299 related articles for article (PubMed ID: 11332778)
1. Biochemistry of neuronal ceroid lipofuscinoses.
Junaid MA; Pullarkat RK
Adv Genet; 2001; 45():93-106. PubMed ID: 11332778
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. The neuronal ceroid-lipofuscinoses.
Bennett MJ; Rakheja D
Dev Disabil Res Rev; 2013; 17(3):254-9. PubMed ID: 23798013
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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. 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]
10. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
Appu AP; Bagh MB; Sadhukhan T; Mondal A; Casey S; Mukherjee AB
J Inherit Metab Dis; 2019 Sep; 42(5):944-954. PubMed ID: 31025705
[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. 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]
13. Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.
Sleat DE; Tannous A; Sohar I; Wiseman JA; Zheng H; Qian M; Zhao C; Xin W; Barone R; Sims KB; Moore DF; Lobel P
J Proteome Res; 2017 Oct; 16(10):3787-3804. PubMed ID: 28792770
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons.
Dhar S; Bitting RL; Rylova SN; Jansen PJ; Lockhart E; Koeberl DD; Amalfitano A; Boustany RM
Ann Neurol; 2002 Apr; 51(4):448-66. PubMed ID: 11921051
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
Weimer JM; Kriscenski-Perry E; Elshatory Y; Pearce DA
Neuromolecular Med; 2002; 1(2):111-24. PubMed ID: 12025857
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
