 1999 Nov; 10(11):1050-3. PubMed ID: 10556422 [TBL] [Abstract][Full Text] [Related]
15. Enzyme-based diagnosis of classical late infantile neuronal ceroid lipofuscinosis: comparison of tripeptidyl peptidase I and pepstatin-insensitive protease assays. Sohar I; Lin L; Lobel P Clin Chem; 2000 Jul; 46(7):1005-8. PubMed ID: 10894849 [No Abstract] [Full Text] [Related]
16. Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities. Young EP; Worthington VC; Jackson M; Winchester BG Eur J Paediatr Neurol; 2001; 5 Suppl A():193-6. PubMed ID: 11588996 [TBL] [Abstract][Full Text] [Related]
17. Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. Ju W; Zhong R; Moore S; Moroziewicz D; Currie JR; Parfrey P; Brown WT; Zhong N J Med Genet; 2002 Nov; 39(11):822-5. PubMed ID: 12414822 [No Abstract] [Full Text] [Related]
18. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Sleat DE; Donnelly RJ; Lackland H; Liu CG; Sohar I; Pullarkat RK; Lobel P Science; 1997 Sep; 277(5333):1802-5. PubMed ID: 9295267 [TBL] [Abstract][Full Text] [Related]
19. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. Teixeira C; Guimarães A; Bessa C; Ferreira MJ; Lopes L; Pinto E; Pinto R; Boustany RM; Sá Miranda MC; Ribeiro MG J Neurol; 2003 Jun; 250(6):661-7. PubMed ID: 12796825 [TBL] [Abstract][Full Text] [Related]
20. R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. Barisić N; Logan P; Pikija S; Skarpa D; Blau N Croat Med J; 2003 Aug; 44(4):489-93. PubMed ID: 12950156 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]