232 related articles for article (PubMed ID: 11339651)
1. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
Zhong N; Moroziewicz DN; Ju W; Jurkiewicz A; Johnston L; Wisniewski KE; Brown WT
Genet Med; 2000; 2(6):312-8. PubMed ID: 11339651
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.
Muller VJ; Paton BC; Fietz MJ
Eur J Paediatr Neurol; 2001; 5 Suppl A():197-201. PubMed ID: 11588997
[TBL] [Abstract][Full Text] [Related]
5. Neuronal ceroid lipofuscinoses: research update.
Wisniewski KE; Kida E; Connell F; Zhong N
Neurol Sci; 2000; 21(3 Suppl):S49-56. PubMed ID: 11073228
[TBL] [Abstract][Full Text] [Related]
6. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
Sohar I; Sleat DE; Jadot M; Lobel P
J Neurochem; 1999 Aug; 73(2):700-11. PubMed ID: 10428067
[TBL] [Abstract][Full Text] [Related]
7. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses.
Zhong NA; Wisniewski KE; Ju W; Moroziewicz DN; Jurkiewicz A; McLendon L; Jenkins EC; Brown WT
Genet Test; 2000; 4(3):243-8. PubMed ID: 11142754
[TBL] [Abstract][Full Text] [Related]
8. Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Berry-Kravis E; Sleat DE; Sohar I; Meyer P; Donnelly R; Lobel P
Ann Neurol; 2000 Feb; 47(2):254-7. PubMed ID: 10665500
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE; Mitchison HM; Munroe PB
Hum Mutat; 1999; 14(3):199-215. PubMed ID: 10477428
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.
Sleat DE; Gin RM; Sohar I; Wisniewski K; Sklower-Brooks S; Pullarkat RK; Palmer DN; Lerner TJ; Boustany RM; Uldall P; Siakotos AN; Donnelly RJ; Lobel P
Am J Hum Genet; 1999 Jun; 64(6):1511-23. PubMed ID: 10330339
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.
Zhong N; Wisniewski KE; Hartikainen J; Ju W; Moroziewicz DN; McLendon L; Sklower Brooks SS; Brown WT
Clin Genet; 1998 Sep; 54(3):234-8. PubMed ID: 9788728
[TBL] [Abstract][Full Text] [Related]
14. The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathol; 2004 Jan; 14(1):70-6. PubMed ID: 14997939
[TBL] [Abstract][Full Text] [Related]
15. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Sima N; Li R; Huang W; Xu M; Beers J; Zou J; Titus S; Ottinger EA; Marugan JJ; Xie X; Zheng W
Orphanet J Rare Dis; 2018 Apr; 13(1):54. PubMed ID: 29631617
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
Chattopadhyay S; Pearce DA
Mol Genet Metab; 2000; 71(1-2):207-11. PubMed ID: 11001812
[TBL] [Abstract][Full Text] [Related]
18. The molecular genetic basis of the neuronal ceroid lipofuscinoses.
Gardiner RM
Neurol Sci; 2000; 21(3 Suppl):S15-9. PubMed ID: 11073223
[TBL] [Abstract][Full Text] [Related]
19. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis.
Katz ML; Johnson GS
Eur J Paediatr Neurol; 2001; 5 Suppl A():109-14. PubMed ID: 11588979
[TBL] [Abstract][Full Text] [Related]
20. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).
Hofmann SL; Atashband A; Cho SK; Das AK; Gupta P; Lu JY
Curr Mol Med; 2002 Aug; 2(5):423-37. PubMed ID: 12125808
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]