515 related articles for article (PubMed ID: 10477428)
1. 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]
2. 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]
3. 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]
4. 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]
5. Biochemistry of neuronal ceroid lipofuscinoses.
Junaid MA; Pullarkat RK
Adv Genet; 2001; 45():93-106. PubMed ID: 11332778
[TBL] [Abstract][Full Text] [Related]
6. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland.
Moore SJ; Buckley DJ; MacMillan A; Marshall HD; Steele L; Ray PN; Nawaz Z; Baskin B; Frecker M; Carr SM; Ives E; Parfrey PS
Clin Genet; 2008 Sep; 74(3):213-22. PubMed ID: 18684116
[TBL] [Abstract][Full Text] [Related]
7. Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.
Suopanki J; Partanen S; Ezaki J; Baumann M; Kominami E; Tyynelä J
Mol Genet Metab; 2000; 71(1-2):190-4. PubMed ID: 11001810
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Vesa J; Chin MH; Oelgeschläger K; Isosomppi J; DellAngelica EC; Jalanko A; Peltonen L
Mol Biol Cell; 2002 Jul; 13(7):2410-20. PubMed ID: 12134079
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. [Kufs' disease].
Nagasato K
Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):258-61. PubMed ID: 12483876
[No Abstract] [Full Text] [Related]
15. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE; Williams RE; Goebel HH
Neurogenetics; 2005 Sep; 6(3):107-26. PubMed ID: 15965709
[TBL] [Abstract][Full Text] [Related]
16. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses.
Kida E; Golabek AA; Wisniewski KE
Adv Genet; 2001; 45():35-68. PubMed ID: 11332776
[TBL] [Abstract][Full Text] [Related]
17. A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins.
Wang P; Ju W; Wu D; Wang L; Yan M; Zou J; He B; Jenkins EC; Brown WT; Zhong N
J Chromatogr B Analyt Technol Biomed Life Sci; 2011 Feb; 879(5-6):304-16. PubMed ID: 21242110
[TBL] [Abstract][Full Text] [Related]
18. Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations.
Lin L; Lobel P
Hum Mutat; 2001 Aug; 18(2):165. PubMed ID: 11462245
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
